NID diseaseId diseaseName ETCM SYM TCMSP disaease_definition MeSH_id OMIM_id Orphanet_id ICD10CM_id UMLS_id MedDRA_id 1 C3669121 11-Beta-hydroxylase deficiency 2 C4755260 12p12.1 microdeletion syndrome 3 C4305140 12q14 microdeletion syndrome SMDE03498 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. 94063 Q93.5 4 C4749855 14q11.2 microduplication syndrome 5 C4305240 14q12 microdeletion syndrome SMDE04718 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. 261144 Q93.5 6 C3697269 15q24 Microdeletion 7 C4304594 16q24.3 microdeletion syndrome SMDE00767 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. 261250 Q93.5 8 C3277849 17,20-Lyase Deficiency, Isolated 9 C0268296 17-Hydroxysteroid Dehydrogenase Deficiency 10 C3661485 17p11.2 Monosomy 11 C4304578 1p21.3 microdeletion syndrome SMDE02749 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term). 293948 Q93.5 12 C4707828 1p31p32 microdeletion syndrome 13 C4304540 1q44 microdeletion syndrome 14 C1857252 2,4-Dienoyl-CoA Reductase Deficiency SMDE00803 616034 C1857252 15 C3665382 2,8-Dihydroxyadenine Urolithiasis 16 C4304539 20p12.3 microdeletion syndrome SMDE04659 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism. 261295 Q93.5 17 C2936346 22q11 Deletion Syndrome 18 C3266101 22q11 partial monosomy syndrome 19 C1853490 22q13.3 Deletion Syndrome 20 C1859817 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA SMDE03393 204750 C1859817 21 C3266731 2-methyl-3-hydroxybutyric aciduria 22 C1864912 2-Methylbutyryl-CoA Dehydrogenase Deficiency SMDE01772 610006 C1864912 23 C1150929 2-oxo-hept-3-ene-1,7-dioate hydratase activity 24 C4304537 2p21 microdeletion syndrome SMDE04021 The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia. 606407 163693 Q93.5 25 C4749458 2p21 microdeletion syndrome without cystinuria 26 C4304532 2q23.1 microdeletion syndrome SMDE01840 The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, shortstature and seizures. 156200 228402 Q93.5 27 C4706258 2q33.1 microdeletion syndrome 28 C2610861 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity 29 C0342471 3 beta-Hydroxysteroid dehydrogenase deficiency 30 C0342727 3-@METHYLGLUTACONIC ACIDURIA, TYPE I 31 C1857776 3-@METHYLGLUTACONIC ACIDURIA, TYPE V 32 C0796137 3C syndrome SMDE03435 Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms). C535313 220210|300963 7 Q87.8 C0796137 33 C2751532 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 34 C1291230 3-Hydroxyacyl-CoA Dehydrogenase Deficiency SMDE01164 231530 C1291230 35 C0268600 3-methylcrotonyl CoA carboxylase 1 deficiency 36 C1859499 3-methylcrotonyl CoA carboxylase 2 deficiency 37 C0342728 3-Methylglutaconic aciduria type 1 SMDE04315 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. 250950 67046 E71.1 C0342728|C0342727 38 C0574083 3-Methylglutaconic aciduria type 2 39 C0574084 3-Methylglutaconic aciduria type 3 SMDE00695 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. C535311 258501 67047 E71.1 C0574084 40 C4039473 3-methylglutaconic aciduria type 5 41 C4225393 3-methylglutaconic aciduria type 7 42 C4040739 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 43 C3553597 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME SMDE03427 614739 C3553597 44 C4540171 3-METHYLGLUTACONIC ACIDURIA, TYPE IX 45 C4310650 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 46 C0580190 3-Phosphoglycerate dehydrogenase deficiency 47 C2936403 46, XX Disorders of Sex Development 48 C2936419 46, XX Testicular Disorders of Sex Development 49 C2751824 46, XY Disorders of Sex Development 50 C2751317 46, XY Sex Reversal 5 51 C3151782 46,XX SEX REVERSAL 3 52 C4479552 46,XX SEX REVERSAL 4 53 C3714042 46,XY Disorder of Sex Development Due To LH Defects 54 C1856273 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 55 C2748896 46,Xy Gonadal Dysgenesis, Complete, Sry-Related 56 C2751325 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy SMDE04305 607080 C2751325 57 C4510744 46,XY partial gonadal dysgenesis SMDE04655 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. 300018|613762|616425|615542|616067|154230|612965 251510 Q56.1 58 C3489793 46,XY Sex Reversal 3 SMDE03355 612965 C3489793 59 C3151064 46,XY SEX REVERSAL 6 SMDE04956 613762 C3151064 60 C4015129 46,XY SEX REVERSAL 9 SMDE05002 616067 C4015129 61 C3669122 5-Alpha Reductase Deficiency 62 C0268525 5-oxoprolinase deficiency dis_5 SMDE04626 63 C4304529 5q14.3 microdeletion syndrome SMDE03862 The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. 613443 228384 Q93.5 64 C4304526 5q35 microduplication syndrome 65 C0740302 5q-syndrome 66 C2931223 6 alpha mercaptopurine sensitivity 67 C0878676 6-pyruvoyl-tetrahydropterin synthase deficiency SMDE01889 C535325 261640 13 E70.1 C0878676 68 C4304514 6q terminal deletion syndrome SMDE03829 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. 75857 Q93.5 69 C2713347 7-Dehydrocholesterol Reductase Deficiency 70 C4750783 7q31 microdeletion syndrome 71 C4304505 8p11.2 deletion syndrome SMDE00517 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. 251066 Q93.5 72 C3711390 9q22.3 Microdeletion 73 C0175701 Aarskog syndrome 74 C2931850 Aase Smith syndrome 2 75 C0265265 Aase syndrome 76 C1838099 ABCD syndrome SMDE03803 600501 C1838099 77 C1563730 Abdominal Cryptorchidism 78 C0270858 Abdominal Migraine 79 C2930930 Abdominal obesity metabolic syndrome 80 C4552048 ABDOMINAL OBESITY-METABOLIC SYNDROME 1 81 C4014361 ABDOMINAL OBESITY-METABOLIC SYNDROME 3 SMDE03165 615812 C4014361 82 C0000737 Abdominal Pain dis_12 83 C1879526 Aberrant Crypt Foci dis_15 84 C0000744 Abetalipoproteinemia dis_16 SMDE04604 85 C1860224 ABLEPHARON-MACROSTOMIA SYNDROME SMDE00082 200110 C1860224 86 C0233514 Abnormal behavior 87 C0520966 Abnormal coordination 88 C1842581 Abnormal corpus callosum morphology 89 C1856019 Abnormal cortical gyration dis_37 90 C0743002 Abnormal Deep Tendon Reflex 91 C1855755 Abnormal immunoglobulin level dis_60 92 C0852413 Abnormal muscle tone 93 C4551596 Abnormal renal morphology dis_93 94 C0000771 Abnormalities, Drug-Induced 95 C4025845 Abnormality iris morphology 96 C4020869 Abnormality of abdomen morphology 97 C4021085 Abnormality of brain morphology 98 C4049796 Abnormality of cardiovascular system morphology dis_118 99 C4023689 Abnormality of copper homeostasis 100 C3550704 Abnormality of digit 101 C4021817 Abnormality of head or neck 102 C1387925 Abnormality of limbs 103 C4021768 Abnormality of metabolism/homeostasis dis_155 104 C4022810 Abnormality of nervous system morphology dis_163 105 C4228778 Abnormality of radial ray 106 C4025874 Abnormality of skull size 107 C4021664 Abnormality of the abdominal wall dis_179 108 C1866129 Abnormality of the cerebellum 109 C4021762 Abnormality of the cerebrum dis_188 110 C4316870 Abnormality of the eye 111 C4025871 Abnormality of the face dis_196 112 C0744356 Abnormality of the genital system dis_203 113 C4021812 Abnormality of the head dis_206 114 C4316788 Abnormality of the intestine 115 C4021780 Abnormality of the liver dis_216 116 C0857379 Abnormality of the pinna 117 C4018871 Abnormality of the respiratory system dis_239 118 C4021790 Abnormality of the skeletal system 119 C4021821 Abnormality of the urinary system dis_254 120 C4025846 Abnormality of vision dis_262 121 C0000809 Abortion, Habitual 122 C0000822 Abortion, Tubal 123 C0000832 Abruptio Placentae 124 C1844862 Abruzzo Erickson syndrome 125 C0014553 Absence Epilepsy 126 C0344307 Absence of pain sensation 127 C1861099 Absence of tibia with polydactyly 128 C4553705 Absence Seizure Disorder 129 C4316903 Absence Seizures dis_278 130 C1855772 Absent corpus callosum cataract immunodeficiency 131 C0426706 Absent kidney 132 C0234146 Absent reflex 133 C4229582 Absent thumb, bilateral 134 C1861923 Acampomelic Campomelic Dysplasia 135 C4551990 Acanthocytosis With Hypobetalipoproteinemia 136 C0473575 Acantholytic Dyskeratotic Epidermal Nevus 137 C2936847 Acatalasemia Japanese type 138 C2936848 Acatalasemia Swiss type 139 C0268419 Acatalasia 140 C0268603 Acetyl-CoA: carboxylase deficiency 141 C0234238 Ache 142 C0265559 Acheiropodia SMDE00465 Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. C536014 200500 931 Q74.8 C0265559 143 C0265273 Achondrogenesis type 1A SMDE03464 Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. C536015 200600 93299 Q77.0 C0265273 144 C0220685 Achondrogenesis type 2 SMDE04582 Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. C536017 200610 93296 Q77.0 C0220685 145 C0265274 Achondrogenesis, type IB (disorder) 146 C0001080 Achondroplasia SMDE01870 DIS00003 Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. D000130 100800 15 Q77.4 C0001080 147 C2674173 Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans SMDE04414 616482 C2674173 148 C0152200 Achromatopsia SMDE02319 Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. 613856|616517|262300|216900|610024|613093 49382 C0152200 149 C1857618 Achromatopsia 2 SMDE00265 216900 C1857618 150 C1849792 Achromatopsia 3 SMDE02978 262300 C1849792 151 C1841721 ACHROMATOPSIA 4 SMDE03133 613856 C1841721 152 C4225297 ACHROMATOPSIA 7 SMDE01514 616517 C4225297 153 C2931753 Achromatopsia incomplete, X-linked 154 C2936797 Acid cholesteryl ester hydrolase deficiency, type 2 155 C0268410 Acid Phosphatase Deficiency SMDE05007 200950 C0268410 156 C3900122 Acid-Labile Subunit Deficiency SMDE05152 615961 C3900122 157 C0001122 Acidosis 158 C0001125 Acidosis, Lactic 159 C0702166 Acne dis_301 DIS00005 160 C4551962 ACNE INVERSA, FAMILIAL, 1 SMDE01219 142690 C1840560 161 C3151037 ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE 162 C3151038 ACNE INVERSA, FAMILIAL, 3 SMDE04430 613737 C3151038 163 C0001144 Acne Vulgaris dis_303 164 C0027859 Acoustic Neuroma 165 C2931758 Acquired angioedema 166 C0158489 Acquired clubfoot 167 C2936664 Acquired Hypogammaglobulinemia 168 C0001175 Acquired Immunodeficiency Syndrome 169 C0454560 Acquired Language Disorders 170 C0751316 Acquired Meningomyelocele 171 C1135773 Acquired Metabolic Diseases, Nervous System 172 C0268443 Acquired Nephrogenic Diabetes Insipidus 173 C0751919 Acquired Neuromyotonia 174 C0220989 Acquired partial lipodystrophy 175 C0751449 Acquired Polyneuropathy 176 C4518087 Acral dystrophic epidermolysis bullosa SMDE04563 Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blistering confined primarily to the hands and feet. 158673 Q81.2 177 C0346037 Acral Lentiginous Malignant Melanoma 178 C4305324 Acral self-healing collodion baby SMDE04397 Acral self-healing collodion baby (SHCB) is a variant of SHCB (see this term) characterized by the presence at birth of a collodion membrane only at the extremities. 281127 Q80.2 179 C0702169 Acrania 180 C0796147 Acrocallosal Syndrome SMDE00345 Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. 200990 36 Q04.0 C3280899|C3277723|C0796147|C2931760 181 C2931760 Acrocallosal syndrome, Schinzel type 182 C1843096 Acrocapitofemoral Dysplasia SMDE04375 Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. 607778 63446 Q78.8 C1843096 183 C3495588 Acrocephalopolydactylous Dysplasia 184 C1275078 Acrocephalopolysyndactyly type 2 185 C1510455 Acrocephalosyndactylia 186 C0030044 Acrocephaly 187 C0001197 Acrodermatitis dis_307 188 C0392439 Acrodermatitis continua of Hallopeau 189 C0221036 Acrodermatitis enteropathica SMDE01747 Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. 201100 37 E83.2 C0221036 190 C0220659 Acrodysostosis SMDE00337 Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay. C538179 101800|614613 950 Q75.4 C0220659 191 C3276228 ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE SMDE03183 101800 C3276228 192 C3553250 ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE SMDE04249 614613 C3553250 193 C1332140 Acrofacial Dysostosis 194 C1860119 Acrofacial dysostosis Rodriguez type 195 C4225317 ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE SMDE03562 616462 C4225317 196 C0238590 Acrogeria SMDE04166 C538187 201200 2500 L90.8 C0238590|C0406584 197 C0406584 Acrogeria, gottron type 198 C0265971 Acrokeratosis Verruciformis of Hopf 199 C0796280 Acromegaloid facial appearance syndrome SMDE02780 Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms). C535655 102150 965 Q87.0 C0796280 200 C0001206 Acromegaly dis_308 SMDE04697 201 C1863616 ACROMELIC FRONTONASAL DYSOSTOSIS SMDE05193 603671 C1863616 202 C0796182 Acromelic frontonasal dysplasia SMDE03853 Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephal, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. C535657 603671 1827 Q75.8 C0796182 203 C2930970 Acromesomelic dysplasia Hunter-Thompson type 204 C4225404 ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE SMDE03486 609441 C4225404 205 C1864356 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE SMDE02047 Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less seveform than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms). C535661 602875 40 Q77.8 C2930970|C1864356 206 C0265287 Acromicric Dysplasia SMDE01795 Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. C535662 102370 969 Q77.8 C0265287 207 C0917990 Acro-Osteolysis 208 C2930971 Acroosteolysis dominant type SMDE02619 Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. D031845|C531695||C535663 102400|102500 955 M89.5 C0917715|C2930971 209 C1863307 Acropectorovertebral Dysplasia, F-Form 210 C0271583 ACTH Deficiency, Isolated SMDE02192 201400 C0342388|C0271583 211 C0001231 ACTH Syndrome, Ectopic dis_310 212 C1857451 Acth-Independent Macronodular Adrenal Hyperplasia SMDE04729 219080 C1857451 213 C4014803 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 SMDE00929 615954 C4014803 214 C1306214 ACTH-Secreting Pituitary Adenoma 215 C3711389 Actin-Accumulation Myopathy 216 C1442958 Actinic porokeratosis 217 C0751779 Action Myoclonus-Renal Failure Syndrome 218 C0234376 Action Tremor dis_311 219 C3714976 ACTIVATED PI3K-DELTA SYNDROME 220 C0600433 Activated Protein C Resistance 221 C0333233 Active Hyperemia 222 C0149821 ACUTE ALCOHOL WITHDRAWAL 223 C0394996 Acute alcoholic intoxication 224 C1720795 Acute Bacterial Prostatitis 225 C0023437 Acute Basophilic Leukemia 226 C0751956 Acute Cerebrovascular Accidents 227 C0521664 Acute Confusional Migraine 228 C0546126 Acute Confusional Senile Dementia 229 C0948089 Acute Coronary Syndrome 230 C4707658 Acute encephalopathy with biphasic seizures and late reduced diffusion 231 C0023440 Acute Erythroblastic Leukemia 232 C2930974 Acute erythroleukemia 233 C2930975 Acute erythroleukemia - M6a subtype 234 C2930977 Acute erythroleukemia - M6b subtype 235 C1455728 Acute fatty liver of pregnancy 236 C3542501 Acute Infective Polyneuritis 237 C4551910 Acute Inflammatory Demyelinating Polyneuropathy 238 C0162565 Acute intermittent porphyria SMDE02370 Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. D017118 176000 79276 E80.2 C0162565 239 C2609414 Acute kidney injury dis_324 240 C1565662 Acute Kidney Insufficiency 241 C0022672 Acute Kidney Tubular Necrosis 242 C0242488 Acute Lung Injury dis_328 243 C0023449 Acute lymphocytic leukemia 244 C0023462 Acute Megakaryocytic Leukemias 245 C3852984 Acute Mesenteric Arterial Embolus 246 C3852987 Acute Mesenteric Arterial Thrombosis 247 C0023465 Acute monocytic leukemia 248 C1879321 Acute Myeloid Leukemia (AML-M2) 249 C2930976 Acute myeloid leukemia FAB-M6 250 C4707178 Acute myeloid leukemia with CEBPA somatic mutations 251 C1292773 Acute myeloid leukemia with multilineage dysplasia 252 C4511003 Acute myeloid leukemia with t(8;16)(p11;p13) translocation 253 C1292775 Acute myeloid leukemia, 11q23 abnormalities 254 C0026998 Acute Myeloid Leukemia, M1 255 C0522631 Acute myeloid leukemia, minimal differentiation 256 C0023479 Acute myelomonocytic leukemia 257 C4706387 Acute necrotizing encephalopathy of childhood 258 C0023487 Acute Promyelocytic Leukemia SMDE00100 DIS00019 612376 C0023487 259 C0519066 Acute Q fever 260 C0267937 Acute recurrent pancreatitis 261 C0857501 Acute schizophrenia 262 C0280141 Acute Undifferentiated Leukemia 263 C0001349 Acute-Phase Reaction 264 C1970173 Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of 265 C0431129 Adamantinous Craniopharyngioma 266 C0265268 Adams Oliver syndrome 267 C4551482 Adams-Oliver syndrome 1 SMDE00907 100300 C1970140|C0265268 268 C3280182 ADAMS-OLIVER SYNDROME 2 SMDE02069 614219 C3280182 269 C3553748 ADAMS-OLIVER SYNDROME 3 SMDE03515 614814 C3553748 270 C3809092 ADAMS-OLIVER SYNDROME 4 SMDE03564 615297 C3809092 271 C4014970 ADAMS-OLIVER SYNDROME 5 SMDE00144 616028 C4014970 272 C4225271 ADAMS-OLIVER SYNDROME 6 SMDE03995 616589 C4225271 273 C0858355 Addicted to cocaine 274 C0001403 Addison Disease 275 C0268120 Adenine phosphoribosyltransferase deficiency SMDE04844 Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. 614723 976 E79.8 C0268120|C3665382 276 C0001418 Adenocarcinoma dis_348 277 C1332243 Adenocarcinoma of ampulla of Vater 278 C0338106 Adenocarcinoma of colon 279 C0279628 Adenocarcinoma Of Esophagus 280 C1319315 Adenocarcinoma of large intestine 281 C0152013 Adenocarcinoma of lung (disorder) dis_349 282 C0007112 Adenocarcinoma of prostate 283 C0149978 Adenocarcinoma of rectum 284 C0205641 Adenocarcinoma, Basal Cell 285 C0206681 Adenocarcinoma, Clear Cell 286 C4016849 ADENOCARCINOMA, COLONIC, SOMATIC 287 C1569637 Adenocarcinoma, Endometrioid 288 C0205642 Adenocarcinoma, Oxyphilic 289 C0205645 Adenocarcinoma, Tubular 290 C0751437 Adenohypophyseal Diseases 291 C0010606 Adenoid Cystic Carcinoma 292 C0001430 Adenoma dis_350 293 C0205646 Adenoma, Basal Cell 294 C0205648 Adenoma, Microcystic 295 C0205649 Adenoma, Monomorphic 296 C0205651 Adenoma, Trabecular 297 C0032580 Adenomatous Polyposis Coli 298 C0206677 Adenomatous Polyps 299 C0268124 Adenosine deaminase deficiency 300 C2931781 Adenosine monophosphate deaminase deficiency 301 C1863224 Adenosine Triphosphate, Elevated, Of Erythrocytes SMDE00372 102900 C1863224 302 C2675459 Adenylate Kinase Deficiency, Hemolytic Anemia Due To SMDE01249 612631 C2675459 303 C0268126 Adenylosuccinate lyase deficiency (disorder) 304 C4721811 Adenylosuccinate lyase deficiency type 1 305 C4721814 Adenylosuccinate lyase deficiency type 2 306 C4721813 Adenylosuccinate lyase deficiency type 3 307 C4721812 Adenylosuccinate lyase deficiency type 4 308 C3542500 ADH-Resistant Diabetes Insipidus 309 C0234357 Adiadochokinesis 310 C2675518 Adiponectin Deficiency 311 C2675517 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 312 C1847530 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 2 313 C1847529 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 3 314 C0001546 Adjustment Disorders 315 C0752288 Adjustment Sleep Disorder 316 C4014538 ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder 317 C1449720 Adolescent Gynecomastia 318 C4317171 Adolescent Obesity 319 C4704956 Adolescent Overweight 320 C4017332 ADRENAL ADENOMA, SOMATIC 321 C0750887 Adrenal Cancer 322 C0001614 Adrenal Cortex Diseases 323 C0206667 Adrenal Cortical Adenoma 324 C0405580 Adrenal cortical hypofunction 325 C0001621 Adrenal Gland Diseases 326 C0001623 Adrenal gland hypofunction 327 C0001624 Adrenal Gland Neoplasms 328 C4551683 Adrenal Gland Pheochromocytoma 329 C2931782 Adrenal hyperplasia 2 330 C0268285 Adrenal hyperplasia, congenital, type 5 331 C1859977 Adrenal Hypoplasia, Cytomegalic Type 332 C3502132 Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal 333 C3151055 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE SMDE03503 613743 C3151055 334 C0206686 Adrenocortical carcinoma dis_360 335 C1859972 ADRENOCORTICAL CARCINOMA, HEREDITARY SMDE04923 202300 C1859973|C1859972 336 C0342388 Adrenocorticotropic hormone (ACTH) deficiency (disorder) 337 C0162309 Adrenoleukodystrophy SMDE00581 300100 C0162309|C1527231 338 C0282525 Adrenoleukodystrophy, Neonatal 339 C1527231 Adrenomyeloneuropathy 340 C0751606 Adult Acute Lymphocytic Leukemia 341 C0220615 Adult Acute Myeloblastic Leukemia 342 C0278875 Adult Craniopharyngioma 343 C1332201 Adult Diffuse Large B-Cell Lymphoma 344 C0341703 Adult Fanconi syndrome 345 C0751172 Adult Glycogen Storage Disease Type II 346 C0279607 Adult Hepatocellular Carcinoma 347 C0220597 Adult Hodgkin Lymphoma 348 C0268413 Adult hypophosphatasia (disorder) 349 C0268374 Adult junctional epidermolysis bullosa (disorder) 350 C0751262 Adult Learning Disorders 351 C0278622 Adult Malignant Peripheral Nerve Sheath Tumor 352 C0278876 Adult Medulloblastoma 353 C0751716 Adult Neuroaxonal Dystrophy 354 C0022797 Adult Neuronal Ceroid Lipofuscinosis 355 C0279070 Adult Oligodendroglioma 356 C3842001 Adult only 357 C3164344 Adult onset autosomal dominant leukodystrophy 358 C0751914 Adult Pelizaeus-Merzbacher Disease 359 C3887650 Adult Rickets 360 C0751489 Adult Sandhoff Disease 361 C1863204 ADULT SYNDROME SMDE03819 ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia C538052 103285 978 Q87.2 C1863204 362 C0023493 Adult T-Cell Lymphoma/Leukemia 363 C0221056 Adult type dermatomyositis 364 C1332218 Adult Type Ovarian Granulosa Cell Tumor 365 C4511138 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 366 C1863844 Adult-onset citrullinemia type 2 367 C4749506 Adult-onset distal myopathy due to valosin containing protein mutation 368 C0752197 Adult-Onset Dystonias 369 C0752198 Adult-Onset Idiopathic Focal Dystonias 370 C0752199 Adult-Onset Idiopathic Torsion Dystonias 371 C1842914 Adult-Onset Vitelliform Macular Dystrophy 372 C0545053 Advanced bone age 373 C0751758 Advanced Sleep Phase Syndrome 374 C3807327 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 SMDE05141 604348 C3807327 375 C3808874 ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 SMDE01925 615224 C3808874 376 C1858496 Advanced Sleep-Phase Syndrome, Familial 377 C1879645 Adverse Event by CTCAE Category 378 C0041755 Adverse reaction to drug dis_381 379 C0001723 Affective Disorders, Psychotic dis_382 380 C0001733 Afibrinogenemia 381 C0343640 African Burkitt's lymphoma 382 C0001768 Agammaglobulinemia 383 C4016215 AGAMMAGLOBULINEMIA 1 384 C3152144 AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE SMDE03013 601495 C3152144 385 C3150750 AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE SMDE04777 613500 C3150750 386 C4015923 AGAMMAGLOBULINEMIA 3 387 C3150751 AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE SMDE03231 613501 C3150751 388 C3150752 AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE SMDE02955 613502 C3150752 389 C3150753 AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT SMDE03211 613506 C3150753 390 C4016221 AGAMMAGLOBULINEMIA 6 391 C3150207 AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE SMDE03971 612692 C3150207 392 C3554689 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE SMDE02501 615214 C3554689 393 C4310786 AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT SMDE04267 616941 C4310786 394 C1832241 Agammaglobulinemia, non-Bruton type 395 C1845903 AGAMMAGLOBULINEMIA, X-LINKED, TYPE 2 (disorder) 396 C0085758 Aganglionosis, Colonic 397 C1257840 Aganglionosis, Rectosigmoid Colon 398 C0242383 Age related macular degeneration 399 C0175754 Agenesis of corpus callosum 400 C2880562 Age-related cortical cataract 401 C2677774 Age-Related Macular Degeneration type 11 402 C0751292 Age-Related Memory Disorders 403 C0031106 Aggressive Periodontitis 404 C1112486 Aggressive Systemic Mastocytosis 405 C0001824 Agranulocytosis 406 C0001828 Agricultural Workers' Diseases 407 C1879312 Agyria 408 C4014419 AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 409 C1837530 AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 410 C0393591 AICARDI-GOUTIERES SYNDROME 411 C0796126 AICARDI-GOUTIERES SYNDROME 1 SMDE01132 225750 C0796126|C3150315 412 C3489724 Aicardi-Goutieres Syndrome 2 SMDE02251 610181 C3489724 413 C1835916 AICARDI-GOUTIERES SYNDROME 3 SMDE02099 610329 C1835916 414 C1835912 AICARDI-GOUTIERES SYNDROME 4 SMDE01448 610333 C1835912 415 C2749659 AICARDI-GOUTIERES SYNDROME 5 (disorder) 416 C3539013 AICARDI-GOUTIERES SYNDROME 6 SMDE04826 615010 C3539013 417 C3888244 AICARDI-GOUTIERES SYNDROME 7 SMDE04433 615846 C3888244 418 C0001849 AIDS Dementia Complex 419 C0276535 AIDS with Kaposi's sarcoma 420 C0162526 AIDS-Related Opportunistic Infections 421 C0001883 Airway Obstruction 422 C0392156 Akathisia 423 C0001890 Akinetic Petit Mal 424 C0751207 Akinetic-Rigid Variant of Huntington Disease 425 C1848651 Al Awadi syndrome 426 C4540156 AL KAISSI SYNDROME 427 C3809738 ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME SMDE01944 615510 C3809738 428 C0085280 Alagille Syndrome 429 C1956125 Alagille Syndrome 1 SMDE03214 118450 C1956125|C0085280 430 C1857761 Alagille Syndrome 2 SMDE03872 610205 C1857761 431 C4310702 ALAZAMI-YUAN SYNDROME 432 C4551971 Albers-Schonberg Disease, Autosomal Recessive 433 C0001916 Albinism dis_396 434 C2931875 Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 435 C0078917 Albinism, Ocular 436 C1845069 ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) 437 C1863198 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 438 C0078918 Albinism, Oculocutaneous 439 C1847024 ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 440 C0342683 ALBINISM, OCULOCUTANEOUS, TYPE III SMDE00810 203290 C0342683 441 C3888401 ALBINISM, OCULOCUTANEOUS, TYPE V 442 C3805375 ALBINISM, OCULOCUTANEOUS, TYPE VI 443 C3808786 ALBINISM, OCULOCUTANEOUS, TYPE VII SMDE02667 615179 C3808786 444 C0078921 Albinism, Tyrosinase-Negative 445 C0078922 Albinism, Tyrosinase-Positive 446 C0078923 Albinism, Yellow-Mutant 447 C2931404 Albright's hereditary osteodystrophy 448 C0001925 Albuminuria dis_397 449 C0085762 Alcohol abuse dis_400 450 C1959897 Alcohol consumption during pregnancy 451 C3146244 Alcohol Related Birth Defect 452 C0814154 Alcohol Related Neurodevelopmental Disorder 453 C0678306 alcohol sensitivity 454 C2674838 ALCOHOL SENSITIVITY, ACUTE SMDE03017 610251 C2608086|C2674838 455 C1879677 Alcohol Toxicity 456 C0001956 Alcohol Use Disorder 457 C0001957 Alcohol Withdrawal Delirium 458 C0586323 Alcohol Withdrawal Seizures 459 C0236663 Alcohol withdrawal syndrome dis_402 460 C0751868 Alcohol Withdrawal-Induced Major Motor Seizure 461 C0001969 Alcoholic Intoxication dis_403 462 C0001973 Alcoholic Intoxication, Chronic dis_404 463 C0023896 Alcoholic Liver Diseases 464 C2718067 Alcoholic Steatohepatitis 465 C0236970 Alcohol-Induced Disorders 466 C0751865 Alcohol-Induced Disorders, Nervous System 467 C0236664 Alcohol-Related Disorders dis_399 468 C0270726 Alexander Disease SMDE04513 203450 C0270726 469 C0002018 Alexia dis_407 470 C1333294 ALK positive large B-cell lymphoma 471 C0151849 Alkaline phosphatase raised 472 C0002063 Alkalosis 473 C0002066 Alkaptonuria SMDE00249 Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). C537862|D000474 203500 56 E70.2 C0002066|C2931645 474 C4693347 ALKURAYA-KUCINSKAS SYNDROME 475 C0795889 Allan-Herndon-Dudley syndrome (AHDS) 476 C0266313 Allanson Pantzar McLeod syndrome 477 C1527304 Allergic Reaction dis_415 DIS00046 478 C2607914 Allergic rhinitis (disorder) 479 C0559470 Allergy to peanuts 480 C0458247 Allodynia 481 C0002152 Alloxan Diabetes 482 C0431363 Alobar Holoprosencephaly 483 C0002170 Alopecia dis_421 484 C0002171 Alopecia Areata dis_423 485 C1863093 Alopecia congenita keratosis palmoplantaris 486 C0263505 Alopecia universalis dis_426 SMDE01861 487 C1859877 Alopecia universalis congenita SMDE04728 203655 C1859877 488 C4083212 Alopecia, Male Pattern 489 C2677535 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome SMDE03952 612079 C2677535 490 C1859878 Alopecia-Mental Retardation Syndrome 1 491 C0205710 Alpers Syndrome (disorder) 492 C0221757 alpha 1-Antitrypsin Deficiency 493 C1260396 Alpha thalassemia intermedia 494 C0268187 alpha, alpha-Trehalase deficiency 495 C1835931 ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY 496 C3279661 alpha-2-Macroglobulin Deficiency SMDE03682 614036 C3279661 497 C2752081 ALPHA-2-PLASMIN INHIBITOR DEFICIENCY SMDE03979 262850 C2752081 498 C1527317 Alpha-Aminoadipic Semialdehyde Deficiency Disease 499 C1837317 Alpha-B Crystallinopathy 500 C2936406 alpha-Dystroglycanopathies 501 C1863081 alpha-Fetoprotein Deficiency SMDE01503 615969 C1863081 502 C1863080 ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF 503 C2752074 ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY SMDE03425 203740 C2752074 504 C2713321 alpha-L-Iduronidase Deficiency 505 C0024748 alpha-Mannosidosis 506 C3280428 Alpha-Methylacyl-CoA Racemase Deficiency SMDE01237 614307 C3280428 507 C2936332 Alpha-Sarcoglycanopathies 508 C0002312 alpha-Thalassemia SMDE02138 604131 C0002312 509 C0795917 Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type 510 C0585216 Alpha-Thalassemia Myelodysplasia Syndrome SMDE00621 300448 C0585216 511 C0475813 Alpha-thalassemia/mental retardation syndrome (301040) is an allelic disorder 512 C1845055 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 513 C1567741 Alport Syndrome 514 C4746986 ALPORT SYNDROME 1, X-LINKED 515 C4746745 ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 516 C4746547 ALPORT SYNDROME 3, AUTOSOMAL DOMINANT 517 C1567743 Alport Syndrome, Autosomal Dominant SMDE01534 104200 C1567743 518 C1567744 Alport Syndrome, Autosomal Recessive SMDE03749 203780 C1567744 519 C2931253 Alport syndrome, dominant type 520 C1846242 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 521 C2931254 Alport syndrome, recessive type 522 C1567742 Alport Syndrome, X-Linked SMDE02524 301050 C1567742 523 C4085595 AL-RAQAD SYNDROME SMDE04698 616459 C4085595 524 C0268425 Alstrom Syndrome SMDE05097 203800 C0268425 525 C0338488 Alternating hemiplegia of childhood 526 C3549447 ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 SMDE04248 104290 C3549447 527 C3553788 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 SMDE01963 614820 C3553788 528 C0002382 Alveolar Bone Loss 529 C2677362 Alveolar capillary dysplasia 530 C0034219 Alveolar pyorrhea 531 C0206655 Alveolar rhabdomyosarcoma dis_429 532 C0206657 Alveolar Soft Part Sarcoma dis_430 SMDE00299 533 C4721507 Alveolitis, Fibrosing 534 C3810041 ALZHEIMER DISEASE 18 535 C1863051 ALZHEIMER DISEASE 2 SMDE00760 104310 C1863051 536 C1847200 ALZHEIMER DISEASE 4 SMDE00132 606889 C1847200 537 C1837149 Alzheimer Disease 9 538 C4282179 ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO 539 C0750901 Alzheimer Disease, Early Onset 540 C1843015 Alzheimer Disease, Familial, 3, with Spastic Paraparesis and Apraxia 541 C1843013 Alzheimer disease, familial, type 3 542 C0494463 Alzheimer Disease, Late Onset 543 C1838990 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 544 C0002395 Alzheimer's Disease dis_431 DIS00051 545 C0750900 Alzheimer's Disease, Focal Onset 546 C0376288 Amaurosis 547 C2931258 Amaurosis congenita of Leber, type 1 548 C1857588 Amaurosis hypertrichosis 549 C0282220 Amaurotic Familial Idiocy 550 C0266362 Ambiguous Genitalia 551 C0002448 Ameloblastoma 552 C0002452 Amelogenesis Imperfecta dis_436 553 C0399372 Amelogenesis Imperfecta hypomaturation type 554 C0399367 Amelogenesis imperfecta local hypoplastic form 555 C2931783 Amelogenesis imperfecta nephrocalcinosis 556 C1290537 Amelogenesis imperfecta pigmented hypomaturation type 557 C1856932 Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth) 558 C0399373 Amelogenesis imperfecta, hypomaturation hypoplasia type with taurodontism 559 C2673922 Amelogenesis Imperfecta, Hypomaturation Type, Iia1 SMDE04174 204700 C2673922 560 C2675858 Amelogenesis Imperfecta, Hypomaturation Type, Iia2 SMDE04558 612529 C2675858 561 C2750771 Amelogenesis Imperfecta, Hypomaturation Type, Iia3 SMDE03602 613211 C2750771 562 C3553830 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 SMDE04896 614832 C3553830 563 C4014578 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 SMDE04643 615887 C4014578 564 C4310665 AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 565 C1845053 Amelogenesis Imperfecta, Hypomaturation Type, with Snow-Capped Teeth 566 C1845052 AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 567 C4011403 AMELOGENESIS IMPERFECTA, TYPE IA SMDE00095 104530 C4011403 568 C0399368 Amelogenesis Imperfecta, Type IB SMDE00373 104500 C0399368 569 C2673923 Amelogenesis Imperfecta, Type Ic SMDE03817 204650 C2673923 570 C4225394 AMELOGENESIS IMPERFECTA, TYPE IF SMDE04070 616270 C4225394 571 C4015557 AMELOGENESIS IMPERFECTA, TYPE IH SMDE02738 616221 C4015557 572 C0399376 Amelogenesis Imperfecta, Type III SMDE01224 130900 C0399376 573 C4539891 AMELOGENESIS IMPERFECTA, TYPE IIIB 574 C4310630 AMELOGENESIS IMPERFECTA, TYPE IJ 575 C1863012 Amelogenesis Imperfecta, Type IV SMDE02928 104510 C1863012 576 C0002453 Amenorrhea dis_437 577 C1527310 Ametropia 578 C0002514 Amino Acid Metabolism, Inborn Errors 579 C0750905 Amino Acid Metabolism, Inherited Disorders 580 C1835922 Aminoacylase 1 deficiency SMDE04343 609924 C1835922 581 C3542499 Aminoacylase 2 Deficiency 582 C3495483 Amish Brittle Hair Brain Syndrome 583 C1836824 Amish Infantile Epilepsy Syndrome 584 C0002622 Amnesia dis_440 585 C0750907 Amnestic State 586 C0236807 Amphetamine Abuse 587 C0236804 Amphetamine Addiction 588 C0236733 Amphetamine-Related Disorders dis_441 589 C4551986 AMR Syndrome 590 C0393679 Amygdalo-Hippocampal Epilepsy 591 C2936915 Amylo-1,6-glucosidase deficiency 592 C0206245 Amyloid Neuropathies, Familial 593 C0342608 Amyloid Polyneuropathy, British Type (disorder) 594 C4551500 Amyloid Polyneuropathy, Iowa Type 595 C0268386 Amyloid Polyneuropathy, Swiss Type 596 C0002726 Amyloidosis dis_443 DIS00053 597 C4554601 Amyloidosis cutis dyschromia 598 C0740340 Amyloidosis, Familial 599 C0268389 Amyloidosis, familial visceral SMDE01630 105200 C0268389 600 C2751492 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED SMDE02113 105210 C2751492|C3151470|C3151471 601 C0268397 Amyloidosis, Primary Cutaneous 602 C4551501 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 SMDE05071 105250 C0268398 603 C3151404 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2 SMDE00085 613955 C3151404 604 C4554421 AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3 605 C0002736 Amyotrophic Lateral Sclerosis dis_446 SMDE02051 DIS00054 606 C1862939 AMYOTROPHIC LATERAL SCLEROSIS 1 SMDE00788 105400 C1862941|C1862939|C3542025 607 C3502417 Amyotrophic Lateral Sclerosis 10 608 C2677565 AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) 609 C2675491 AMYOTROPHIC LATERAL SCLEROSIS 11 SMDE04176 612577 C2675491 610 C3150692 AMYOTROPHIC LATERAL SCLEROSIS 12 SMDE03077 613435 C3150692 611 C3151403 AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA SMDE05128 613954 C3151403 612 C3275459 AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 613 C3280587 AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE SMDE03512 614373 C3280587 614 C3553719 AMYOTROPHIC LATERAL SCLEROSIS 18 SMDE03051 614808 C3553719 615 C3715155 AMYOTROPHIC LATERAL SCLEROSIS 19 SMDE01018 615515 C3715155 616 C1859807 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 617 C3715156 AMYOTROPHIC LATERAL SCLEROSIS 20 SMDE04577 615426 C3715156 618 C3807521 AMYOTROPHIC LATERAL SCLEROSIS 21 SMDE01934 606070 C3807521 619 C4015512 AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA SMDE01252 616208 C4015512 620 C4693381 AMYOTROPHIC LATERAL SCLEROSIS 23 621 C1865409 Amyotrophic Lateral Sclerosis 4, Juvenile SMDE05054 602433 C1865409 622 C1865864 AMYOTROPHIC LATERAL SCLEROSIS 5 623 C1842675 AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 624 C2750729 Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 625 C1837728 AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) 626 C2678468 Amyotrophic Lateral Sclerosis 9 SMDE01489 611895 C2678468 627 C0393554 Amyotrophic Lateral Sclerosis With Dementia 628 C1836076 Amyotrophic Lateral Sclerosis, Chmp2B-Related 629 C4551993 Amyotrophic Lateral Sclerosis, Familial 630 C0543859 Amyotrophic Lateral Sclerosis, Guam Form 631 C1862941 Amyotrophic Lateral Sclerosis, Sporadic 632 C4016314 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO 633 C4693523 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 634 C4693609 AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 635 C1834304 AMYOTROPHY, HEREDITARY NEURALGIC SMDE00254 162100 C1834304 636 C1865384 Amyotrophy, monomelic 637 C0279637 Anal carcinoma 638 C0878666 Analbuminemia SMDE01116 616000 C0878666 639 C0002792 anaphylaxis 640 C0002793 Anaplasia 641 C0334579 Anaplastic astrocytoma 642 C0205696 Anaplastic carcinoma 643 C0280788 Anaplastic Ependymoma 644 C1332079 Anaplastic Large Cell Lymphoma, ALK-Positive 645 C0431108 Anaplastic Oligoastrocytoma 646 C0334590 Anaplastic Oligodendroglioma 647 C0238461 Anaplastic thyroid carcinoma 648 C0151603 Anasarca dis_457 649 C1846796 Anauxetic dysplasia SMDE02268 607095 C1846796 650 C4551965 ANAUXETIC DYSPLASIA 1 651 C4479357 ANAUXETIC DYSPLASIA 2 652 C1851526 Ancell-Spiegler cylindromas 653 C1563715 Andersen Syndrome 654 C3715192 ANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME 655 C2713546 Androgen Receptor Deficiency 656 C0162311 Androgenetic Alopecia 657 C0039585 Androgen-Insensitivity Syndrome 658 C0002871 Anemia dis_460 DIS00058 659 C3810185 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib SMDE01359 615631 C3810185 660 C1260899 Anemia, Diamond-Blackfan 661 C1857719 Anemia, Diamond-Blackfan, 3 662 C0002878 Anemia, Hemolytic dis_462 663 C0002879 Anemia, Hemolytic, Acquired 664 C0002881 Anemia, Hemolytic, Congenital 665 C0002882 Anemia, Hemolytic, Congenital Nonspherocytic 666 C0002883 Anemia, Hemolytic, Idiopathic Acquired 667 C0221409 Anemia, hereditary spherocytic hemolytic 668 C2673913 Anemia, Hypochromic Microcytic, With Iron Overload 669 C3806153 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1 SMDE01876 206100 C3806153 670 C3808920 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 SMDE05076 615234 C3808920 671 C0002886 Anemia, Macrocytic 672 C0002888 Anemia, Megaloblastic 673 C0002889 Anemia, Microangiopathic 674 C0002891 Anemia, Neonatal 675 C2720289 ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY SMDE01020 300908 C2720289 676 C0002895 Anemia, Sickle Cell 677 C4225425 ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY SMDE04058 205950 C4225425 678 C4225155 ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY SMDE01575 616860 C4225155 679 C4225428 ANEMIA, SIDEROBLASTIC, 4 SMDE00328 182170 C4225428 680 C1845028 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA SMDE01480 301310 C1845028 681 C2673914 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 682 C0002897 Anemia, Splenic 683 C3550856 ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES SMDE00148 300835 C3550856 684 C0002902 Anencephaly 685 C0002938 Aneuploidy 686 C0002940 Aneurysm dis_467 687 C0751000 Aneurysm, Anterior Cerebral Artery 688 C0740386 Aneurysm, Anterior Communicating Artery 689 C0751001 Aneurysm, Basilar Artery 690 C0002949 Aneurysm, Dissecting 691 C1862932 ANEURYSM, INTRACRANIAL BERRY, 1 (disorder) 692 C0740385 Aneurysm, Middle Cerebral Artery 693 C0740387 Aneurysm, Posterior Cerebral Artery 694 C0751002 Aneurysm, Posterior Communicating Artery 695 C1739384 Angel shaped phalangoepiphyseal dysplasia 696 C0162635 Angelman Syndrome SMDE04457 105830 C1412397|C0162635 697 C0002962 Angina Pectoris dis_469 DIS00063 698 C0002965 Angina, Unstable 699 C1527197 Angioblastic Meningioma 700 C2363903 Angiocentric glioma 701 C0002994 Angioedema dis_471 DIS00064 702 C3806711 ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO 703 C0019243 Angioedemas, Hereditary dis_473 704 C0334660 Angioendotheliomatosis 705 C4017331 ANGIOFIBROMA, SOMATIC 706 C0020981 Angioimmunoblastic Lymphadenopathy 707 C0002985 Angiokeratoma dis_476 708 C0206632 Angiolipoma 709 C0017531 Angiolymphoid hyperplasia 710 C1959588 Angioma 711 C0334608 Angiomatous Meningioma 712 C2673195 Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps SMDE02197 611773 C2673195 713 C0017605 Angle Closure Glaucoma 714 C3279786 ANHAPTOGLOBINEMIA 715 C0178417 Anhedonia 716 C1862871 ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS SMDE03892 106190 C1862871 717 C0730379 Anhydramnios 718 C1706004 Anhydrotic Ectodermal Dysplasias 719 C0024667 Animal Mammary Neoplasms 720 C0003076 Aniridia 721 C4310695 ANIRIDIA 3 722 C0344543 Aniridia type 2 723 C0003081 Anisometropia 724 C0038013 Ankylosing spondylitis dis_483 725 C0003090 Ankylosis dis_484 726 C0265998 ANONYCHIA 727 C1832661 ANOPHTHALMIA AND PULMONARY HYPOPLASIA 728 C0003119 Anophthalmos 729 C0266215 Anorectal atresia 730 C3495676 Anorectal Malformations 731 C0003123 Anorexia dis_489 732 C0003125 Anorexia Nervosa dis_491 DIS00067 733 C0003126 Anosmia dis_492 734 C0003128 Anovulation 735 C0003129 Anoxemia 736 C0003130 Anoxia 737 C0995195 Anoxia of brain 738 C0752306 Anoxia-Ischemia, Brain 739 C0752307 Anoxia-Ischemia, Cerebral 740 C0003132 Anoxic Encephalopathy 741 C0752305 Anoxic-Ischemic Encephalopathy 742 C0393953 Anterior Cerebral Circulation Infarction 743 C0751012 Anterior Choroidal Artery Infarction 744 C0751952 Anterior Circulation Brain Infarction 745 C0154681 Anterior Horn Cell Disease 746 C0751711 Anterior Ischemic Optic Neuropathy 747 C1859775 Anterior pituitary hypoplasia 748 C3551443 ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 749 C4551992 ANTERIOR SEGMENT DYSGENESIS 1 SMDE00018 107250 C1862839 750 C4310809 ANTERIOR SEGMENT DYSGENESIS 5 SMDE04953 604229 C4310809 751 C3151617 ANTERIOR SEGMENT DYSGENESIS 7 SMDE03221 269400 C3151617 752 C4310622 ANTERIOR SEGMENT DYSGENESIS 8 SMDE00868 617319 C4310622 753 C1862839 Anterior segment mesenchymal dysgenesis 754 C0003165 Anthracosis 755 C3150738 Antibody Deficiency due to Defect in CD19 756 C0003257 Antibody Deficiency Syndrome 757 C0085278 Antiphospholipid Syndrome dis_503 DIS00071 758 C3489734 Anti-plasmin deficiency, congenital 759 C0003431 Antisocial Personality Disorder 760 C0272375 Antithrombin III Deficiency SMDE03030 613118 C0272375 761 C2350233 Antley-Bixler Syndrome Phenotype 762 C1860042 Antley-Bixler Syndrome with Disordered Steroidogenesis 763 C3150099 ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS SMDE01171 201750 C3150099 764 C2936791 Antley-Bixler Syndrome, Autosomal Dominant 765 C0003460 Anuria 766 C0003463 Anus Neoplasms 767 C0003466 Anus, Imperforate 768 C0003467 Anxiety dis_504 769 C0003469 Anxiety Disorders dis_505 DIS00073 770 C1279420 Anxiety neurosis (finding) 771 C0376280 Anxiety States, Neurotic 772 C0003486 Aortic Aneurysm dis_507 773 C0162871 Aortic Aneurysm, Abdominal dis_509 774 C1853365 AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 775 C4284414 AORTIC ANEURYSM, FAMILIAL THORACIC 10 776 C4479235 AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO 777 C2674574 Aortic aneurysm, familial thoracic 3 778 C1851504 Aortic aneurysm, familial thoracic 4 SMDE00726 132900 C1851504 779 C2673186 Aortic Aneurysm, Familial Thoracic 6 SMDE00625 611788 C2673186 780 C3151077 AORTIC ANEURYSM, FAMILIAL THORACIC 7 SMDE00834 613780 C3151077 781 C3809513 AORTIC ANEURYSM, FAMILIAL THORACIC 8 SMDE01471 615436 C3809513 782 C4015368 AORTIC ANEURYSM, FAMILIAL THORACIC 9 SMDE04104 616166 C4015368 783 C0741160 Aortic Aneurysm, Ruptured 784 C0162872 Aortic Aneurysm, Thoracic 785 C0340630 Aortic Aneurysm, Thoracoabdominal 786 C0003493 Aortic Diseases 787 C0003496 Aortic Rupture 788 C0428791 Aortic valve calcification dis_514 789 C3887892 Aortic Valve Disease 1 SMDE00068 109730 C3887892|C1260873|C0149630|C0428791 790 C3542024 AORTIC VALVE DISEASE 2 SMDE03668 614823 C3542024|C0003507 791 C1260873 Aortic valve disorder 792 C0003504 Aortic Valve Insufficiency 793 C0003510 Aortitis Syndrome 794 C0001193 Apert syndrome SMDE03318 Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly. D000168 101200 87 Q87.0 C0001193|C1863389|C1863391|C1510455 795 C1863389 Apert-Crouzon Disease 796 C1853230 Aphakia, congenital primary 797 C0003537 Aphasia dis_517 798 C0003546 Aphasia, Acquired 799 C0234462 Aphasia, Ageusic 800 C0750917 Aphasia, Auditory Discriminatory 801 C0750918 Aphasia, Commisural 802 C0234472 Aphasia, Functional 803 C0234469 Aphasia, Global 804 C0234474 Aphasia, Graphomotor 805 C0234476 Aphasia, Intellectual 806 C0454576 Aphasia, Mixed 807 C0750919 Aphasia, Post-Ictal 808 C0750920 Aphasia, Post-Traumatic 809 C0338457 Aphasia, Progressive 810 C0234482 Aphasia, Semantic 811 C0234484 Aphasia, Syntactical 812 C0282160 Aplasia Cutis Congenita SMDE00915 Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies. 107600 1114 Q84.8 C0282160 813 C1838329 APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS 814 C0158667 Aplasia of Lacrimal and Salivary Glands SMDE04964 180920 C0158667|C1867059 815 C3179508 Aplasia/Hypoplasia of the thumb 816 C0002874 Aplastic Anemia dis_523 SMDE04154 817 C0348890 Aplastic anemia, idiopathic 818 C0003578 Apnea dis_525 819 C1867468 Apnea, Postanesthetic 820 C0342898 Apolipoprotein A-I deficiency SMDE00011 Apolipoprotein AI (Apo A-I) deficiency is a rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). D052456 604091 425 E78.6 C1704429|C0342898 821 C1720779 Apolipoprotein C-II Deficiency (disorder) 822 C3151467 Apolipoprotein C-III Deficiency SMDE04153 614028 C3151467 823 C3887949 Apparent mineralocorticoid excess SMDE03152 218030 C3887949|C2936861 824 C0003615 Appendicitis 825 C0003621 Appetite Disorders 826 C0264611 Apraxia of Phonation 827 C3495144 Apraxia, Articulatory 828 C0750927 Apraxia, Developmental Verbal 829 C0750928 Apraxia, Facial-Oral 830 C0422892 Apraxia, Gestural 831 C0234527 Apraxia, Motor 832 C0454608 Apraxia, Oral 833 C0349391 Apraxia, Verbal 834 C0003635 Apraxias 835 C0431349 Aprosencephaly 836 C0233726 Aprosodia 837 C2936786 Aqueductal Stenosis 838 C0003706 Arachnodactyly 839 C0268611 Arakawa syndrome 2 840 C0003756 Arenaviridae Infections 841 C0600176 Argentaffinoma 842 C2675179 Arginine:Glycine Amidinotransferase Deficiency 843 C0751750 Argininosuccinic Acid Synthetase Deficiency Disease, Partial 844 C0751751 Argininosuccinic Acid Synthetase Deficiency, Complete 845 C0268547 Argininosuccinic Aciduria SMDE00026 Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting,hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. D056807 207900 23 E72.2 C0268547 846 C0078982 Arhinencephaly 847 C1863878 Arhinia, choanal atresia, and microphthalmia SMDE03946 603457 C1863878 848 C1855675 Arima syndrome 849 C0003803 Arnold Chiari Malformation 850 C0750929 Arnold-Chiari Malformation, Type I 851 C0750931 Arnold-Chiari Malformation, Type III 852 C0750932 Arnold-Chiari Malformation, Type IV 853 C1960539 Aromatase deficiency SMDE01725 Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. C537436 613546 91 E25.8 C1960539|C0878680|C0853662 854 C1970109 AROMATASE EXCESS SYNDROME SMDE04954 139300 C1970109 855 C0342686 Aromatic amino acid decarboxylase deficiency 856 C0232981 Arrest of spermatogenesis 857 C0349788 Arrhythmogenic Right Ventricular Dysplasia 858 C4016411 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1 859 C1862511 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder) 860 C1857777 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 SMDE02227 610193 C1857777 861 C1864850 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 SMDE05037 610476 C1864850|C4310824 862 C1969081 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 SMDE04907 611528 C1969081 863 C3810138 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 SMDE01233 615616 C3810138 864 C1832931 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 SMDE03300 600996 C1832931 865 C1858379 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder) 866 C1843896 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 SMDE04503 607450 C1843896 867 C1836906 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 SMDE03353 609040 C1836906 868 C0751851 Arsenic Encephalopathy 869 C0751852 Arsenic Induced Polyneuropathy 870 C0311375 Arsenic Poisoning 871 C0274861 Arsenic Poisoning, Inorganic 872 C1859727 Arterial calcification of infancy 873 C4551985 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 SMDE03414 208000 C1859728|C1859727 874 C3276161 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 SMDE04769 614473 C3276161 875 C0750987 Arterial Diseases, Common Carotid 876 C0015697 Arterial Fatty Streak 877 C1865267 Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly 878 C0003838 Arterial Occlusive Diseases dis_543 879 C1859726 ARTERIAL TORTUOSITY SYNDROME SMDE03638 208050 C3279191|C1859726 880 C0003850 Arteriosclerosis dis_546 881 C0600359 Arteriosclerotic Dementia 882 C0520557 Arteriovenous malformation of liver 883 C0917804 Arteriovenous Malformations, Cerebral 884 C0003860 Arteritis 885 C0003862 Arthralgia dis_549 886 C0003864 Arthritis dis_551 SMDE05233 DIS00075 887 C0003865 Arthritis, Adjuvant-Induced 888 C1692886 Arthritis, Bacterial 889 C0971858 Arthritis, Collagen-Induced 890 C0993582 Arthritis, Experimental 891 C0003868 Arthritis, Gouty 892 C0003869 Arthritis, Infectious 893 C0003872 Arthritis, Psoriatic 894 C3891815 Arthritis, Suppurative 895 C0003875 Arthritis, Viral 896 C0003886 Arthrogryposis 897 C0220666 ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 898 C1844934 Arthrogryposis multiplex congenita, distal, X-linked 899 C1859721 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder) 900 C4479539 ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC, WITH MYELIN DEFECT 901 C4748872 ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT 902 C0220662 ARTHROGRYPOSIS, DISTAL, TYPE 1 903 C3280526 ARTHROGRYPOSIS, DISTAL, TYPE 1B SMDE01723 614335 C3280526 904 C1834523 ARTHROGRYPOSIS, DISTAL, TYPE 2B SMDE00213 601680 C1834523 905 C4310692 ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH 906 C3809910 ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES SMDE03983 615553 C3809910 907 C3280309 ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY SMDE05017 614262 C3280309 908 C1859722 Arthrogryposis, renal dysfunction, and cholestasis 1 SMDE04872 208085 C1859722 909 C3150672 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 SMDE00400 613404 C3150672 910 C0022408 Arthropathy dis_553 911 C2713319 Arylsulfatase A Deficiency 912 C0003944 As If Personality 913 C0003949 Asbestosis 914 C0003962 Ascites dis_557 915 C0025290 Aseptic Meningitis dis_558 916 C0520474 Aseptic Necrosis of Bone 917 C0524595 Aseptic Necrosis of Femur Head 918 C3809971 ASPARAGINE SYNTHETASE DEFICIENCY SMDE00888 615574 C3809971 919 C2931840 Aspartylglucosamidase (AGA) deficiency 920 C0268225 Aspartylglucosaminuria dis_560 SMDE00882 921 C0236792 Asperger Syndrome 922 C1845341 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1 (disorder) 923 C1845334 ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) 924 C0004030 Aspergillosis 925 C0004044 Asphyxia 926 C0004045 Asphyxia Neonatorum 927 C4551856 Asphyxiating Thoracic Dystrophy 1 928 C1970005 Asphyxiating Thoracic Dystrophy 2 929 C0032290 Aspiration Pneumonia dis_562 930 C0175707 Asplenia Syndrome 931 C0232766 Asterixis 932 C0004093 Asthenia 933 C0403823 Asthenozoospermia 934 C0004096 Asthma dis_565 DIS00077 935 C1319853 Asthma, Aspirin-Induced dis_567 936 C1859648 Asthma, Nasal Polyps, And Aspirin Intolerance SMDE05106 208550 C1876174|C1858067|C1859648 937 C0264423 Asthma, Occupational 938 C1846534 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 939 C1837811 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 940 C1970224 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 941 C2677770 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 942 C0004114 Astrocytoma dis_571 943 C3887640 Astrocytosis dis_572 944 C0431406 Asymmetric crying face association 945 C0271674 Asymmetric Diabetic Proximal Motor Neuropathy 946 C0231221 Asymptomatic 947 C1720796 Asymptomatic Inflammatory Prostatitis 948 C0004134 Ataxia dis_576 949 C1838916 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 950 C0004135 Ataxia Telangiectasia 951 C0751597 Ataxia with Lactic Acidosis, Type I 952 C1848533 Ataxia with vitamin E deficiency SMDE04540 Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. C535393 277460 96 G11.1 C1848533 953 C0750937 Ataxia, Appendicular 954 C4015436 ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS SMDE02649 616192 C4015436 955 C1859598 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA SMDE03288 208920 C1859598 956 C0796028 ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION 957 C0278161 Ataxia, Motor 958 C0240991 Ataxia, Sensory 959 C1837015 ATAXIA, SENSORY, AUTOSOMAL DOMINANT 960 C1970107 ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT 961 C1969796 ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) 962 C1969645 Ataxia, Spastic, 3, Autosomal Recessive 963 C0087012 Ataxia, Spinocerebellar dis_577 964 C0427190 Ataxia, Truncal 965 C3554690 ATAXIA-OCULOMOTOR APRAXIA 3 SMDE03889 615217 C3554690 966 C4225397 ATAXIA-OCULOMOTOR APRAXIA 4 SMDE00832 616267 C4225397 967 C0004138 Ataxias, Hereditary 968 C1876175 Ataxia-Telangiectasia Variant 969 C1858391 ATAXIA-TELANGIECTASIA-LIKE DISORDER 970 C4014676 ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 SMDE02323 615919 C4014676 971 C4012790 Ataxia-Telangiectasisa-Like Disorder 1 972 C1850554 Atelosteogenesis type 2 973 C3668942 Atelosteogenesis Type 3 974 C0265283 Atelosteogenesis, type 1 975 C1832215 Athabaskan brainstem dysgenesis 976 C1865372 Athabaskan severe combined immunodeficiency 977 C1563937 Atherogenesis dis_578 978 C0264956 Atheroma 979 C0004153 Atherosclerosis dis_579 DIS00079 980 C0751415 Atherosclerotic Parkinsonism 981 C0270742 Athetoid cerebral palsy 982 C0796206 Atkin syndrome 983 C0751123 Atonic Absence Seizures 984 C0004238 Atrial Fibrillation dis_595 985 C1843687 ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 986 C3151464 ATRIAL FIBRILLATION, FAMILIAL, 10 SMDE04280 614022 C3151464 987 C3279693 ATRIAL FIBRILLATION, FAMILIAL, 11 SMDE01282 614049 C3279693 988 C3279695 ATRIAL FIBRILLATION, FAMILIAL, 12 SMDE02383 614050 C3279695 989 C3809311 ATRIAL FIBRILLATION, FAMILIAL, 13 SMDE01975 615377 C3809311 990 C3809312 ATRIAL FIBRILLATION, FAMILIAL, 14 SMDE03720 615378 C3809312 991 C4014269 ATRIAL FIBRILLATION, FAMILIAL, 15 SMDE03508 615770 C4014269 992 C4310636 ATRIAL FIBRILLATION, FAMILIAL, 18 993 C1837014 Atrial Fibrillation, Familial, 3 SMDE00933 607554 C1837014 994 C1862394 Atrial Fibrillation, Familial, 4 SMDE01000 611493 C1862394 995 C2677294 Atrial Fibrillation, Familial, 6 SMDE04152 612201 C2677294 996 C2677106 Atrial Fibrillation, Familial, 7 SMDE02475 612240 C2677106 997 C3151431 ATRIAL FIBRILLATION, FAMILIAL, 9 SMDE00134 613980 C3151431 998 C1850635 Atrial myxoma, familial 999 C1862389 ATRIAL SEPTAL DEFECT 1 1000 C1842778 Atrial septal defect 2 SMDE04388 607941 C1842778 1001 C3279790 Atrial Septal Defect 3 SMDE03262 614089 C3279790 1002 C1969657 Atrial Septal Defect 4 SMDE01637 611363 C1969657 1003 C2748552 Atrial Septal Defect 5 SMDE03331 612794 C2748552 1004 C2751315 Atrial Septal Defect 6 SMDE00407 613087 C2751315 1005 C3276096 ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS SMDE03689 108900 C3276096 1006 C3280790 ATRIAL SEPTAL DEFECT 8 SMDE00681 614433 C3280790 1007 C3280943 ATRIAL SEPTAL DEFECT 9 SMDE00153 614475 C3280943 1008 C0344730 Atrial Septal Defect Sinus Venosus 1009 C3502353 Atrial Septal Defect with Atrioventricular Conduction Defects 1010 C0018817 Atrial Septal Defects 1011 C0541782 Atrial standstill dis_598 1012 C4551959 ATRIAL STANDSTILL 1 SMDE04223 108770 C1838539 1013 C3810401 ATRIAL STANDSTILL 2 SMDE02261 615745 C3810401 1014 C1859592 ATRICHIA WITH PAPULAR LESIONS SMDE00438 209500 C1859592 1015 C0004245 Atrioventricular Block 1016 C1389016 ATRIOVENTRICULAR CANAL DEFECT 1017 C1389018 Atrioventricular Septal Defect 1018 C3275750 ATRIOVENTRICULAR SEPTAL DEFECT 3 SMDE04257 600309 C3275750 1019 C3280781 ATRIOVENTRICULAR SEPTAL DEFECT 4 SMDE03197 614430 C3280781 1020 C3280939 ATRIOVENTRICULAR SEPTAL DEFECT 5 SMDE05074 614474 C3280939 1021 C1853509 Atrioventricular Septal Defect, Partial, with Heterotaxy Syndrome 1022 C1853508 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 SMDE00598 606217 C1853509|C1853508 1023 C0333641 Atrophic 1024 C0263429 Atrophoderma vermiculatum 1025 C0752353 Atrophy, Muscular, Spinobulbar 1026 C0236964 Attention Deficit and Disruptive Behavior Disorders 1027 C0041671 Attention Deficit Disorder 1028 C1263846 Attention deficit hyperactivity disorder dis_603 1029 C2751802 ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 1030 C4304022 Attenuated Chédiak-Higashi syndrome SMDE01369 Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS (see this term), a genetic disorder characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. 352723 E70.3 1031 C1332347 Atypical Ductal Breast Hyperplasia 1032 C0349579 Atypical Endometrial Hyperplasia 1033 C2931788 Atypical Hemolytic Uremic Syndrome 1034 C0751776 Atypical Inclusion-Body Disease 1035 C4510873 Atypical juvenile parkinsonism SMDE02831 Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. 615528|615530 391411 G20 1036 C3266863 Atypical Mycobacteriosis, Familial 1037 C1970879 ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1 (disorder) 1038 C1970859 Atypical Mycobacteriosis, Familial, X-Linked 2 1039 C1266184 Atypical Teratoid Rhabdoid Tumor SMDE00348 Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children. 609322 99966 C49.9 1040 C4275075 Atypical Werner syndrome SMDE03188 Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. 79474 E34.8 1041 C1970281 Audiogram shows sloping configuration 1042 C0750942 Auditory Inattention 1043 C1852271 Auditory neuropathy 1044 C4521678 AUDITORY NEUROPATHY AND OPTIC ATROPHY 1045 C2732267 Auditory neuropathy spectrum disorder 1046 C1836743 AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 SMDE00170 609129 C1836743 1047 C1832830 Auditory Neuropathy, Nonsyndromic Recessive 1048 C0004310 Auditory Perceptual Disorders 1049 C0751257 Auditory Processing Disorder, Central 1050 C4225274 AU-KLINE SYNDROME SMDE00835 616580 C4225274 1051 C0236018 Aura 1052 C1842937 AURAL ATRESIA, CONGENITAL SMDE00403 607842 C1842937 1053 C1865295 Auriculo-condylar syndrome 1054 C4551996 Auriculocondylar syndrome 1 SMDE04089 602483 C1865295 1055 C3553404 AURICULOCONDYLAR SYNDROME 2 SMDE03877 614669 C3553404 1056 C3810332 AURICULOCONDYLAR SYNDROME 3 SMDE04046 615706 C3810332 1057 C0004331 Auriculo-Ventricular Dissociation 1058 C1510586 Autism Spectrum Disorders dis_613 1059 C3552491 AUTISM, SUSCEPTIBILITY TO, 14A 1060 C2677504 AUTISM, SUSCEPTIBILITY TO, 15 1061 C3150677 AUTISM, SUSCEPTIBILITY TO, 16 1062 C3150693 AUTISM, SUSCEPTIBILITY TO, 17 1063 C3554373 AUTISM, SUSCEPTIBILITY TO, 18 1064 C0795888 AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 1065 C3275438 AUTISM, SUSCEPTIBILITY TO, X-LINKED 5 1066 C3550875 AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 1067 C1845540 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding) 1068 C1845539 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 2 (finding) 1069 C0856975 Autistic behavior dis_614 1070 C0004352 Autistic Disorder dis_615 1071 C1846135 Autistic features 1072 C0241910 Autoimmune Chronic Hepatitis 1073 C4014795 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 SMDE01415 615952 C4014795 1074 C4310768 AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 1075 C3150649 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM SMDE01816 613385 C3150649 1076 C1842979 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 1077 C3150797 AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 1078 C0004364 Autoimmune Diseases dis_617 DIS00088 1079 C0751871 Autoimmune Diseases of the Nervous System 1080 C0002880 Autoimmune hemolytic anemia dis_619 1081 C4225334 AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE 1082 C1328840 Autoimmune Lymphoproliferative Syndrome SMDE01165 601859 C1328840|C1866119|C1866120|C1866121 1083 C2717884 Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 1084 C1846545 Autoimmune Lymphoproliferative Syndrome Type 2B 1085 C1858968 Autoimmune Lymphoproliferative Syndrome, Type IIA SMDE00031 603909 C1858968 1086 C3809928 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III SMDE01073 615559 C3809928 1087 C3494489 Autoimmune polyendocrinopathy syndrome, type 1 1088 C1855869 Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant 1089 C2749602 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, WITH REVERSIBLE METAPHYSEAL DYSPLASIA 1090 C0004368 Autoimmune state 1091 C0085860 Autoimmune Syndrome Type II, Polyglandular 1092 C0920350 Autoimmune thyroiditis 1093 C4479278 AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS 1094 C4015067 AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS SMDE03571 616050 C4015067 1095 C3553961 AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED SMDE01718 614878 C3553961 1096 C3860213 Autoinflammatory disorder 1097 C4225218 AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE SMDE01047 616744 C4225218 1098 C1145628 Autonomic nervous system disorders 1099 C0969687 Autosomal Chromosome Disorders 1100 C4302669 Autosomal dominant beta2-microglobulinic amyloidosis 1101 C4707173 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 1102 C0410190 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 1103 C0752200 Autosomal Dominant Familial Dystonia 1104 C4080064 Autosomal Dominant Hereditary Pancreatitis 1105 C4274081 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency SMDE03241 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism, see this term). 601820 276580 E16.1 1106 C4274080 Autosomal dominant hyperinsulinism due to SUR1 deficiency SMDE00697 Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism, see this term). 256450 276575 E16.1 1107 C4048195 Autosomal dominant hypocalcemia SMDE02926 Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. 601198|615361 428 E20.8 1108 C0265331 Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) 1109 C0342642 Autosomal dominant hypophosphatemic rickets SMDE03709 Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. 193100 89937 E83.3 C0342642|C1704375 1110 C1274214 Autosomal dominant ichthyosis 1111 C4755257 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 1112 C0752097 Autosomal Dominant Juvenile Parkinson Disease 1113 C1838062 Autosomal Dominant Lateral Temporal Lobe Epilepsy 1114 C4304021 Autosomal dominant macrothrombocytopenia 1115 C3661489 Autosomal Dominant Myotubular Myopathy 1116 C4721549 Autosomal dominant neovascular inflammatory vitreoretinopathy 1117 C3696898 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 1118 C0752098 Autosomal Dominant Parkinsonism 1119 C4274761 Autosomal dominant spondylocostal dysostosis SMDE01461 Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. 122600 1797 Q76.4 1120 C3888099 Autosomal dominant vitreoretinochoroidopathy 1121 C3494186 Autosomal Hemophilia A 1122 C3645536 Autosomal Recessive Centronuclear Myopathy 1123 C3683483 Autosomal Recessive Cerebellar Ataxia Type 1 1124 C4706412 Autosomal recessive cerebellar ataxia with late-onset spasticity 1125 C4755252 Autosomal recessive cerebral atrophy 1126 C3661525 Autosomal Recessive Chronic Granulomatous Disease 1127 C1450051 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 1128 C1856871 Autosomal recessive facio-digito-genital syndrome 1129 C0752201 Autosomal Recessive Familial Dystonia 1130 C0751603 Autosomal Recessive Hereditary Spastic Paraplegia 1131 C0342643 Autosomal recessive hypophosphatemic vitamin D refractory rickets 1132 C4517996 Autosomal recessive limb girdle muscular dystrophy type 2S 1133 C4707155 Autosomal recessive myogenic arthrogryposis multiplex congenita 1134 C0752100 Autosomal Recessive Parkinsonism 1135 C0085548 Autosomal Recessive Polycystic Kidney Disease SMDE00280 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. D017044 617610 731 Q61.1 C0085548 1136 C3711387 Autosomal Recessive Primary Microcephaly SMDE03396 Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. 614852|603802|604321|617090|616486|604317|615414|604804 2512 C37 1137 C4274077 Autosomal recessive sideroblastic anemia 1138 C4750857 Autosomal recessive spastic paraplegia type 59 1139 C4707829 Autosomal recessive spastic paraplegia type 67 1140 C4749431 Autosomal recessive spastic paraplegia type 70 1141 C0004403 Autosome Abnormalities 1142 C0027543 Avascular necrosis of bone 1143 C4551562 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 1144 C4479260 AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 1145 C0410480 Avascular Necrosis of Femur Head 1146 C1275685 Avellino corneal dystrophy 1147 C0004444 Avoidant Personality Disorder 1148 C0751111 Awakening Epilepsy 1149 C0266548 Axenfeld anomaly (disorder) 1150 C1280768 Axenfeld syndrome 1151 C3495488 Axenfeld-Rieger syndrome SMDE00358 Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. C535679 180500|601499|602482 782 Q13.8 C3495488|C0265341 1152 C3714873 Axenfeld-Rieger Syndrome, Type 1 SMDE00837 180500 C3714873 1153 C2678503 AXENFELD-RIEGER SYNDROME, TYPE 3 SMDE02763 602482 C2678503 1154 C1844836 Ayazi syndrome 1155 C0004509 Azoospermia dis_633 1156 C1847540 Azoospermia, Nonobstructive 1157 C0242528 Azotemia dis_634 1158 C0037140 B Virus Infection 1159 C0004604 Back Pain dis_645 1160 C0740363 Back Pain with Radiation 1161 C0438921 Back Pain without Radiation 1162 C0004610 Bacteremia 1163 C0004623 Bacterial Infections dis_647 DIS00093 1164 C0004681 Bagassosis 1165 C3809650 BAINBRIDGE-ROPERS SYNDROME SMDE01879 615485 C3809650 1166 C4748715 BAKER-GORDON SYNDROME 1167 C0004698 Balkan Nephropathy 1168 C0265308 Baller-Gerold syndrome SMDE01292 Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). C536788 218600 1225 Q75.0 C0265308 1169 C0752196 Ballismus 1170 C0004712 Balo's Concentric Sclerosis 1171 C1855794 Bamforth syndrome 1172 C4284594 BAND HETEROTOPIA SMDE02930 600348 C4284594 1173 C1838239 Band Heterotopia of Brain 1174 C0265326 Bannayan-Riley-Ruvalcaba Syndrome SMDE03876 Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. 153480 109 Q87.8 C0265326 1175 C2931662 Baraitser Brett Piesowicz syndrome 1176 C3281235 BARAITSER-WINTER SYNDROME 2 SMDE00066 614583 C3281235 1177 C1840333 Barakat syndrome 1178 C1319466 Barber Say syndrome 1179 C0752166 Bardet-Biedl Syndrome SMDE02816 Bardet-Biedl syndrome (BBS) is a ciliopathy with multisystem involvement. D020788 600151|615996|615993|6|617406|615986|615988|615991|615984 110 1180 C2936862 Bardet-Biedl syndrome 1 (disorder) 1181 C1859568 BARDET-BIEDL SYNDROME 10 SMDE02401 615987 C1859568 1182 C1859569 BARDET-BIEDL SYNDROME 11 SMDE01202 615988 C1859569 1183 C1859570 BARDET-BIEDL SYNDROME 12 SMDE02039 615989 C1859570 1184 C2673873 BARDET-BIEDL SYNDROME 13 SMDE01328 615990 C2673873 1185 C2673874 BARDET-BIEDL SYNDROME 14 (disorder) 1186 C3150127 BARDET-BIEDL SYNDROME 15 1187 C3889474 BARDET-BIEDL SYNDROME 16 SMDE04180 615993 C3889474 1188 C3714980 BARDET-BIEDL SYNDROME 17 SMDE01881 615994 C3714980 1189 C3806174 BARDET-BIEDL SYNDROME 18 SMDE03928 615995 C3806174 1190 C3889475 BARDET-BIEDL SYNDROME 19 SMDE01486 615996 C3889475 1191 C2936863 Bardet-Biedl syndrome 2 (disorder) 1192 C4310707 BARDET-BIEDL SYNDROME 20 1193 C4319932 BARDET-BIEDL SYNDROME 21 1194 C1859564 Bardet-Biedl syndrome 3 SMDE04169 600151 C1859564 1195 C2936864 Bardet-Biedl syndrome 4 (disorder) 1196 C3892039 BARDET-BIEDL SYNDROME 5 SMDE03232 615983 C3892039 1197 C1858054 BARDET-BIEDL SYNDROME 6 SMDE02003 605231 C1858054 1198 C1859565 BARDET-BIEDL SYNDROME 7 SMDE01941 615984 C1859565 1199 C1859566 BARDET-BIEDL SYNDROME 8 SMDE02356 615985 C1859566 1200 C1859567 BARDET-BIEDL SYNDROME 9 SMDE00653 615986 C1859567 1201 C0242583 Bare Lymphocyte Syndrome 1202 C2931418 Bare lymphocyte syndrome 2 1203 C1858266 Bare Lymphocyte Syndrome, Type I SMDE00380 604571 C1858266 1204 C1859534 Bare Lymphocyte Syndrome, Type II, Complementation Group A 1205 C1859536 Bare Lymphocyte Syndrome, Type II, Complementation Group C 1206 C1859537 Bare Lymphocyte Syndrome, Type II, Complementation Group D 1207 C1859538 Bare Lymphocyte Syndrome, Type II, Complementation Group E 1208 C1258085 Barrett Epithelium 1209 C0004763 Barrett Esophagus dis_650 SMDE03322 1210 C0004775 Bartter Disease dis_651 1211 C1855849 Bartter syndrome, antenatal , type 2 1212 C1866495 Bartter syndrome, antenatal type 1 1213 C1846343 Bartter syndrome, type 3 SMDE04860 607364 C1846343|C1846344 1214 C1865270 BARTTER SYNDROME, TYPE 4A 1215 C2751312 BARTTER SYNDROME, TYPE 4B 1216 C4310805 BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS SMDE00957 613090 C4310805 1217 C4310820 BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT SMDE02505 300971 C4310820 1218 C0007117 Basal cell carcinoma dis_652 DIS00094 1219 C3838465 BASAL CELL CARCINOMA, SOMATIC 1220 C2751544 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 SMDE04358 605462 C2751544|C1854245|C2751545 1221 C3553606 BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 1222 C0004779 Basal Cell Nevus Syndrome SMDE05114 109400 C0004779 1223 C3554321 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 SMDE05079 615007 C3554321 1224 C3809645 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 SMDE04060 615483 C3809645 1225 C4225335 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 SMDE02677 616413 C4225335 1226 C1843807 Basal ganglia disease, biotin-responsive 1227 C0004782 Basal Ganglia Diseases dis_655 1228 C0730295 BASAL LAMINAR DRUSEN (disorder) 1229 C0406707 Basan syndrome 1230 C2931577 Basaran Yilmaz syndrome 1231 C4225323 BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME SMDE05040 616449 C4225323 1232 C4511230 Bathing suit ichthyosis SMDE01482 Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body. 242300 100976 Q80.2 1233 C4551967 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY SMDE01742 616452 C1847973 1234 C0079731 B-Cell Lymphomas 1235 C1868683 B-CELL MALIGNANCY, LOW-GRADE 1236 C0751360 Becker Generalized Myotonia 1237 C0917713 Becker Muscular Dystrophy SMDE04335 Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. C537666 300376|159050 98895 G71.0 C0917713 1238 C1858042 Becker Nevus Syndrome 1239 C0004903 Beckwith-Wiedemann Syndrome SMDE00898 130650 C0004903|C1851719 1240 C0004930 Behavior Disorders 1241 C0278076 Behavioral tic 1242 C4011788 Behavioral variant of frontotemporal dementia SMDE01402 Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. 600274|600795|616437 275864 G31.0 1243 C0004943 Behcet Syndrome 1244 C0221061 Behr syndrome SMDE02826 210000 1239 C0221061 1245 C2930898 Benign essential blepharospasm 1246 C4749273 Benign familial mesial temporal lobe epilepsy 1247 C0270847 Benign Focal Epilepsy, Childhood 1248 C0393584 Benign Hereditary Chorea SMDE02072 118700|215450 1429 G25.5 C1859098|C0393584 1249 C0751120 Benign Infantile Myoclonic Epilepsy 1250 C0281784 Benign Meningioma 1251 C0270851 Benign neonatal epilepsy 1252 C0393693 Benign Neonatal Epilepsy, Nonfamilial 1253 C0086692 Benign Neoplasm 1254 C0154017 Benign neoplasm of bladder 1255 C0496899 Benign neoplasm of brain, unspecified 1256 C0153942 Benign neoplasm of esophagus 1257 C0153943 Benign neoplasm of stomach 1258 C0154007 Benign neoplasm of testis 1259 C1851549 Benign Occipital Epilepsy 1260 C3494934 Benign paroxysmal torticollis of infancy 1261 C1704272 Benign Prostatic Hyperplasia dis_661 DIS00099 1262 C0005001 Benign prostatic hypertrophy 1263 C2363129 Benign Rolandic Epilepsy 1264 C4749502 Benign Samaritan congenital myopathy 1265 C0751588 Benign Supratentorial Neoplasms 1266 C0347284 Benign tumor of pancreas 1267 C3281247 BENT BONE DYSPLASIA SYNDROME SMDE00901 614592 C3281247 1268 C0005129 Bernard-Soulier Syndrome SMDE01834 231200 C3278148|C0005129|C1856447|C2713537|C1856448 1269 C3277076 BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT SMDE02031 153670 C3277076 1270 C1856448 Bernard-Soulier Syndrome, Type C 1271 C0005136 Berry Aneurysm 1272 C0005138 Berylliosis 1273 C2350873 Beryllium Disease 1274 C3888198 BESTROPHINOPATHY, AUTOSOMAL RECESSIVE SMDE01661 611809 C3888198 1275 C0005283 beta Thalassemia dis_664 1276 C0472767 Beta thalassemia intermedia 1277 C1858990 Beta Thalassemia, Dominant Inclusion Body Type 1278 C2718068 beta-Galactosidase Deficiency 1279 C0342738 Beta-Hydroxyisobutyryl CoA Deacylase Deficiency 1280 C4048196 beta-Mannosidosis SMDE01313 Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. D044905 248510 118 E77.1 C2931893|C0342849 1281 C1291512 Beta-Ureidopropionase Deficiency SMDE01555 613161 C1291512 1282 C1834674 BETHLEM MYOPATHY 1 SMDE02781 158810 C1834674 1283 C4225313 BETHLEM MYOPATHY 2 SMDE03176 616471 C4225313 1284 C0149630 Bicuspid aortic valve 1285 C1859486 BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY SMDE03469 210370 C1859486 1286 C0221363 Bifid nose 1287 C2750433 Bifid Nose With Or Without Anorectal And Renal Anomalies SMDE01931 608980 C2750433 1288 C2751431 Bifid Nose, Autosomal Dominant 1289 C3887497 Bifid Nose, Autosomal Recessive 1290 C0342870 Bifunctional peroxisomal enzyme deficiency 1291 C0431663 Bilateral Cryptorchidism 1292 C3665473 Bilateral Deafness 1293 C0423623 Bilateral Headache 1294 C1567427 Bilateral Multicystic Dysplastic Kidneys 1295 C2350171 Bilateral Nasal Obstruction 1296 C4551969 Bilateral Periventricular Nodular Heterotopia 1297 C0431692 Bilateral renal hypoplasia 1298 C4255193 Bilateral Vestibulopathy 1299 C2930471 Bilateral Wilms Tumor 1300 C4274079 Bile acid CoA ligase deficiency and defective amidation 1301 C2750087 Bile Acid Malabsorption, Primary SMDE02546 613291 C2750087 1302 C1843116 Bile acid synthesis defect, congenital, 1 SMDE03756 607765 C1843116 1303 C1856127 Bile acid synthesis defect, congenital, 2 SMDE02118 235555 C1856127 1304 C3151147 Bile Acid Synthesis Defect, Congenital, 3 SMDE01605 613812 C3151147 1305 C1858328 Bile acid synthesis defect, congenital, 4 SMDE02280 214950 C1858328 1306 C4225390 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 SMDE01970 616278 C4225390 1307 C4310624 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 1308 C0740277 Bile duct carcinoma 1309 C0005395 Bile Duct Diseases 1310 C0005396 Bile Duct Neoplasms 1311 C0005411 Biliary Atresia 1312 C4274029 Biliary atresia with splenic malformation syndrome 1313 C0242216 Biliary calculi 1314 C0023892 Biliary cirrhosis dis_672 1315 C4551595 Biliary Cirrhosis, Primary, 1 1316 C0750952 Biliary Tract Cancer 1317 C0005426 Biliary Tract Neoplasm dis_674 1318 C0556346 Binge Drinking 1319 C0596170 Binge eating disorder 1320 C0270786 Binswanger Disease 1321 C1150715 biotin-[acetyl-CoA-carboxylase] ligase activity 1322 C0220754 Biotinidase Deficiency SMDE02958 Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. D028921 253260 79241 E53.8 C1854698|C0220754 1323 C0751780 Biotin-Responsive Encephalopathy 1324 C0005586 Bipolar Disorder dis_677 DIS00101 1325 C0853193 Bipolar I disorder 1326 C0236788 Bipolar II disorder 1327 C3150657 BIRBECK GRANULE DEFICIENCY 1328 C1853959 Birdshot chorioretinopathy SMDE00150 Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. C537630 605808 179 H30.1 C1853959 1329 C2676770 Birk-Barel Mental Retardation Dysmorphism Syndrome SMDE02520 612292 C2676770 1330 C4539828 BIRK-LANDAU-PEREZ SYNDROME 1331 C0005612 Birth Weight 1332 C0005689 Bladder Exstrophy dis_682 SMDE01916 1333 C0005694 Bladder neck obstruction 1334 C0005695 Bladder Neoplasm dis_683 1335 C0005699 Blast Phase 1336 C0012684 Blastocyst Disintegration 1337 C3501679 Bleeding Disorder due to Defective Thromboxane A2 Receptor 1338 C1853278 Bleeding Disorder Due To P2RY12 Defect 1339 C1853831 Bleeding Disorder, East Texas Type 1340 C3279614 BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO 1341 C3554663 BLEEDING DISORDER, PLATELET-TYPE, 15 SMDE00221 615193 C3554663 1342 C4014584 BLEEDING DISORDER, PLATELET-TYPE, 18 SMDE04572 615888 C4014584 1343 C4015405 BLEEDING DISORDER, PLATELET-TYPE, 19 SMDE03455 616176 C4015405 1344 C4310797 BLEEDING DISORDER, PLATELET-TYPE, 20 1345 C4479515 BLEEDING DISORDER, PLATELET-TYPE, 21 1346 C1458140 Bleeding tendency 1347 C1861536 Blepharo-cheilo-dontic syndrome 1348 C4551988 BLEPHAROCHEILODONTIC SYNDROME 1 1349 C0796094 Blepharophimosis syndrome Ohdo type 1350 C2931135 Blepharophimosis syndrome type 1 1351 C0220663 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 1352 C3714208 Blepharophimosis, Ptosis, and Epicanthus Inversus Type II 1353 C0005745 Blepharoptosis 1354 C0005747 Blepharospasm dis_686 DIS00104 1355 C4692845 BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO 1356 C0456909 Blindness 1357 C1879328 Blindness both eyes NOS (disorder) 1358 C0339730 Blindness, Acquired 1359 C0221473 Blindness, Hysterical 1360 C0271215 Blindness, Legal 1361 C0750958 Blindness, Monocular 1362 C0155003 Blindness, Transient 1363 C0021171 Bloch Sulzberger syndrome 1364 C0005779 Blood Coagulation Disorders 1365 C0852077 Blood Coagulation Disorders, Inherited 1366 C0398568 Blood group deletion syndrome 1367 C1832168 BLOOD GROUP--FROESE 1368 C1862191 BLOOD GROUP--WALDNER TYPE 1369 C1862190 BLOOD GROUP--WRIGHT ANTIGEN 1370 C0005818 Blood Platelet Disorders 1371 C0005859 Bloom Syndrome SMDE04055 Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. D001816 210900 125 Q82.2 C0005859 1372 C0346072 Blue rubber bleb nevus syndrome 1373 C3714239 Bmpr1a-Related Juvenile Polyposis 1374 C1841982 BODY COMPOSITION, BENEFICIAL 1375 C2675659 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 1376 C2676498 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12 (disorder) 1377 C2675914 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 14 1378 C3150702 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 16 1379 C3714940 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 18 1380 C1843898 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (disorder) 1381 C2677162 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9 1382 C0005899 Body Rocking 1383 C0005910 Body Weight 1384 C0796232 Bohring syndrome 1385 C0005940 Bone Diseases 1386 C0005941 Bone Diseases, Developmental 1387 C0005942 Bone Diseases, Endocrine 1388 C2676285 Bone Fragility with Contractures, Arterial Rupture, and Deafness SMDE01811 612394 C2676285 1389 C0005956 Bone Marrow Diseases 1390 C3808553 Bone marrow failure syndrome 1 SMDE03743 614675 C3808553 1391 C3810350 Bone marrow failure syndrome 2 SMDE04521 615715 C3810350 1392 C4310744 BONE MARROW FAILURE SYNDROME 3 1393 C4748257 BONE MARROW FAILURE SYNDROME 4 1394 C4748488 BONE MARROW FAILURE SYNDROME 5 1395 C2931245 Bone Marrow failure syndromes 1396 C1855710 Bone marrow hypocellularity dis_699 1397 C0238801 Bone marrow megaloblastic (finding) 1398 C0282609 Bone Marrow Neoplasms 1399 C1866079 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 1400 C2675513 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12 1401 C3150680 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 1402 C3714945 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16 1403 C3714987 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17 1404 C3806712 BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 18 SMDE04663 300910 C3806712 1405 C0029445 Bone necrosis 1406 C0005967 Bone neoplasms 1407 C0005974 Bone Resorption dis_703 1408 C1527168 Bonnevie-Ullrich Syndrome 1409 C0432201 Boomerang dysplasia SMDE05169 Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. C536573 112310 1263 Q87.1 C0432201 1410 C0265339 Borjeson-Forssman-Lehmann syndrome SMDE01927 Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. C536575 301900 127 Q87.8 C0265339 1411 C3159311 BORNHOLM EYE DISEASE 1412 C1832216 Bosley-Salih-Alorainy Syndrome 1413 C1843816 Bothnia Retinal Dystrophy SMDE05030 607475 C1843816 1414 C1859405 Bowen-Conradi syndrome SMDE00382 Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. C537081 211180 1270 Q87.8 C1859405 1415 C0006079 Bowen's Disease 1416 C1862264 Bpes With Duane Retraction Syndrome 1417 C1862262 Bpes With Ovarian Failure 1418 C1862263 Bpes Without Ovarian Failure 1419 C1970106 Bpes, Type I, Autosomal Recessive 1420 C0085920 Brachial Neuralgia 1421 C0221759 Brachial Plexus Neuritis 1422 C0221356 Brachycephaly dis_710 1423 C4479431 BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY 1424 C0221357 Brachydactyly 1425 C1300267 Brachydactyly syndrome type B 1426 C1300268 Brachydactyly syndrome type C 1427 C0265312 Brachydactyly syndrome type E 1428 C1862103 Brachydactyly type C SMDE01300 Brachydactyly type C (BDC) is a very rare congenital malformation characterized by brachymesophalangy of the index, middle and little fingers, with hyperphalangy of the index and middle finger and shortening of the 1st metacarpal. Only few families with BDC have been reported in the literature. The ring finger is usually the longest digit. Short metacarpals and symphalangism are occasionally present. Heterozygous mutations in the cartilage-derived morphogenetic protein 1, also known as growth/differentiation factor-5 gene (GDF5), have been reported in BDC patients. Many studies support an autosomal dominant mode of inheritance. C537093 113100 93384 Q73.8 C1862103|C1300268 1429 C1862170 Brachydactyly with hypertension 1430 C1862151 BRACHYDACTYLY, TYPE A1 (disorder) 1431 C3554446 BRACHYDACTYLY, TYPE A1, C SMDE02294 615072 C3554446 1432 C4225183 BRACHYDACTYLY, TYPE A1, D SMDE01403 616849 C4225183 1433 C1832702 BRACHYDACTYLY, TYPE A2 SMDE02271 112600 C1832702 1434 C1862112 BRACHYDACTYLY, TYPE B1 SMDE01266 113000 C1862112 1435 C1969652 BRACHYDACTYLY, TYPE B2 (disorder) 1436 C0220664 BRACHYDACTYLY, TYPE D SMDE02230 113200 C0220664 1437 C1862102 BRACHYDACTYLY, TYPE E1 SMDE01561 113300 C1862102 1438 C3150644 BRACHYDACTYLY, TYPE E2 SMDE00112 613382 C3150644 1439 C1853137 BRACHYDACTYLY-SYNDACTYLY SYNDROME SMDE02247 610713 C1853137|C4310807 1440 C4310807 BRACHYDACTYLY-SYNDACTYLY-OLIGODACTYLY SYNDROME 1441 C0432228 Brachyolmia 1442 C0432227 Brachyolmia Type 3 SMDE00146 113500 C0432227 1443 C1844853 Brachytelephalangic Chondrodysplasia Punctata 1444 C0428977 Bradycardia dis_711 1445 C0233565 Bradykinesia dis_712 1446 C0751003 Brain Aneurysm 1447 C3502469 Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia 1448 C3150910 Brain calcification Rajab type 1449 C0006111 Brain Diseases 1450 C0006112 Brain Diseases, Metabolic 1451 C0751744 Brain Diseases, Metabolic, Acquired 1452 C0752109 Brain Diseases, Metabolic, Inborn 1453 C0752107 Brain Diseases, Metabolic, Inherited 1454 C1527311 Brain Edema 1455 C0936247 Brain Embolism and Thrombosis 1456 C0553692 Brain hemorrhage 1457 C1527348 Brain Hypoxia 1458 C0751955 Brain Infarction 1459 C0751953 Brain Infarction, Posterior Circulation 1460 C0007786 Brain Ischemia dis_721 DIS00114 1461 C4478940 BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS 1462 C0006118 Brain Neoplasms 1463 C2675650 Brain Small Vessel Disease With Axenfeld-Rieger Anomaly 1464 C1843512 BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE 1465 C4013035 BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES dis_723 SMDE05006 1466 C0751022 Brain Stem Ischemia, Transient 1467 C0677866 Brain Stem Neoplasms 1468 C0751886 Brain Stem Neoplasms, Primary 1469 C0752144 Brain Thrombosis 1470 C0936261 Brain Thrombus 1471 C0750974 Brain Tumor, Primary 1472 C1855677 Brainstem dysplasia dis_725 1473 C3554078 BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY SMDE02133 614923 C3554078 1474 C0376524 Branchio-Oculo-Facial Syndrome SMDE02029 Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. 113620 1297 Q18.8 C0376524 1475 C4273131 Branchiootic syndrome SMDE04589 Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). 608389|602588|120502 52429 Q87.0 1476 C1865143 BRANCHIOOTIC SYNDROME 1 SMDE01646 602588 C1865143|C3551443 1477 C1842124 BRANCHIOOTIC SYNDROME 3 (disorder) 1478 C0265234 Branchio-Oto-Renal Syndrome 1479 C4551702 Branchiootorenal Syndrome 1 SMDE01727 113650 C0265234 1480 C1970479 Branchiootorenal Syndrome 2 SMDE00916 610896 C1970479 1481 C0809936 Branchio-skeleto-genital syndrome 1482 C0858252 Breast adenocarcinoma 1483 C0346153 Breast Cancer, Familial 1484 C2676677 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 1485 C2675521 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 1486 C0678222 Breast Carcinoma 1487 C0006145 Breast Diseases 1488 C0242788 Breast Neoplasms, Male 1489 C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 1490 C2675520 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 1491 C3150659 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 1492 C3280345 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 1493 C4014918 BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 SMDE02766 616001 C4014918 1494 C1704377 Bright Disease 1495 C3280011 BRITTLE CORNEA SYNDROME 2 SMDE02110 614170 C3280011 1496 C0342302 Brittle diabetes 1497 C0263490 Brittle hair dis_728 1498 C1832918 Brody myopathy SMDE04789 601003 C1832918 1499 C0006261 Bronchial Diseases 1500 C0085129 Bronchial Hyperreactivity 1501 C0006267 Bronchiectasis dis_732 1502 C2749757 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 SMDE01068 211400 C2749757 1503 C2751666 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 SMDE03326 613021 C2751666 1504 C2751324 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3 SMDE04260 613071 C2751324 1505 C0006272 Bronchiolitis Obliterans dis_735 1506 C2350876 Bronchiolitis, Exudative 1507 C2350988 Bronchiolitis, Proliferative 1508 C0007120 Bronchioloalveolar Adenocarcinoma 1509 C0008677 Bronchitis, Chronic 1510 C0006287 Bronchopulmonary Dysplasia 1511 C1857941 Brooke-Spiegler syndrome SMDE05081 605041 C1857941 1512 C0268497 Brown oculocutaneous albinism 1513 C0796274 Brown-Vialetto-Van Laere Syndrome 1 SMDE03578 211530 C0796274 1514 C3553538 BROWN-VIALETTO-VAN LAERE SYNDROME 2 SMDE01733 614707 C3553538 1515 C0006309 Brucellosis 1516 C2231324 Brucellosis, Pulmonary 1517 C0432253 Bruck syndrome SMDE00655 Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. 609220|259450 2771 M21.8 C1850168|C0432253|C1836602 1518 C1850168 Bruck syndrome 1 SMDE02544 259450 C1859709|C1850168 1519 C1836602 Bruck syndrome 2 SMDE03394 609220 C1836602 1520 C1721096 Brugada ECG Pattern 1521 C1142166 Brugada Syndrome (disorder) 1522 C4551804 Brugada Syndrome 1 SMDE03965 601144 C2748542|C1142166 1523 C2673193 Brugada Syndrome 2 SMDE04133 611777 C2673193 1524 C2678478 Brugada Syndrome 3 SMDE04291 611875 C2678478 1525 C2678477 Brugada Syndrome 4 SMDE02365 611876 C2678477 1526 C2748541 Brugada Syndrome 5 SMDE04811 612838 C2748542|C2748541 1527 C2751089 Brugada Syndrome 6 SMDE05188 613119 C2751089 1528 C2751088 Brugada Syndrome 7 SMDE01664 613120 C4013699|C2751088 1529 C2751083 Brugada Syndrome 8 SMDE03371 613123 C2751083 1530 C4225340 BRUGADA SYNDROME 9 SMDE00794 616399 C4225340 1531 C0796275 Brunner Syndrome SMDE00616 300615 C4310831|C0796275 1532 C0856761 Budd-Chiari Syndrome dis_743 SMDE00366 1533 C4082299 Bulbar palsy dis_744 1534 C0751468 Bulbocavernosus Reflex, Decreased 1535 C0751469 Bulbocavernousus Reflex Absent 1536 C1839259 Bulbo-Spinal Atrophy, X-Linked 1537 C0393547 Bulbospinal Neuronopathy 1538 C2931395 Bulbospinal neuronopathy, X-linked recessive 1539 C0240543 Bulbous nose 1540 C0005758 Bulla 1541 C0030805 Bullous pemphigoid SMDE03584 Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis. D010391 703 L12.0 C0030805 1542 C0339512 Bull's eye macular dystrophy 1543 C0006384 Bundle-Branch Block 1544 C4721444 Burkitt Leukemia 1545 C0006413 Burkitt Lymphoma dis_747 SMDE01688 1546 C0263428 Burnett Schwartz Berberian syndrome 1547 C1837822 Burn-Mckeown syndrome SMDE02075 608572 C1835913|C1837822 1548 C0085568 Buruli Ulcer 1549 C4511237 Butterfly-shaped pigmentary macular dystrophy 1550 C1283400 Butyrylcholinesterase deficiency 1551 C3150902 C1q DEFICIENCY SMDE04216 613652 C3150902 1552 C4087273 C3 glomerulopathy 1553 C3151189 C9 Deficiency 1554 C0006625 Cachexia dis_752 DIS00127 1555 C3888024 Cacosmia 1556 C0751587 CADASIL Syndrome 1557 C1449626 CADASILM 1558 C0006635 Cadmium poisoning 1559 C0553586 Cafe-au-lait macules with pulmonary stenosis 1560 C0221263 Cafe-au-Lait Spots 1561 C1968949 Cakut 1562 C1859372 Calcification of Joints and Arteries SMDE04492 211800 C1859372 1563 C0006663 Calcinosis dis_760 1564 C0856830 Calcium pyrophosphate arthropathy 1565 C0553730 Calcium pyrophosphate deposition disease 1566 C0242217 Calcium Pyrophosphate Dihydrate Deposition 1567 C0162677 Caliciviridae Infections 1568 C1859312 CAMFAK syndrome 1569 C1861922 CAMPOMELIC DYSPLASIA SMDE03546 Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). D055036 114290|211990|602196 140 Q87.1 C1861922|C3549544|C1861923|C1842462 1570 C1859690 CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME SMDE03824 208250 C1859690 1571 C1843758 Camptosynpolydactyly, Complex 1572 C0011989 Camurati-Engelmann Syndrome 1573 C0206307 Canavan Disease SMDE02811 271900 C0206307 1574 C0751663 Canavan Disease, Familial Form 1575 C0751666 Canavan Disease, Infantile 1576 C0751667 Canavan Disease, Juvenile 1577 C0751664 Canavan Disease, Neonatal 1578 C0751665 Canavan Disease, Sporadic Form 1579 C0751075 Cancer of Digestive System 1580 C0751177 Cancer of Head 1581 C0238301 Cancer of Nasopharynx 1582 C0746787 Cancer of Neck 1583 C0751394 Cancer of Nose 1584 C0751571 Cancer of Urinary Tract 1585 C0751364 Cancer, Embryonal 1586 C0751365 Cancer, Embryonal and Mixed 1587 C0751589 Cancer, Supratentorial 1588 C0343863 Candida infection of genital region 1589 C0006840 Candidiasis 1590 C0006852 Candidiasis of vagina 1591 C0006845 Candidiasis, Chronic Mucocutaneous 1592 C1859353 Candidiasis, Familial, 2 SMDE02614 212050 C1859353 1593 C3151402 CANDIDIASIS, FAMILIAL, 5 1594 C3151405 CANDIDIASIS, FAMILIAL, 6 SMDE03360 613956 C3151405 1595 C3279990 CANDIDIASIS, FAMILIAL, 7 1596 C3714992 CANDIDIASIS, FAMILIAL, 8 SMDE00627 615527 C3714992 1597 C4225324 CANDIDIASIS, FAMILIAL, 9 SMDE01714 616445 C4225324 1598 C0700345 Candidiasis, Vulvovaginal 1599 C0006868 Cannabis Abuse 1600 C0006870 Cannabis Dependence 1601 C3160814 Cannabis use 1602 C0236735 Cannabis-Related Disorder 1603 C0795905 Cantu syndrome SMDE03192 239850 C0795905 1604 C3710589 Cap Myopathy 1605 C2750413 Cap Myopathy, Tpm2-Related 1606 C2750414 CAP MYOPATHY, TPM3-RELATED (disorder) 1607 C0340803 Capillary malformation (disorder) 1608 C2675370 Capillary Malformation Without Arteriovenous Malformation 1609 C1842180 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) 1610 C4747394 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 1611 C4748670 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 1612 C1832466 CAPOS syndrome 1613 C4085580 Carbamoyl Phosphate Synthase 1 Deficiency 1614 C0751753 Carbamoyl-Phosphate Synthase I Deficiency Disease 1615 C4510743 Carbohydrate deficient glycoprotein syndrome type 1o 1616 C3553571 Carbohydrate deficient glycoprotein syndrome type 2k 1617 C0007001 Carbohydrate Metabolism, Inborn Errors 1618 C3810404 CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO SMDE03480 615751 C3810404 1619 C0398782 Carboxypeptidase N Deficiency SMDE04124 212070 C0398782 1620 C0596263 Carcinogenesis 1621 C0007095 Carcinoid Tumor dis_773 1622 C0349535 Carcinoid tumor of intestine 1623 C0280089 Carcinoid tumor of lung 1624 C0205695 Carcinoid, Goblet Cell 1625 C0007097 Carcinoma dis_774 SMDE05215 1626 C0154091 Carcinoma in situ of bladder 1627 C0346191 Carcinoma in situ of endometrium 1628 C0154059 Carcinoma in situ of esophagus 1629 C0154060 Carcinoma in situ of stomach 1630 C0851140 Carcinoma in situ of uterine cervix 1631 C0699885 Carcinoma of bladder 1632 C1704374 Carcinoma of Endocrine Gland 1633 C0684249 Carcinoma of lung 1634 C0238033 Carcinoma of Male Breast 1635 C4721806 Carcinoma, Basal Cell 1636 C0205643 Carcinoma, Cribriform 1637 C0206687 Carcinoma, Endometrioid 1638 C0205644 Carcinoma, Granular Cell 1639 C0206704 Carcinoma, Large Cell 1640 C0243038 Carcinoma, Lewis Lung 1641 C0206692 Carcinoma, Lobular 1642 C0206695 Carcinoma, Neuroendocrine 1643 C4721610 Carcinoma, Ovarian Epithelial 1644 C0887833 Carcinoma, Pancreatic Ductal dis_775 1645 C0262584 Carcinoma, Small Cell dis_776 1646 C0205697 Carcinoma, Spindle-Cell 1647 C0007138 Carcinoma, Transitional Cell dis_777 1648 C0205699 Carcinomatosis 1649 C0346990 Carcinomatosis of peritoneal cavity 1650 C0007140 Carcinosarcoma 1651 C0018790 Cardiac Arrest dis_781 1652 C0003811 Cardiac Arrhythmia 1653 C4225199 CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE 1654 C1970119 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED SMDE02288 600919 C1833154|C1970119 1655 C2748542 CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder) 1656 C4015285 CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY SMDE03592 616117 C4015285 1657 C0376297 Cardiac Death 1658 C0741916 Cardiac defects 1659 C1383860 Cardiac Hypertrophy dis_787 DIS00140 1660 C1832950 Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies 1661 C0085128 Cardiac Output, High 1662 C0007177 Cardiac Tamponade 1663 C1859330 Cardiac Valvular Defect, Developmental 1664 C0262436 Cardiac valvular dysplasia, X-linked SMDE03049 314400 C0262436 1665 C4748484 CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 1666 C4748946 CARDIAC-UROGENITAL SYNDROME 1667 C1858424 Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 1668 C3554534 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 2 SMDE01318 615119 C3554534 1669 C4225154 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 3 SMDE00902 616500 C4225154 1670 C4225304 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4 SMDE00047 616501 C4225304 1671 C1275081 Cardio-facio-cutaneous syndrome 1672 C3809005 CARDIOFACIOCUTANEOUS SYNDROME 2 SMDE03312 615278 C3809005 1673 C3809006 CARDIOFACIOCUTANEOUS SYNDROME 3 SMDE01645 615279 C3809006 1674 C3809007 CARDIOFACIOCUTANEOUS SYNDROME 4 SMDE03186 615280 C3809007 1675 C0018800 Cardiomegaly dis_791 1676 C0878544 Cardiomyopathies dis_793 DIS00142 1677 C0033141 Cardiomyopathies, Primary 1678 C1854063 Cardiomyopathy dilated with Woolly hair and keratoderma 1679 C0007192 Cardiomyopathy, Alcoholic 1680 C0007193 Cardiomyopathy, Dilated 1681 C2677338 Cardiomyopathy, Dilated, 1AA 1682 C2752072 Cardiomyopathy, Dilated, 1BB SMDE03038 612877 C2752072 1683 C1832244 CARDIOMYOPATHY, DILATED, 1C (disorder) 1684 C2751084 Cardiomyopathy, Dilated, 1CC SMDE00588 613122 C2751084 1685 C1832243 CARDIOMYOPATHY, DILATED, 1D (disorder) 1686 C2750995 Cardiomyopathy, Dilated, 1DD SMDE00626 613172 C2750995 1687 C1832680 CARDIOMYOPATHY, DILATED, 1E SMDE04345 601154 C1832680 1688 C2750466 Cardiomyopathy, Dilated, 1EE SMDE03897 613252 C2750466 1689 C2750091 Cardiomyopathy, Dilated, 1FF SMDE05083 613286 C2750091 1690 C1858763 Cardiomyopathy, Dilated, 1g SMDE02299 604145 C1858763 1691 C3150898 CARDIOMYOPATHY, DILATED, 1GG SMDE02596 613642 C3150898 1692 C3151293 CARDIOMYOPATHY, DILATED, 1HH SMDE00305 613881 C3151293 1693 C1858154 CARDIOMYOPATHY, DILATED, 1I SMDE02049 604765 C1858154 1694 C3554649 CARDIOMYOPATHY, DILATED, 1II SMDE04080 615184 C3554649 1695 C1854368 Cardiomyopathy, Dilated, 1J SMDE01850 605362 C1854368 1696 C3808935 CARDIOMYOPATHY, DILATED, 1JJ SMDE01862 615235 C3808935 1697 C3714995 CARDIOMYOPATHY, DILATED, 1KK SMDE03026 615248 C3808963|C3714995|C3714998 1698 C1847667 CARDIOMYOPATHY, DILATED, 1L SMDE04679 606685 C1847667 1699 C3809289 CARDIOMYOPATHY, DILATED, 1LL 1700 C1843808 CARDIOMYOPATHY, DILATED, 1M SMDE01692 607482 C1843808 1701 C3809346 CARDIOMYOPATHY, DILATED, 1MM 1702 C1843791 CARDIOMYOPATHY, DILATED, 1N 1703 C4014656 CARDIOMYOPATHY, DILATED, 1NN SMDE01321 615916 C4014656 1704 C1837839 CARDIOMYOPATHY, DILATED, 1O SMDE01540 608569 C1837839 1705 C1835928 CARDIOMYOPATHY, DILATED, 1P SMDE04744 609909 C1835928 1706 C3150681 CARDIOMYOPATHY, DILATED, 1R SMDE03909 613424 C3150682|C3150681 1707 C1834481 CARDIOMYOPATHY, DILATED, 1S SMDE02221 613426 C3150690|C1834481 1708 C3160720 Cardiomyopathy, Dilated, 1u SMDE03424 613694 C3160720 1709 C3150958 Cardiomyopathy, Dilated, 1V SMDE05036 613697 C3150958 1710 C1969639 Cardiomyopathy, Dilated, 1w SMDE02491 611407 C1969639 1711 C1969024 CARDIOMYOPATHY, DILATED, 1X SMDE01971 611615 C1969024 1712 C2678476 Cardiomyopathy, Dilated, 1y SMDE04850 611878 C2678476|C3808145 1713 C2678475 Cardiomyopathy, Dilated, 1z SMDE05171 611879 C2678475 1714 C2678474 CARDIOMYOPATHY, DILATED, 2A (disorder) 1715 C3553409 CARDIOMYOPATHY, DILATED, 2B SMDE03517 614672 C3553409 1716 C4748647 CARDIOMYOPATHY, DILATED, 2C 1717 C4014393 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS SMDE01462 615821 C4014393 1718 C4748014 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27 1719 C3495498 Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 1720 C1834460 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 SMDE00230 608758 C1834460 1721 C2677506 Cardiomyopathy, Familial Hypertrophic, 11 SMDE02171 612098 C2677506 1722 C2677491 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 SMDE04569 612124 C2677491 1723 C2750472 Cardiomyopathy, Familial Hypertrophic, 13 SMDE00707 613243 C2750472 1724 C2750467 Cardiomyopathy, Familial Hypertrophic, 14 SMDE01866 613251 C2750467 1725 C2750459 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 SMDE00330 613255 C2750459 1726 C3151204 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16 SMDE02384 613838 C3151204 1727 C3151264 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 SMDE00512 613873 C3151264 1728 C3151265 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18 SMDE03126 613874 C3151265 1729 C1861864 Cardiomyopathy, Familial Hypertrophic, 2 SMDE03834 115195 C1861864 1730 C3151267 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 SMDE04825 613876 C3151267 1731 C4225408 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 25 SMDE00099 607487 C4225408 1732 C4310749 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 1733 C1861863 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3 (disorder) 1734 C1833236 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 1735 C1860752 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 SMDE03131 613690 C1860752 1736 C1837471 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 SMDE01278 608751 C1837471 1737 C1861065 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 SMDE03475 613765 C1861065 1738 C1449563 Cardiomyopathy, Familial Idiopathic 1739 C1861861 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 1740 C2676271 CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) 1741 C1838539 CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE 1742 C0949658 Cardiomyopathy, Hypertrophic, Familial 1743 C2748884 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 1744 C0600228 Cardiopulmonary Arrest 1745 C2959886 Cardiopulmonary Exercise Test 1746 C0876994 Cardiotoxicity 1747 C0243050 Cardiovascular Abnormalities 1748 C0007222 Cardiovascular Diseases dis_797 1749 C0206617 Cardiovirus Infections 1750 C0869523 Carditis 1751 C0796279 Carnevale syndrome 1752 C0406810 Carney Complex SMDE04303 Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. D056733 605244|160980 1359 D44.8 C2607929|C0406810 1753 C1837245 Carney Complex Variant SMDE04275 608837 C1837245 1754 C2607929 Carney Complex, Type 1 SMDE04213 160980 C2607929 1755 C1854540 Carney Complex, Type 2 1756 C1829703 Carnitine palmitoyl transferase 1A deficiency SMDE02112 Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. 255120 156 E71.3 C1829703 1757 C0342790 Carnitine palmitoyl transferase 2 deficiency 1758 C1833511 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE SMDE00136 600649 C1833511 1759 C1833508 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 1760 C1833518 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL SMDE03733 608836 C1833518 1761 C0342791 Carnitine-Acylcarnitine Translocase Deficiency SMDE00266 212138 C0342791 1762 C3495555 Carnosinemia 1763 C0162510 Caroli Disease 1764 C1833541 Caroli disease isolated 1765 C2676024 CAROTENOIDS, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 1766 C0007273 Carotid Artery Diseases 1767 C0751633 Carotid Artery Plaque 1768 C0007274 Carotid Artery Thrombosis 1769 C0577631 Carotid Atherosclerosis 1770 C0751019 Carotid Circulation Transient Ischemic Attack 1771 C1836302 Carotid Intimal Medial Thickness 1 SMDE05180 609338 C1836302 1772 C0007282 Carotid Stenosis 1773 C0751634 Carotid Ulcer 1774 C0007286 Carpal Tunnel Syndrome SMDE03837 DIS00147 115430 C0007286 1775 C4551510 CARPENTER SYNDROME 1 SMDE00872 201000 C1275078 1776 C3554247 CARPENTER SYNDROME 2 SMDE02659 614976 C3554247 1777 C0449439 Carrier status 1778 C0007302 Cartilage Diseases 1779 C0220748 Cartilage-hair hypoplasia SMDE02122 Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. C535916 250250|250460 175 Q78.8 C0220748 1780 C0029423 Cartilaginous exostosis 1781 C0265493 Cat eye syndrome 1782 C2931868 Catalase deficiency 1783 C0007370 Catalepsy dis_801 1784 C0086543 Cataract dis_803 1785 C3808115 CATARACT 12, MULTIPLE TYPES SMDE01947 611597 C3808115 1786 C3805373 CATARACT 13 WITH ADULT i PHENOTYPE SMDE00004 116700 C3805373 1787 C3809001 CATARACT 15, MULTIPLE TYPES SMDE01551 615274 C3809001 1788 C3808377 CATARACT 16, MULTIPLE TYPES SMDE04949 613763 C3808377|C3151065|C0266537 1789 C3888124 CATARACT 17, MULTIPLE TYPES SMDE01207 611544 C3888124|C1969062 1790 C4017073 CATARACT 18, AUTOSOMAL RECESSIVE 1791 C3809004 CATARACT 19, MULTIPLE TYPES SMDE01406 615277 C3809004 1792 C4721890 CATARACT 2, MULTIPLE TYPES SMDE04902 604307 C1852438 1793 C3805410 CATARACT 20, MULTIPLE TYPES SMDE02214 116100 C3805410 1794 C3888097 CATARACT 21, MULTIPLE TYPES SMDE00942 610202 C3888097|C1857768 1795 C3808012 CATARACT 23, MULTIPLE TYPES 1796 C3805411 CATARACT 30 SMDE00815 116300 C3805411 1797 C3808107 CATARACT 33, MULTIPLE TYPES 1798 C3151304 CATARACT 36 SMDE02245 613887 C3151304 1799 C3553494 CATARACT 38 SMDE03654 614691 C3553494 1800 C3808800 CATARACT 39, MULTIPLE TYPES SMDE04564 615188 C3808800 1801 C3540850 CATARACT 4, MULTIPLE TYPES SMDE01487 115700 C3888390|C1837023|C3888391|C3540850|C1861832 1802 C4049004 CATARACT 40 SMDE03769 302200 C2930878|C4049005|C4049004 1803 C3805412 CATARACT 41 SMDE03163 116400 C3805412 1804 C4011454 CATARACT 42 SMDE00997 115900 C4011454 1805 C4225389 CATARACT 43 SMDE01583 616279 C4225389 1806 C4225300 CATARACT 44 SMDE00828 616509 C4225300 1807 C4225182 CATARACT 45 SMDE00444 616851 C4225182 1808 C0220721 CATARACT 46, JUVENILE-ONSET SMDE03523 212500 C0220721 1809 C4310806 CATARACT 47 SMDE03138 612018 C4310806 1810 C3888417 CATARACT 5, MULTIPLE TYPES SMDE03120 116800 C3888417|C1861821 1811 C1859317 Cataract and cardiomyopathy 1812 C1861829 Cataract microcornea syndrome 1813 C1855179 CATARACT, ANTERIOR POLAR 1814 C1858679 CATARACT, AUTOSOMAL DOMINANT 1815 C1969032 Cataract, Autosomal Dominant, Multiple Types 1 1816 C3888098 Cataract, Autosomal Recessive Congenital 1 1817 C1864908 Cataract, autosomal recessive congenital 2 1818 C2751822 Cataract, Autosomal Recessive Congenital 3 1819 C1854021 Cataract, Central Saccular, With Sutural Opacities 1820 C1857853 Cataract, Congenital Nuclear, Autosomal Recessive 2 1821 C1969062 Cataract, Congenital Nuclear, Autosomal Recessive 3 1822 C1833229 Cataract, Congenital Zonular, with Sutural Opacities 1823 C0344523 Cataract, congenital, cerulean type 1 1824 C1832175 Cataract, Congenital, Cerulean Type, 2 1825 C2930878 Cataract, congenital, with microcornea or slight microphthalmia 1826 C1852438 CATARACT, COPPOCK-LIKE 1827 C1969644 Cataract, Cortical, Juvenile-Onset 1828 C2677587 Cataract, Juvenile, With Microcornea And Glucosuria 1829 C1861821 CATARACT, MARNER TYPE 1830 C1861827 Cataract, Nuclear Diffuse Nonprogressive 1831 C1861825 CATARACT, POSTERIOR POLAR, 1 1832 C1854311 Cataract, posterior polar, 3 1833 C1864567 CATARACT, POSTERIOR POLAR, 4 (disorder) 1834 C1970386 Cataract, Posterior Polar, 4, With Microphthalmia And Neurodevelopmental Abnormalities 1835 C1833118 Cataract, Pulverulent 1836 C1857768 Cataract, Pulverulent, Juvenile-Onset 1837 C4049005 Cataract, total congenital with posterior sutural opacities in Heterozygotes 1838 C1861828 Cataract, Zonular Pulverulent 1 1839 C1866078 Cataract, Zonular Pulverulent 3 1840 C1832812 Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation 1841 C4014942 CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA SMDE04025 616007 C4014942 1842 C0007398 Catatonia 1843 C0750992 Catatonia, Malignant 1844 C0338650 Catatonia, Organic 1845 C0233608 Catatonic Rigidity 1846 C4053736 Catecholaminergic Polymorphic Ventricular Tachycardia Type 1 1847 C1844887 Catel Manzke syndrome 1848 C1864852 CATSHL syndrome 1849 C1842884 Caudal Duplication Anomaly SMDE00149 607864 C1842884 1850 C1838569 Caudal Dysgenesis Syndrome 1851 C2609260 Caudal dysplasia syndrome 1852 C0300948 Caudal Regression Syndrome 1853 C1956260 Cavernous Angioma, Central Nervous System 1854 C2919945 Cavernous Hemangioma of Brain 1855 C0752161 Cavernous Hemangioma, Extracerebral 1856 C0752164 Cavernous Hemangioma, Intracerebral 1857 C1969063 Cavitary Optic Disc Anomalies SMDE04460 611543 C1969063 1858 C1859049 CCHS WITH HIRSCHSPRUNG DISEASE 1859 C2676767 CD59 Deficiency 1860 C1837065 CD8 Deficiency, Familial SMDE02097 608957 C1837065 1861 C0007528 Cecal Neoplasms 1862 C0007570 Celiac Disease dis_806 1863 C1384403 Cellular Ependymoma 1864 C0007642 Cellulitis dis_808 1865 C1536451 Central areolar choroidal sclerosis 1866 C0751951 Central Core Myopathy (disorder) 1867 C0687720 Central Diabetes Insipidus dis_812 1868 C0271801 Central hypothyroidism dis_814 1869 C1842364 Central hypotonia 1870 C1333813 Central Nervous System Germinoma 1871 C0752110 Central Nervous System Inborn Metabolic Diseases 1872 C0750968 Central Nervous System Metabolic Disorders 1873 C0085136 Central Nervous System Neoplasms 1874 C0751620 Central Nervous System Neoplasms, Primary 1875 C0342543 Central Precocious Puberty 1876 C3810365 Central visual impairment 1877 C0221227 Centriacinar Emphysema 1878 C4511056 Centripetalis recessive dystrophic epidermolysis bullosa SMDE04793 Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB, see this term), characterized by blistering which begins acrally and then progressively spreads toward the trunk. 89841 Q81.2 1879 C0175709 Centronuclear myopathy 1880 C0007758 Cerebellar Ataxia 1881 C1859305 Cerebellar Ataxia and Hypogonadotropic Hypogonadism 1882 C4285893 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 1883 C1832585 CEREBELLAR ATAXIA, CAYMAN TYPE SMDE02662 601238 C1832585 1884 C1858804 Cerebellar Ataxia, Deafness, and Narcolepsy 1885 C3807295 CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT SMDE02777 604121 C3807295 1886 C0393519 Cerebellar Ataxia, Early Onset 1887 C4014821 Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 1888 C0393524 Cerebellar Ataxia, Late Onset 1889 C4551552 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 SMDE02686 224050 C0394006 1890 C2750234 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 SMDE04227 610185 C2750234 1891 C2750509 Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 SMDE03868 613227 C2750509 1892 C3808977 CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 SMDE04191 615268 C3808977 1893 C3553661 CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION SMDE03377 614756 C3553661 1894 C0231695 Cerebellar ataxic gait 1895 C0740279 Cerebellar atrophy 1896 C4539985 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES 1897 C4225172 CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION SMDE03227 616875 C4225172 1898 C1865782 CEREBELLAR DEGENERATION-RELATED AUTOANTIGEN 3 1899 C0033132 Cerebellar Degenerations, Primary 1900 C0007760 Cerebellar Diseases 1901 C0234162 Cerebellar Dysmetria 1902 C0231691 Cerebellar Gait Ataxia 1903 C0750994 Cerebellar Hemiataxia 1904 C0266470 Cerebellar Hypoplasia 1905 C1859301 Cerebellar hypoplasia with endosteal sclerosis 1906 C4015495 CEREBELLOFACIODENTAL SYNDROME SMDE00684 616202 C4015495 1907 C0085220 Cerebral Amyloid Angiopathy dis_823 1908 C2751536 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED SMDE04371 605714 C2751536|C3888307|C3888309|C2751494|C3888308|C2931672 1909 C2751494 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT 1910 C3888307 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT 1911 C3888309 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT 1912 C3888308 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT 1913 C1956349 Cerebral Amyloid Angiopathy, Genetic 1914 C2751493 Cerebral Amyloid Angiopathy, Gsn-Related 1915 C1510489 Cerebral Amyloid Angiopathy, Hereditary 1916 C1867773 CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 SMDE00755 176500 C1867773 1917 C0917996 Cerebral Aneurysm 1918 C4551768 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 SMDE03092 125310 C0751587 1919 C4225211 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 1920 C0750935 Cerebral Astrocytoma 1921 C0235946 Cerebral atrophy dis_825 1922 C1838577 Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1923 C0270685 Cerebral calcification dis_826 1924 C1140710 Cerebral Cavernous Hemangioma 1925 C1864041 CEREBRAL CAVERNOUS MALFORMATIONS 2 SMDE01957 603284 C1864041 1926 C1864040 Cerebral Cavernous Malformations 3 SMDE04036 603285 C1864040 1927 C0751303 Cerebral Convexity Meningioma 1928 C1836033 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome SMDE03996 609528 C1836033 1929 C0006114 Cerebral Edema dis_831 DIS00153 1930 C0877855 Cerebral Embolism and Thrombosis 1931 C2937358 Cerebral Hemorrhage dis_833 1932 C2931672 Cerebral hemorrhage with amyloidosis, hereditary, Dutch type 1933 C2677328 Cerebral hypomyelination 1934 C0178540 Cerebral Hypoxia-Ischemia 1935 C0007785 Cerebral Infarction dis_835 DIS00154 1936 C0751010 Cerebral Infarction, Left Hemisphere 1937 C0751011 Cerebral Infarction, Right Hemisphere 1938 C0917798 Cerebral Ischemia dis_836 DIS00155 1939 C0007789 Cerebral Palsy dis_839 1940 C0394007 Cerebral Palsy, Atonic 1941 C0394003 Cerebral Palsy, Dystonic-Rigid 1942 C0751024 Cerebral Palsy, Mixed 1943 C0154697 Cerebral Palsy, Quadriplegic, Infantile 1944 C0751025 Cerebral Palsy, Rolandic Type 1945 C2751938 Cerebral Palsy, Spastic Quadriplegic, 1 SMDE04476 603513 C2751938 1946 C2752061 Cerebral Palsy, Spastic Quadriplegic, 2 SMDE05050 612900 C2752061 1947 C4310767 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 1948 C0751675 Cerebral Primitive Neuroectodermal Tumor 1949 C2733158 Cerebral Small Vessel Diseases 1950 C0079102 Cerebral Thrombosis 1951 C0936263 Cerebral Thrombus 1952 C0265110 Cerebral Vasospasm dis_841 DIS00157 1953 C1531647 Cerebral ventriculomegaly 1954 C0265342 Cerebrocostomandibular Syndrome SMDE02123 Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (shor hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. 117650 1393 Q87.8 C0265342 1955 C3501912 Cerebrocostomandibular-Like Syndrome 1956 C1859252 Cerebrofaciothoracic Dysplasia SMDE02265 Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. 213980 1394 Q87.5 C1859252 1957 C0220722 Cerebrooculofacioskeletal Syndrome 1 SMDE03110 214150 C0220722 1958 C1853102 Cerebrooculofacioskeletal Syndrome 2 SMDE03297 610756 C1853102 1959 C1851443 Cerebrooculofacioskeletal Syndrome 3 SMDE04109 616570 C1851443 1960 C1853100 CEREBROOCULOFACIOSKELETAL SYNDROME 4 SMDE04737 610758 C1853100 1961 C2677299 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 1962 C4552029 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 1963 C4479220 CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2 1964 C4303791 Cerebroretinal vasculopathy 1965 C0038454 Cerebrovascular accident dis_844 1966 C0007820 Cerebrovascular Disorders 1967 C0241832 Cerebrovascular Insufficiency 1968 C0596298 Cerebrovascular Occlusion 1969 C2931673 Ceroid lipofuscinosis, neuronal 1, infantile 1970 C1850451 CEROID LIPOFUSCINOSIS, NEURONAL, 1 SMDE05198 256730 C2931673|C1850451|C0268281 1971 C3539123 CEROID LIPOFUSCINOSIS, NEURONAL, 11 SMDE03267 614706 C3539123 1972 C3715049 CEROID LIPOFUSCINOSIS, NEURONAL, 13 SMDE03206 615362 C3715049 1973 C1876161 CEROID LIPOFUSCINOSIS, NEURONAL, 2 SMDE01273 204500 C0022340|C1876161 1974 C1850442 CEROID LIPOFUSCINOSIS, NEURONAL, 5 SMDE04620 256731 C1850442 1975 C1866282 CEROID LIPOFUSCINOSIS, NEURONAL, 6 SMDE00813 601780 C1866282 1976 C1838571 Ceroid Lipofuscinosis, Neuronal, 7 SMDE00994 610951 C1838571 1977 C1838570 CEROID LIPOFUSCINOSIS, NEURONAL, 8 SMDE04242 600143 C1838570 1978 C1834207 Ceroid Lipofuscinosis, Neuronal, Parry Type 1979 C0878682 Ceruloplasmin deficiency 1980 C4048328 cervical cancer dis_847 SMDE03624 DIS00158 1981 C0949445 Cervical Dystonia 1982 C1865819 CERVICAL DYSTONIA, PRIMARY 1983 C0206708 Cervical Intraepithelial Neoplasia dis_849 1984 C0007852 Cervical Migraine Syndrome 1985 C0007862 Cervico-Brachial Neuralgia 1986 C0302592 Cervix carcinoma 1987 C3553720 CFHR5 DEFICIENCY SMDE05117 614809 C3553720 1988 C1868570 CHAR SYNDROME SMDE04851 Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. C538076 169100 46627 Q87.8 C1868570 1989 C0231693 Charcot Gait 1990 C0007959 Charcot-Marie-Tooth Disease dis_855 1991 C4749824 Charcot-Marie-Tooth disease type 2B5 1992 C3695063 Charcot-Marie-Tooth disease type 4B3 1993 C4721887 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A SMDE03217 609260 C1836485 1994 C4310725 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B 1995 C1861678 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 SMDE02154 118210 C1861678 1996 C1836485 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder) 1997 C1833219 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) 1998 C4310790 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC SMDE03610 616924 C4310790 1999 C4747974 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD 2000 C1843225 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 2001 C1847823 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F SMDE03029 606595 C1847823 2002 C1837805 Charcot-Marie-Tooth disease, axonal, Type 2G 2003 C1842983 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K SMDE04239 607831 C1842983|C1842984 2004 C1837552 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder) 2005 C2750090 Charcot-Marie-Tooth Disease, Axonal, Type 2n SMDE05024 613287 C2750090 2006 C3280220 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O SMDE03504 614228 C3280220 2007 C3280797 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P SMDE03189 614436 C3280797 2008 C3554366 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q SMDE04033 615025 C3554366 2009 C3809655 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R SMDE05075 615490 C3809655 2010 C4015349 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S SMDE04437 616155 C4015349 2011 C4015635 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T 2012 C4084821 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U SMDE04015 616280 C4084821 2013 C4225306 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V SMDE02535 616491 C4225306 2014 C4225265 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W SMDE00317 616625 C4225265 2015 C4225253 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X SMDE04785 616668 C4225253 2016 C4225244 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y SMDE04491 616687 C4225244 2017 C4225243 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z SMDE01880 616688 C4225243 2018 C3495591 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e 2019 C1843164 Charcot-Marie-Tooth disease, demyelinating, Type 1F SMDE05196 607734 C1843164 2020 C4748940 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G 2021 C3540453 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F SMDE03320 614895 C3540453 2022 C1847902 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder) 2023 C1842237 Charcot-Marie-Tooth Disease, Dominant Intermediate C SMDE02502 608323 C1842237 2024 C1843075 Charcot-Marie-Tooth Disease, Dominant Intermediate D SMDE03666 607791 C1843075 2025 C3280845 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E SMDE05099 614455 C3280845 2026 C3554654 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F SMDE03172 615185 C3554654 2027 C4693509 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 2028 C1842197 Charcot-Marie-Tooth Disease, Recessive Intermediate A SMDE03548 608340 C1842197 2029 C3150897 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B SMDE03307 613641 C3150897 2030 C3809309 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C SMDE03875 615376 C3809309 2031 C4015029 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D SMDE04795 616039 C4015029 2032 C0270913 Charcot-Marie-Tooth disease, Type 1C 2033 C1843247 Charcot-Marie-Tooth disease, Type 1D (disorder) 2034 C1854154 Charcot-Marie-Tooth disease, Type 2B1 2035 C1854150 Charcot-Marie-Tooth disease, Type 2B2 2036 C1832274 Charcot-Marie-Tooth disease, Type 2D 2037 C3888087 Charcot-Marie-Tooth disease, Type 2I 2038 C1843153 Charcot-Marie-Tooth disease, Type 2J 2039 C4225578 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y 2040 C1859198 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) 2041 C1843183 Charcot-Marie-Tooth disease, Type 4A, axonal form 2042 C1832399 Charcot-Marie-Tooth disease, Type 4B1 SMDE01011 601382 C1832399 2043 C1858278 Charcot-Marie-Tooth disease, Type 4B2 SMDE03639 604563 C1858280|C1858278|C1858279 2044 C1866636 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C SMDE03015 601596 C1866636 2045 C1832334 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D SMDE02363 601455 C1832334 2046 C4721437 Charcot-Marie-Tooth disease, Type 4E 2047 C1836336 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H SMDE00604 609311 C1836336 2048 C1970011 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J SMDE00418 611228 C1970011 2049 C0270911 Charcot-Marie-Tooth Disease, Type Ia (disorder) 2050 C0270912 Charcot-Marie-Tooth Disease, Type Ib 2051 C3806702 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6 2052 C1839566 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 SMDE00920 311070 C1839566 2053 C0393808 Charcot-Marie-Tooth disease, X-linked, 1 2054 C0265354 CHARGE Syndrome SMDE02301 CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).Cranial nerve dysfunction; Charact D058747 214800 138 Q87.8 C0265354 2055 C0007965 Chediak-Higashi Syndrome 2056 C4277682 Chemical and Drug Induced Liver Injury dis_857 2057 C4279912 Chemically-Induced Liver Toxicity 2058 C0008029 Cherubism SMDE03114 Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. D002636 118400 184 K10.8 C0008029 2059 C0008031 Chest Pain dis_860 2060 C0555206 Chiari malformation type II 2061 C0024145 Chilblain lupus 1 SMDE05108 610448 C0024145 2062 C3280721 CHILBLAIN LUPUS 2 SMDE01735 614415 C3280721 2063 C0085996 Child Development Deviations 2064 C0008074 Child Development Disorders, Pervasive 2065 C0085997 Child Development Disorders, Specific 2066 C4281785 Childhood Absence Epilepsy 2067 C0023452 Childhood Acute Lymphoblastic Leukemia 2068 C0220621 Childhood Acute Myeloid Leukemia 2069 C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization 2070 C0393675 Childhood Benign Occipital Epilepsy 2071 C0278600 Childhood Brain Stem Glioma 2072 C0338070 Childhood Cerebral Astrocytoma 2073 C0279606 Childhood Hepatocellular Carcinoma 2074 C0220743 Childhood hypophosphatasia (disorder) 2075 C0279987 Childhood Malignant Peripheral Nerve Sheath Tumor 2076 C0278510 Childhood Medulloblastoma 2077 C0280475 Childhood Oligodendroglioma 2078 C0752202 Childhood Onset Dystonias 2079 C4521075 Childhood Overweight 2080 C0393540 Childhood Progressive Bulbar Palsy 2081 C0751553 Childhood Tic Disorders 2082 C4225178 Childhood-onset spasticity with hyperglycinemia 2083 C1859846 Childhood-onset truncal obesity dis_863 2084 C0085593 Chills 2085 C4310679 CHITAYAT SYNDROME 2086 C0008149 Chlamydia Infections 2087 C0025218 Chloasma 2088 C0263454 Chloracne 2089 C0008297 Choanal Atresia 2090 C3150875 CHOANAL ATRESIA AND LYMPHEDEMA SMDE03116 613611 C3150875 2091 C0008301 Choking 2092 C0206698 Cholangiocarcinoma dis_865 SMDE00207 2093 C0008311 Cholangitis dis_866 2094 C0008313 Cholangitis, Sclerosing 2095 C0947622 Cholecystolithiasis 2096 C0008340 Choledochal Cyst 2097 C0009439 Choledochal Cyst, Type I 2098 C1257796 Choledochal Cyst, Type II 2099 C1257797 Choledochal Cyst, Type III 2100 C1257798 Choledochal Cyst, Type IV 2101 C1257799 Choledochal Cyst, Type V 2102 C0701818 Choledocholithiasis 2103 C0008350 Cholelithiasis dis_868 2104 C1565321 Cholera Infantum 2105 C0008370 Cholestasis dis_869 DIS00163 2106 C0268318 Cholestasis of pregnancy 2107 C4551899 Cholestasis, benign recurrent intrahepatic 1 2108 C2608083 Cholestasis, benign recurrent intrahepatic 2 2109 C0005398 Cholestasis, Extrahepatic 2110 C3554241 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3 SMDE04189 614972 C3554241 2111 C3549845 CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 SMDE00298 147480 C3549845 2112 C4551898 Cholestasis, progressive familial intrahepatic 1 2113 C1865643 Cholestasis, progressive familial intrahepatic 3 2114 C2931067 Cholestasis, progressive familial intrahepatic 4 2115 C3489789 Cholestasis, Progressive Familial Intrahepatic, 2 SMDE04621 601847 C3489789 2116 C4310747 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 2117 C0149649 Cholesterol Embolism 2118 C0008384 Cholesterol Ester Storage Disease 2119 C0342883 Cholesteryl Ester Transfer Protein Deficiency 2120 C0008441 Chondroblastoma 2121 C0008445 Chondrodysplasia Punctata 2122 C0282529 Chondrodysplasia Punctata, Rhizomelic 2123 C0282102 Chondrodysplasia punctata, X-linked dominant type 2124 C3279757 CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE SMDE03380 614078 C3279757 2125 C3275476 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA SMDE01552 300863 C3275476 2126 C1836182 Chondrodysplasia, acromesomelic, with genital anomalies 2127 C1859148 Chondrodysplasia, blomstrand type SMDE03762 215045 C1859148 2128 C0265260 Chondrodysplasia, Grebe type SMDE03869 200700 C0265260 2129 C2750075 Chondrodysplasia, Megarbane-Dagher-Melki Type 2130 C0936248 Chondroma 2131 C0085700 Chondromalacia 2132 C0221290 Chondromyxoid fibroma 2133 C0008479 Chondrosarcoma dis_877 SMDE03570 DIS00164 2134 C4085597 CHOPS SYNDROME SMDE02205 616368 C4085597 2135 C0008487 Chordoma dis_879 2136 C0008489 Chorea dis_880 2137 C0393576 Chorea Acanthocytosis Syndrome 2138 C1859098 Chorea, Benign Familial 2139 C4310787 CHOREA, CHILDHOOD-ONSET, WITH PSYCHOMOTOR RETARDATION SMDE01854 616939 C4310787 2140 C0238056 Chorea, Senile 2141 C1970270 Choreoathetosis And Congenital Hypothyroidism 2142 C1970269 Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress 2143 C1832855 CHOREOATHETOSIS/SPASTICITY, EPISODIC 2144 C0008495 Chorioamnionitis 2145 C0677608 Chorioangioma 2146 C1859093 Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 2147 C0431109 Choroid Plexus Carcinoma dis_883 2148 C0205770 Choroid Plexus Papilloma dis_885 2149 C4551884 Choroidal Dystrophy, Central Areolar 1 2150 C2751290 CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 SMDE03135 613105 C2751290 2151 C0600518 Choroidal Neovascularization dis_888 2152 C0344297 Choroidal sclerosis 2153 C0008525 Choroideremia SMDE03293 Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. D015794 303100 180 H31.2 C0008525|C0344297 2154 C0162359 Christ-Siemens-Touraine syndrome 2155 C1266042 Chromophobe Renal Cell Carcinoma 2156 C1257806 Chromosomal Instability 2157 C2931383 Chromosomal mosaicism due to mitotic instability 2158 C0040715 Chromosomal translocation 2159 C4225431 CHROMOSOME 10p12-p11 DELETION SYNDROME 2160 C1832588 Chromosome 11p11.2 Deletion Syndrome 2161 C3151302 Chromosome 13q14 deletion syndrome 2162 C2677613 Chromosome 15q13.3 Microdeletion Syndrome 2163 C4225666 CHROMOSOME 15q14 DELETION SYNDROME 2164 C2675463 Chromosome 15q26-Qter Deletion Syndrome 2165 C3150701 CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB 2166 C3150154 CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB 2167 C3149276 CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB SMDE03790 136570 C1414725|C3149276|C1850985 2168 C4225667 CHROMOSOME 16p13.2 DELETION SYNDROME 2169 C2931713 Chromosome 17 deletion 2170 C3683846 Chromosome 17p Deletion Syndrome 2171 C2750748 Chromosome 17p13.3 Duplication Syndrome 2172 C3281138 CHROMOSOME 17q12 DELETION SYNDROME 2173 C1864871 Chromosome 17q21.31 Deletion Syndrome 2174 C3150607 CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME 2175 C3150880 CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME 2176 C4311048 CHROMOSOME 19q13.11 DELETION SYNDROME, DISTAL 2177 C1842870 Chromosome 1p36 Deletion Syndrome 2178 C2675897 Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb SMDE04372 612474 C2675897 2179 C2931816 Chromosome 2, monosomy 2q24 2180 C2678480 Chromosome 22q11.2 Deletion Syndrome, Distal 2181 C2675369 Chromosome 22q11.2 Microduplication Syndrome 2182 C3808494 CHROMOSOME 2p16.3 DELETION SYNDROME 2183 C2676739 Chromosome 2q32-Q33 Deletion Syndrome 2184 C2931817 Chromosome 2q37 deletion syndrome 2185 C0795806 Chromosome 3, monosomy 3p 2186 C2931337 Chromosome 3, monosomy 3p25 2187 C2931574 Chromosome 5, monosomy 5q35 2188 C2750805 Chromosome 5p13 Duplication Syndrome 2189 C3150215 CHROMOSOME 6q24-q25 DELETION SYNDROME 2190 C2931638 Chromosome 8, monosomy 8p23 1 2191 C3150773 CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME 2192 C0008625 Chromosome Aberrations 2193 C0376628 Chromosome Breakage dis_890 2194 C0333704 Chromosome Breaks 2195 C0008628 Chromosome Deletion 2196 C1563697 Chromosome Instability Syndromes 2197 C2749022 Chromosome Xp11.23-P11.22 Duplication Syndrome 2198 C3275521 CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME 2199 C2749007 Chromosome Xq28 Duplication Syndrome 2200 C0520463 Chronic active hepatitis dis_892 2201 C1527303 Chronic Airflow Obstruction 2202 C0524610 Chronic Alcoholic Hepatitis 2203 C4015474 Chronic atrial and intestinal dysrhythmia SMDE03882 616201 C4015474 2204 C1720797 Chronic Bacterial Prostatitis 2205 C0221052 Chronic berylliosis 2206 C0581391 Chronic depression dis_905 2207 C0401151 Chronic diarrhea dis_906 2208 C0346421 Chronic eosinophilic leukemia 2209 C0018203 Chronic granulomatous disease SMDE03445 Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. D006105 233700|233690|613960|306400|233670|233710 379 D71 C0018203 2210 C0264716 Chronic heart failure dis_911 DIS00171 2211 C4727002 Chronic Hemolysis 2212 C0409818 Chronic Infantile Neurological, Cutaneous, and Articular Syndrome 2213 C0751249 Chronic Insomnia 2214 C0600040 Chronic interstitial cystitis 2215 C2316810 Chronic kidney disease stage 5 2216 C1561643 Chronic Kidney Diseases 2217 C0403447 Chronic Kidney Insufficiency 2218 C2936476 Chronic Liver Failure 2219 C2350344 Chronic Lung Injury 2220 C0023434 Chronic Lymphocytic Leukemia DIS00176 2221 C1512709 Chronic Lymphoproliferative Disorder of NK-Cells 2222 C0008701 Chronic Motor or Vocal Tic Disorder 2223 C1292778 Chronic myeloproliferative disorder 2224 C0746882 Chronic neutropenia 2225 C0023481 Chronic Neutrophilic Leukemia 2226 C0024117 Chronic Obstructive Airway Disease 2227 C0150055 Chronic pain dis_935 DIS00184 2228 C0266929 Chronic Periodontitis 2229 C0149519 Chronic Persistent Hepatitis 2230 C0699728 Chronic progressive chorea 2231 C0162674 Chronic progressive external ophthalmoplegia 2232 C1723764 Chronic Prostatitis with Chronic Pelvic Pain Syndrome 2233 C1443892 Chronic Q Fever 2234 C0221765 Chronic schizophrenia 2235 C0236811 Chronobiology Disorders 2236 C1858695 Chudley-Mccullough syndrome SMDE04940 604213 C1858695 2237 C0795956 Chylomicron retention disease SMDE04497 Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. C535460 246700 71 E78.6 C0795956 2238 C0242426 Chylopericardium 2239 C0235229 Ciliary Body Spasm 2240 C4551906 Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 2241 C2675867 CILIARY DYSKINESIA, PRIMARY, 10 SMDE00951 612518 C2675867 2242 C2675229 CILIARY DYSKINESIA, PRIMARY, 11 SMDE05091 612649 C2675229 2243 C2675228 CILIARY DYSKINESIA, PRIMARY, 12 SMDE04502 612650 C2675228 2244 C2750790 CILIARY DYSKINESIA, PRIMARY, 13 SMDE02578 613193 C2750790 2245 C3151136 CILIARY DYSKINESIA, PRIMARY, 14 SMDE00015 613807 C3151136 2246 C3151137 CILIARY DYSKINESIA, PRIMARY, 15 SMDE03516 613808 C3151137 2247 C3151460 CILIARY DYSKINESIA, PRIMARY, 16 SMDE03041 614017 C3151460 2248 C3542550 CILIARY DYSKINESIA, PRIMARY, 17 SMDE01213 614679 C3542550 2249 C3543825 CILIARY DYSKINESIA, PRIMARY, 18 SMDE01089 614874 C3543825 2250 C3543826 CILIARY DYSKINESIA, PRIMARY, 19 SMDE01529 614935 C3543826 2251 C1847554 CILIARY DYSKINESIA, PRIMARY, 2 (disorder) 2252 C3540844 CILIARY DYSKINESIA, PRIMARY, 20 SMDE01845 615067 C3540844 2253 C3809087 CILIARY DYSKINESIA, PRIMARY, 21 SMDE00927 615294 C3809087 2254 C3809543 CILIARY DYSKINESIA, PRIMARY, 22 SMDE04056 615444 C3809543 2255 C3809548 CILIARY DYSKINESIA, PRIMARY, 23 SMDE05088 615451 C3809548 2256 C3809634 CILIARY DYSKINESIA, PRIMARY, 24 SMDE00357 615481 C3809634 2257 C3809641 CILIARY DYSKINESIA, PRIMARY, 25 SMDE01860 615482 C3809641 2258 C3809684 CILIARY DYSKINESIA, PRIMARY, 26 SMDE02661 615500 C3809684 2259 C3809701 CILIARY DYSKINESIA, PRIMARY, 27 SMDE04708 615504 C3809701 2260 C3809706 CILIARY DYSKINESIA, PRIMARY, 28 SMDE00440 615505 C3809706 2261 C4014534 CILIARY DYSKINESIA, PRIMARY, 29 SMDE04635 615872 C4014534 2262 C1837618 CILIARY DYSKINESIA, PRIMARY, 3 SMDE04640 608644 C1837618 2263 C4015016 CILIARY DYSKINESIA, PRIMARY, 30 SMDE01734 616037 C4015016 2264 C4225311 CILIARY DYSKINESIA, PRIMARY, 32 SMDE04551 616481 C4225311 2265 C4225230 CILIARY DYSKINESIA, PRIMARY, 33 SMDE01366 616726 C4225230 2266 C4310722 CILIARY DYSKINESIA, PRIMARY, 34 2267 C4310721 CILIARY DYSKINESIA, PRIMARY, 35 2268 C4478372 CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED 2269 C4539798 CILIARY DYSKINESIA, PRIMARY, 37 2270 C4748052 CILIARY DYSKINESIA, PRIMARY, 38 2271 C4748841 CILIARY DYSKINESIA, PRIMARY, 39 2272 C4749028 CILIARY DYSKINESIA, PRIMARY, 40 2273 C1837615 Ciliary Dyskinesia, Primary, 5 SMDE01113 608647 C1837615 2274 C1970506 CILIARY DYSKINESIA, PRIMARY, 6 SMDE00200 610852 C1970506 2275 C2678473 CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 2276 C4552030 Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus 2277 C2676235 CILIARY DYSKINESIA, PRIMARY, 9 SMDE04314 612444 C2676235 2278 C0008780 Ciliary Motility Disorders 2279 C4277690 Ciliopathies 2280 C0813142 Circadian Rhythm Disorders 2281 C1623038 Cirrhosis dis_953 2282 C1861556 Cirrhosis, Familial 2283 C0175683 Citrullinemia 2284 C4721769 Citrullinemia Type 1 2285 C1853942 CITRULLINEMIA, TYPE II, NEONATAL-ONSET SMDE03314 605814 C1853942 2286 C3151781 CK syndrome SMDE02181 300831 C3151781 2287 C2751313 CLAPO Syndrome 2288 C0277820 Clasp-Knife Spasticity 2289 C0268568 Classic Maple Syrup Urine Disease 2290 C0751916 Classic Pelizaeus-Merzbacher Disease 2291 C0268151 Classical galactosemia 2292 C1955870 Classical Lissencephalies and Subcortical Band Heterotopias 2293 C0431375 Classical Lissencephaly 2294 C0751434 Classical phenylketonuria 2295 C0008909 Claustrophobia 2296 C1518693 Clear cell adenocarcinoma of ovary 2297 C0431121 Clear Cell Meningioma 2298 C4518333 Clear cell papillary renal cell carcinoma 2299 C0334488 Clear cell sarcoma of kidney 2300 C0206651 Clear Cell Sarcoma of Soft Tissue 2301 C2931852 Clear-cell metastatic renal cell carcinoma 2302 C1298692 Cleft lip and alveolus 2303 C0810364 Cleft Lip with or without Cleft Palate 2304 C0685786 Cleft mandible 2305 C0432090 Cleft of hard palate 2306 C0008925 Cleft Palate 2307 C0158646 Cleft palate with cleft lip 2308 C1837218 Cleft palate, isolated SMDE01072 119540 C1837218 2309 C4225229 CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES SMDE04325 616728 C4225229 2310 C1844830 CLEFT PALATE, X-LINKED 2311 C0432098 Cleft Soft Palate 2312 C0008924 Cleft upper lip 2313 C0266122 Cleft uvula 2314 C0008928 Cleidocranial Dysplasia SMDE04318 Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities. D002973 119600|216330 1452 Q74.0 C0008928|C1838416|C1861516 2315 C2362914 clinical depression 2316 C2350037 Clinically Isolated Syndrome, CNS Demyelinating 2317 C4551485 Clinodactyly dis_955 2318 C0265610 Clinodactyly of fingers 2319 C1850049 Clinodactyly of the 5th finger 2320 C0234535 Clonic Seizures 2321 C1860050 Cloverleaf skull 2322 C0520947 Clumsiness - motor delay 2323 C0009090 Cluttering 2324 C0007682 CNS disorder 2325 C1857662 COACH syndrome SMDE02580 216360 C1857662 2326 C0234374 Coarse Tremor 2327 C0431376 Cobblestone Lissencephaly 2328 C0009171 Cocaine Abuse 2329 C0600427 Cocaine Dependence dis_964 DIS00193 2330 C3496069 cocaine use 2331 C0009178 Cocaine withdrawal 2332 C0236701 Cocaine-induced mood disorder 2333 C0236736 Cocaine-Related Disorders dis_963 2334 C0009197 Cochlear Diseases 2335 C0009207 Cockayne Syndrome 2336 C0751039 Cockayne Syndrome, Type I 2337 C0751038 Cockayne Syndrome, Type II 2338 C0751037 Cockayne Syndrome, Type III 2339 C0751918 Cockayne-Pelizaeus-Merzbacher Disease 2340 C0079136 Cockayne-Touraine Disease 2341 C3150891 COCOON SYNDROME SMDE04008 613630 C3150891 2342 C1838180 CODAS syndrome SMDE04310 Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. C536434 600373 1458 Q87.8 C1838180 2343 C4517377 Coenzyme A synthase protein associated neurodegeneration 2344 C1843920 COENZYME Q10 DEFICIENCY 2345 C3551954 COENZYME Q10 DEFICIENCY, PRIMARY, 1 SMDE01995 607426 C3551954 2346 C3553354 COENZYME Q10 DEFICIENCY, PRIMARY, 2 SMDE02620 614651 C3553354 2347 C3553358 COENZYME Q10 DEFICIENCY, PRIMARY, 3 SMDE02355 614652 C3553358 2348 C3553374 COENZYME Q10 DEFICIENCY, PRIMARY, 5 SMDE00041 614654 C3553374 2349 C3553349 COENZYME Q10 DEFICIENCY, PRIMARY, 6 SMDE03362 614650 C3553349 2350 C4225392 COENZYME Q10 DEFICIENCY, PRIMARY, 7 SMDE02934 616276 C4225392 2351 C4225226 COENZYME Q10 DEFICIENCY, PRIMARY, 8 SMDE02646 616733 C4225226 2352 C0265252 Coffin-Lowry syndrome SMDE03243 Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. D038921 303600 192 Q87.0 C0265252 2353 C0265338 Coffin-Siris syndrome SMDE00076 Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. C536436 614608|614609|135900|614607|615866 1465 Q87.1 C0265338 2354 C3553249 COFFIN-SIRIS SYNDROME 4 SMDE04040 614609 C3553249 2355 C4310788 COFFIN-SIRIS SYNDROME 5 SMDE00880 616938 C4310788 2356 C4747954 COFFIN-SIRIS SYNDROME 7 2357 C3150876 COG5 congenital disorder of glycosylation 2358 C0009241 Cognition Disorders dis_968 2359 C3280415 COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA SMDE03055 614306 C3280415 2360 C0151564 Cogwheel Rigidity 2361 C0265223 Cohen syndrome SMDE02146 Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. C536438 216550 193 Q87.8 C0265223 2362 C4479654 COHEN-GIBSON SYNDROME 2363 C1861502 COLCHICINE RESISTANCE 2364 C0175816 Cold Hemagglutinin Disease 2365 C0086774 Cold paroxysmal hemoglobinuria 2366 C1848947 COLD-INDUCED SWEATING SYNDROME 1 SMDE02260 272430 C1848947|C1832409 2367 C1853198 COLD-INDUCED SWEATING SYNDROME 2 SMDE03580 610313 C1853198 2368 C1862178 Cole Carpenter syndrome 2369 C3809781 Cole disease SMDE04097 615522 C3809781 2370 C4317154 COLE-CARPENTER SYNDROME 1 SMDE02395 112240 C1862178 2371 C4225382 COLE-CARPENTER SYNDROME 2 SMDE04281 616294 C4225382 2372 C3888418 Colicky Pain 2373 C0009319 Colitis dis_978 DIS00198 2374 C1266044 Collecting Duct Carcinoma of the Kidney 2375 C3543867 Collodion Fetus 2376 C4708599 Coloboma of choroid and retina 2377 C0521573 Coloboma of eyelid 2378 C0344516 Coloboma of lens 2379 C0155299 Coloboma of optic disc 2380 C0795902 Coloboma, cleft lip-palate and mental retardation syndrome 2381 C4011974 COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE SMDE03658 216820 C4011974 2382 C3805432 COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION SMDE00786 120433 C3805432 2383 C4310625 COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 2384 C0699790 Colon Carcinoma 2385 C1257861 Colonic Inertia 2386 C0009375 Colonic Neoplasms dis_984 2387 C0009376 Colonic Polyps 2388 C0242225 Color blindness 2389 C0155018 Color Blindness, Acquired 2390 C0155017 Color Blindness, Blue 2391 C0239777 Color Blindness, Green 2392 C0751042 Color Blindness, Inherited 2393 C0155015 Color Blindness, Red 2394 C0155016 Color Blindness, Red-Green 2395 C0009398 Color vision defect 2396 C1837991 Colorectal Adenomatous Polyposis, Autosomal Recessive 2397 C2936783 Colorectal cancer, hereditary nonpolyposis, type 1 2398 C1838333 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 SMDE04632 614337 C1838333 2399 C1833477 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 SMDE04910 614350 C1833477 2400 C1860896 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 SMDE02416 614331 C1860896 2401 C1858380 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 (disorder) 2402 C2750471 COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 SMDE00077 613244 C2750471 2403 C1837315 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 2404 C2675481 COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 2405 C3554460 COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 2406 C2677290 COLORECTAL CANCER, SUSCEPTIBILITY TO, 4 2407 C2677291 COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 15 2408 C0009402 Colorectal Carcinoma 2409 C0009404 Colorectal Neoplasms dis_986 DIS00201 2410 C0394016 Coma, Post-Head Injury 2411 C0751812 Coma, Post-Traumatic, Prolonged 2412 C0009421 Comatose dis_988 2413 C2673536 Combined Cellular And Humoral Immune Defects With Granulomas SMDE03136 233650 C2673536 2414 C2746066 Combined D-2- and L-2-hydroxyglutaric aciduria SMDE04391 615182 C2746066 2415 C0494261 Combined immunodeficiency dis_989 2416 C4540434 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 2417 C3280314 Combined Malonic and Methylmalonic Aciduria SMDE01837 614265 C3280314 2418 C0268119 Combined molybdoflavoprotein enzyme deficiency 2419 C4540031 Combined oxidative phosphorylation deficiency 2420 C1836797 Combined Oxidative Phosphorylation Deficiency 1 SMDE01899 609060 C1836797 2421 C3553529 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 SMDE02890 614702 C3553529 2422 C3554067 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 SMDE00297 614922 C3554067 2423 C3554079 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 SMDE02344 614924 C3554079 2424 C3554129 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 SMDE03724 614932 C3554129 2425 C3554168 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 SMDE01495 614946 C3554168 2426 C3554182 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 SMDE03107 614947 C3554182 2427 C3809339 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 SMDE00347 615395 C3809339 2428 C3809526 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 SMDE00417 615440 C3809526 2429 C3810001 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 SMDE03636 615578 C3810001 2430 C3810055 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 SMDE03129 615595 C3810055 2431 C1864843 Combined Oxidative Phosphorylation Deficiency 2 SMDE05049 610498 C1864843 2432 C4014660 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 SMDE04112 615917 C4014660 2433 C4014668 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 SMDE04893 615918 C4014668 2434 C4015062 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 SMDE00126 616045 C4015062 2435 C4015447 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 SMDE00058 616198 C4015447 2436 C4015643 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 SMDE04373 616239 C4015643 2437 C4225329 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 SMDE03890 616430 C4225329 2438 C4225290 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 SMDE02482 616539 C4225290 2439 C4225251 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 SMDE00484 616672 C4225251 2440 C4225206 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 SMDE04063 616794 C4225206 2441 C4225200 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 SMDE03736 616811 C4225200 2442 C1864840 Combined Oxidative Phosphorylation Deficiency 3 SMDE02025 610505 C1864840 2443 C4310773 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 2444 C4310661 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 2445 C4540029 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 2446 C4540209 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 2447 C4693450 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 2448 C4693466 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 2449 C4693722 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 2450 C1857682 Combined Oxidative Phosphorylation Deficiency 4 SMDE02350 610678 C1857682 2451 C2673642 Combined Oxidative Phosphorylation Deficiency 5 SMDE01893 611719 C2673642 2452 C3151753 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 2453 C3150801 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 SMDE04681 613559 C3150801 2454 C3279793 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 SMDE04251 614096 C3279793 2455 C3281234 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 SMDE01383 614582 C3281234 2456 C2673635 Combined Saposin Deficiency SMDE04360 611721 C2673635 2457 C0009438 Common Bile Duct Calculi 2458 C0751635 Common Carotid Artery Stenosis 2459 C0750988 Common Carotid Artery Thrombosis 2460 C0338480 Common Migraine 2461 C0009447 Common Variable Immunodeficiency SMDE02121 Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria 613496|615577|613495|607594|614699|613493|613494 1572 C0009447 2462 C0009451 Communicating Hydrocephalus 2463 C0009492 Compartment syndromes 2464 C1257965 Compensatory Hyperinsulinemia 2465 C3150275 COMPLEMENT COMPONENT 2 DEFICIENCY SMDE02733 217000 C3150275 2466 C1332655 Complement component 3 deficiency 2467 C3151071 COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE SMDE01035 613779 C3151071 2468 C1852700 Complement Component 4, Partial Deficiency Of SMDE01163 120790 C1852700 2469 C3280642 Complement Component 4a Deficiency SMDE02285 614380 C3280642 2470 C0343047 Complement component 5 deficiency SMDE04279 609536 C0343047 2471 C2676232 Complement Component 6 Deficiency SMDE04905 612446 C2676233|C2676232 2472 C1864694 Complement Component 7 Deficiency SMDE01680 610102 C1864694 2473 C3151081 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I SMDE01123 613790 C3151081 2474 C3151080 COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II SMDE02979 613789 C3151080 2475 C3151078 Complement Component C1s Deficiency SMDE02035 613783 C3151078 2476 C0272242 Complement deficiency disease 2477 C3809950 COMPLEMENT FACTOR B DEFICIENCY SMDE02771 615561 C3809950 2478 C0398764 Complement Factor D Deficiency SMDE02076 613912 C0398764 2479 C0398777 Complement Factor H Deficiency SMDE02375 609814 C0398777 2480 C3463916 Complement Factor I (C3 inactivator) deficiency 2481 C4538570 COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY 2482 C0581883 Complete Hearing Loss 2483 C0678213 Complete hydatidiform mole 2484 C3839609 Complex craniosynostosis 2485 C0349578 Complex Endometrial Hyperplasia 2486 C0795887 Complex Glycerol Kinase Deficiency 2487 C0149958 Complex partial seizures 2488 C0393734 Complex Partial Status Epilepticus 2489 C0393556 Complicated hereditary spastic paraplegia 2490 C0342257 Complications of Diabetes Mellitus 2491 C0037926 Compression of spinal cord 2492 C0282313 Condition, Preneoplastic 2493 C0264886 Conduction disorder of the heart 2494 C0018777 Conductive hearing loss 2495 C0730290 Cone Dystrophy 2496 C1865869 CONE DYSTROPHY 3 (disorder) 2497 C2751308 CONE DYSTROPHY 4 (disorder) 2498 C0339537 Cone monochromatism 2499 C2931074 Cone rod dystrophy amelogenesis imperfecta 2500 C4085590 Cone-Rod Dystrophies 2501 C1846529 CONE-ROD DYSTROPHY 10 SMDE04403 610283 C1846529 2502 C1835865 Cone-Rod Dystrophy 11 SMDE04069 610381 C1835865 2503 C2675210 CONE-ROD DYSTROPHY 12 (disorder) 2504 C2750720 Cone-Rod Dystrophy 13 SMDE01930 608194 C2750720 2505 C3150912 CONE-ROD DYSTROPHY 15 SMDE00329 613660 C3552852|C3150912 2506 C3281045 CONE-ROD DYSTROPHY 16 SMDE00475 614500 C3281045|C4049066|C3281046 2507 C3809299 CONE-ROD DYSTROPHY 18 SMDE01134 615374 C3809299 2508 C4014501 CONE-ROD DYSTROPHY 19 SMDE03020 615860 C4014501 2509 C3489532 Cone-Rod Dystrophy 2 SMDE00789 120970 C0035334 2510 C4014856 CONE-ROD DYSTROPHY 20 SMDE00574 615973 C4014856 2511 C1858806 CONE-ROD DYSTROPHY 3 (disorder) 2512 C1832976 Cone-Rod Dystrophy 5 SMDE03989 600977 C1832976 2513 C1863634 Cone-Rod Dystrophy 7 SMDE02193 603649 C1863634 2514 C1423873 CONE-ROD DYSTROPHY 9 SMDE04400 612775 C1423873 2515 C4310657 CONE-ROD DYSTROPHY AND HEARING LOSS 2516 C2751764 CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) 2517 C1844776 CONE-ROD DYSTROPHY, X-LINKED, 1 SMDE00703 304020 C1844777|C1844776 2518 C1845407 CONE-ROD DYSTROPHY, X-LINKED, 3 SMDE01492 300476 C1845407 2519 C4041558 Cone-rod synaptic disorder, congenital nonprogressive SMDE01978 610427 C4041558 2520 C0009676 Confusion dis_1001 2521 C0000768 Congenital Abnormality 2522 C0035238 Congenital abnormality of respiratory system 2523 C2937220 Congenital abnormality of vein 2524 C0432357 Congenital absence of breast with absent nipple 2525 C1609433 Congenital absence of kidneys syndrome 2526 C0265780 Congenital absence of lung 2527 C1321907 Congenital absence of parathyroid gland 2528 C0265633 Congenital absence of tibia 2529 C0495499 Congenital absence, atresia and stricture of auditory canal (external) 2530 C0175755 Congenital absent nipple 2531 C0001627 Congenital adrenal hyperplasia dis_1003 2532 C0268292 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency SMDE05035 Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. C535978 202010 90795 E25.0 C0268292 2533 C2936858 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 2534 C3540662 Congenital Amaurosis of Retinal Origin 2535 C1327915 Congenital amegakaryocytic thrombocytopenia SMDE02330 Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. C535982 604498 3319 D61.0 C1327915 2536 C0345050 Congenital aneurysm of ascending aorta 2537 C4539968 CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY 2538 C0266617 Congenital anomaly of face 2539 C0266292 Congenital anomaly of the kidney 2540 C0393778 Congenital anosmia 2541 C0003857 Congenital arteriovenous malformation 2542 C0521802 Congenital atransferrinemia SMDE00953 Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. C538259 209300 1195 E88.0 C1859593|C0521802 2543 C4520983 Congenital atresia of extrahepatic bile duct 2544 C0403814 Congenital bilateral aplasia of vas deferens 2545 C0009691 Congenital cataract dis_1006 2546 C1858726 Congenital Cataracts, Facial Dysmorphism, And Neuropathy SMDE00584 604168 C1858726 2547 C3280965 CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION SMDE02842 614482 C3280965 2548 C4302200 Congenital central hypothyroidism 2549 C4511136 Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency 2550 C1275808 Congenital central hypoventilation 2551 C0852975 Congenital cerebellar ataxia 2552 C0553767 Congenital Cerebral Palsy 2553 C0267662 Congenital chloride diarrhea 2554 C0008626 Congenital chromosomal disease 2555 C0009081 Congenital clubfoot 2556 C0266551 Congenital coloboma of iris 2557 C0220668 Congenital contractural arachnodactyly SMDE00862 Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. C536211 121050 115 Q68.8 C0220668 2558 C0332878 Congenital contracture 2559 C4225398 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY SMDE01193 616266 C4225398 2560 C2931779 Congenital defect of skull and scalp 2561 C0340957 Congenital deficiency of intrinsic factor 2562 C0235833 Congenital diaphragmatic hernia SMDE03458 Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality. C538080 142340|610187|222400|306950 2140 Q79.0 C0235833 2563 C0265563 Congenital dislocation of radial head 2564 C0349653 Congenital disorder of glycosylation type 1A 2565 C1865145 Congenital disorder of glycosylation type 1B 2566 C2930997 Congenital disorder of glycosylation type 1C 2567 C2931001 Congenital disorder of glycosylation type 1G 2568 C2931002 Congenital disorder of glycosylation type 1H 2569 C2931004 Congenital disorder of glycosylation type 1J 2570 C2931005 Congenital disorder of glycosylation type 1K 2571 C2931006 Congenital disorder of glycosylation type 1L 2572 C4317224 Congenital disorder of glycosylation type 1q 2573 C3281084 Congenital disorder of glycosylation type 1r 2574 C4317295 Congenital disorder of glycosylation type 1s 2575 C3810062 Congenital disorder of glycosylation type 1w 2576 C2931007 Congenital disorder of glycosylation type 1X 2577 C4012395 Congenital disorder of glycosylation type 1y 2578 C2931008 Congenital disorder of glycosylation type 2A 2579 C2931009 Congenital disorder of glycosylation type 2D 2580 C2931010 Congenital disorder of glycosylation type 2E 2581 C4693905 CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2582 C0398739 Congenital disorder of glycosylation, type 2C 2583 C2931011 Congenital disorder of glycosylation, type 2G 2584 C4310727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa 2585 C1832736 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id SMDE00021 601110 C1832736 2586 C1837396 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie SMDE03260 608799 C1837396 2587 C1836669 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If SMDE03008 609180 C1836669 2588 C1842836 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii SMDE03282 607906 C1842836 2589 C1853736 Congenital Disorder Of Glycosylation, Type IIB SMDE04573 606056 C1853736 2590 C1970344 Congenital Disorder Of Glycosylation, Type IIF SMDE02359 603585 C1970344 2591 C1970021 Congenital Disorder Of Glycosylation, Type IIH SMDE03113 611182 C1970021 2592 C3150736 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj SMDE00340 613489 C3150736 2593 C3553230 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl SMDE01465 614576 C3553230 2594 C4225234 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn SMDE04664 616721 C4225234 2595 C4225191 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo SMDE00753 616828 C4225191 2596 C4225190 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp SMDE03617 616829 C4225190 2597 C4479353 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq 2598 C1835849 Congenital Disorder Of Glycosylation, Type Im SMDE02287 610768 C1835849 2599 C2677590 Congenital Disorder Of Glycosylation, Type In SMDE00827 612015 C2677590 2600 C2752007 Congenital Disorder of Glycosylation, Type Io SMDE00770 612937 C2752007 2601 C3150913 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip SMDE02135 613661 C3150913 2602 C3554385 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu SMDE02575 615042 C3554385 2603 C0282577 Congenital Disorders of Glycosylation 2604 C0002876 Congenital dyserythropoietic anemia 2605 C3150926 Congenital dyserythropoietic anemia type IV 2606 C0271933 Congenital dyserythropoietic anemia, type I 2607 C1306589 Congenital dyserythropoietic anemia, type II 2608 C0271934 Congenital dyserythropoietic anemia, type III 2609 C1744559 Congenital ectodermal dysplasia of face 2610 C1306503 Congenital exomphalos 2611 C0546264 Congenital Fiber Type Disproportion 2612 C1302995 Congenital Fibrosis of the Extraocular Muscles 2613 C0016508 Congenital Foot Deformity 2614 C1720862 Congenital Generalized Lipodystrophy Type 1 2615 C1720863 Congenital Generalized Lipodystrophy Type 2 2616 C0268186 Congenital glucose-galactose malabsorption 2617 C0018566 Congenital Hand Deformities 2618 C0018798 Congenital Heart Defects 2619 C4479250 CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA 2620 C4539857 CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 2621 C4479246 CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 2622 C3554279 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 SMDE00948 614980 C3554279 2623 C4014310 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 SMDE01649 615779 C4014310 2624 C4693563 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5 2625 C3151221 CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 2626 C0152021 Congenital heart disease 2627 C0235753 Congenital hemangioma 2628 C0265267 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects SMDE00765 308050 C0265267 2629 C0332890 Congenital hemihypertrophy 2630 C1562689 Congenital hereditary endothelial dystrophy 2631 C0265700 Congenital hernia of foramen of Bochdalek 2632 C0265699 Congenital hernia of foramen of Morgagni 2633 C0020256 Congenital Hydrocephalus 2634 C3888018 Congenital Hyperinsulinism 2635 C2584774 Congenital hypofibrinogenemia 2636 C3899503 Congenital hypogonadotropic hypogonadism 2637 C0393818 Congenital hypomyelinating neuropathy 2638 C0220766 Congenital hypoplasia of adrenal gland 2639 C0685381 Congenital hypoplasia of radius 2640 C0949116 Congenital hypoplastic anemia dis_1016 2641 C0010308 Congenital Hypothyroidism 2642 C0020758 Congenital ichthyosis 2643 C2746068 Congenital idiopathic intestinal pseudoobstruction 2644 C3661523 Congenital Intestinal Aganglionosis 2645 C0344530 Congenital keratoglobus 2646 C0266092 Congenital lip pits 2647 C2752042 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi SMDE00360 612918 C2752042 2648 C1141890 Congenital long QT syndrome 2649 C0265552 Congenital macrodactylia 2650 C1302790 Congenital malformation syndrome 2651 C1318558 Congenital melanocytic nevus 2652 C1332965 Congenital Mesoblastic Nephroma 2653 C0272087 Congenital Methemoglobinemia 2654 C2677180 Congenital microcephaly 2655 C3850155 Congenital Microtia 2656 C0699743 Congenital muscular dystrophy (disorder) 2657 C1802395 Congenital muscular hypertrophy-cerebral syndrome 2658 C0151491 Congenital musculoskeletal anomalies 2659 C1850792 Congenital myasthenic syndrome ib 2660 C0751883 Congenital Myasthenic Syndromes, Postsynaptic 2661 C0751884 Congenital Myasthenic Syndromes, Presynaptic 2662 C0270960 Congenital myopathy (disorder) 2663 C4706390 Congenital myopathy with myasthenic-like onset 2664 C0410226 Congenital Myotonic Dystrophy 2665 C0677501 Congenital Nephrogenic Diabetes Insipidus 2666 C0497552 Congenital neurologic anomalies 2667 C0340970 Congenital neutropenia dis_1021 2668 C4755251 Congenital neutropenia, myelofibrosis, nephromegaly syndrome 2669 C0079154 Congenital Nonbullous Ichthyosiform Erythroderma 2670 C0700501 Congenital nystagmus 2671 C0009363 Congenital ocular coloboma (disorder) 2672 C0795690 Congenital omphalocele 2673 C3645711 Congenital Osteopetrosis 2674 C0002768 Congenital Pain Insensitivity 2675 C0266468 Congenital pontocerebellar hypoplasia 2676 C3554226 Congenital pontocerebellar hypoplasia type 7 2677 C3554209 Congenital pontocerebellar hypoplasia type 8 2678 C0302892 Congenital porencephaly 2679 C0238506 Congenital posterior urethral valves 2680 C0266573 Congenital ptosis dis_1023 2681 C0241790 Congenital pulmonary arteriovenous malformation 2682 C3665704 Congenital reticular ichthyosiform erythroderma 2683 C0035353 Congenital retrognathism 2684 C0267663 Congenital secretory diarrhea, sodium type (disorder) 2685 C0152423 Congenital small ears 2686 C0752282 Congenital Structural Myopathy 2687 C1305147 Congenital supravalvular aortic stenosis 2688 C2930896 Congenital thrombotic disease, due to Protein C deficiency 2689 C1268935 Congenital Thrombotic Thrombocytopenic Purpura 2690 C0266539 Congenital total cataract 2691 C1860446 Congenital vertical talus, bilateral 2692 C0018802 Congestive heart failure dis_1027 DIS00203 2693 C0376323 Congestive Ophthalmopathy 2694 C0521757 Conjugate Nystagmus 2695 C0009759 Conjunctival Diseases 2696 C0009777 Conn Adenoma 2697 C1384514 Conn Syndrome 2698 C0009782 Connective Tissue Diseases 2699 C0795907 CONOTRUNCAL ANOMALY FACE SYNDROME 2700 C1857586 CONOTRUNCAL HEART MALFORMATIONS (disorder) 2701 C0009806 Constipation dis_1036 2702 C4321324 Constitutional Mismatch Repair Deficiency Syndrome 2703 C2350875 Constrictive Bronchiolitis 2704 C0011616 Contact Dermatitis 2705 C0162351 Contact hypersensitivity 2706 C1845408 Contiguous Abcd1-Dxs1375e Deletion Syndrome 2707 C1834559 Continuous Muscle Fiber Activity, Hereditary 2708 C0234371 Continuous Tremor 2709 C0009917 Contracture 2710 C0009918 Contracture of joint 2711 C0742803 Conus Medullaris Syndrome 2712 C0279702 Conventional (Clear Cell) Renal Cell Carcinoma 2713 C0521759 Convergence Nystagmus 2714 C4048158 Convulsions dis_1043 DIS00204 2715 C4551769 Convulsions, Benign Familial Infantile, 1 2716 C0751494 Convulsive Seizures 2717 C0002875 Cooley's anemia 2718 C1876165 Copper-Overload Cirrhosis 2719 C1392104 Coralliform cataract 2720 C1857574 CORNEA PLANA 2 2721 C0010034 Corneal Diseases 2722 C1857572 CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS SMDE02885 217400 C1857572 2723 C1864738 Corneal Dystrophy, Congenital Stromal SMDE00720 610048 C1864738 2724 C0521723 Corneal dystrophy, epithelial basement membrane SMDE03677 121820 C0521723 2725 C1850959 Corneal dystrophy, Fuchs' endothelial, 1 2726 C2750451 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 2727 C2750450 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 SMDE03535 613268 C2750450 2728 C2750448 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 SMDE02225 613270 C2750448 2729 C3809798 CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 SMDE02818 615523 C3809798 2730 C0339277 Corneal Dystrophy, Juvenile Epithelial of Meesmann 2731 C0339273 Corneal dystrophy, Lattice type 3 2732 C1837974 Corneal Dystrophy, Lattice Type IIIA SMDE00474 608471 C1837974 2733 C1852795 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 SMDE02569 609140 C1852795 2734 C1836724 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3 (disorder) 2735 C4747961 CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 2736 C1852555 CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 2737 C1857569 CORNEAL ENDOTHELIAL DYSTROPHY 2 2738 C0085109 Corneal Neovascularization dis_1048 2739 C0010038 Corneal Opacity 2740 C0349702 Corneal Scar 2741 C0010043 Corneal Ulcer 2742 C0270972 Cornelia De Lange Syndrome SMDE02453 Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.). D003635 122470|614|300882|610759|300590 199 Q87.1 C0270972 2743 C4551851 Cornelia de Lange Syndrome 1 SMDE05043 122470 C0270972 2744 C1853099 Cornelia de Lange Syndrome 3 SMDE02253 610759 C1853099 2745 C3553517 CORNELIA DE LANGE SYNDROME 4 SMDE04507 614701 C3553517 2746 C3550903 CORNELIA DE LANGE SYNDROME 5 2747 C1856266 Coronal craniosynostosis 2748 C4280330 Coronal synostosis 2749 C0010051 Coronary Aneurysm 2750 C0010054 Coronary Arteriosclerosis 2751 C1956346 Coronary Artery Disease dis_1051 DIS00205 2752 C1970440 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 (disorder) 2753 C1842247 CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 2754 C0010073 Coronary Artery Vasospasm 2755 C0010068 Coronary heart disease dis_1055 DIS00207 2756 C0948480 Coronary Restenosis 2757 C0242231 Coronary Stenosis 2758 C0010072 Coronary Thrombosis dis_1057 2759 C0010074 Coronary Vessel Anomalies 2760 C0795950 Corpus callosum agenesis neuronopathy 2761 C3179058 Corpus Callosum Malformation 2762 C4225193 CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA SMDE01523 616819 C4225193 2763 C0796184 Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence 2764 C1845446 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia SMDE00314 300472 C1845446 2765 C1839909 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED SMDE00879 304100 C1839909 2766 C0010093 Corpus Luteum Cyst 2767 C0020497 Cortical Congenital Hyperostosis 2768 C0431380 Cortical Dysplasia dis_1059 2769 C4552043 Cortical dysplasia with focal epilepsy syndrome 2770 C3808397 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 SMDE04957 614039 C3808397 2771 C3809013 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 SMDE02048 615282 C3809013 2772 C3809414 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 SMDE00485 615411 C3809414 2773 C3809420 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 SMDE02698 615412 C3809420 2774 C3810407 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 SMDE04103 615763 C3810407 2775 C4014283 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 SMDE01473 615771 C4014283 2776 C3552236 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 SMDE02292 610031 C3552236 2777 C4748540 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 2778 C2748861 Cortical malformations 2779 C3279875 CORTICAL MALFORMATIONS, OCCIPITAL SMDE03695 614115 C3279875 2780 C4021568 Cortical pulverulent cataract dis_1061 2781 C4048268 Cortical visual impairment 2782 C1852529 Corticosteroid-Binding Globulin Deficiency SMDE01463 611489 C1852529|C1969107 2783 C0268293 Corticosterone Methyl Oxidase Type I Deficiency 2784 C3463917 Corticosterone Methyl Oxidase Type II Deficiency 2785 C0270755 Corticostriatal-Spinal Degeneration 2786 C1291245 Cortisone reductase deficiency 2787 C3551716 CORTISONE REDUCTASE DEFICIENCY 1 SMDE01395 604931 C3551716 2788 C0587248 Costello syndrome (disorder) 2789 C0010200 Coughing 2790 C0750384 Coumarin Resistance SMDE03195 122700 C0750384|C2608079|C2675747 2791 C0795910 COWCHOCK SYNDROME 2792 C3554517 COWDEN SYNDROME 4 SMDE03518 615107 C3554517 2793 C3554518 COWDEN SYNDROME 5 SMDE02052 615108 C3554518 2794 C3554519 COWDEN SYNDROME 6 SMDE03301 615109 C3554519 2795 C4225179 COWDEN SYNDROME 7 SMDE03766 616858 C4225179 2796 C2973787 Coxiella burnetii Infection 2797 C0010246 Coxsackievirus Infections 2798 C0410539 Craniodiaphyseal dysplasia SMDE00323 Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. 122860|218300 1513 M85.2 C0410539 2799 C2675746 CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 2800 C0432235 CRANIOECTODERMAL DYSPLASIA 1 SMDE03268 218330 C0432235 2801 C3150874 CRANIOECTODERMAL DYSPLASIA 2 SMDE02612 613610 C3150874 2802 C3279807 CRANIOECTODERMAL DYSPLASIA 3 SMDE03492 614099 C3279807 2803 C3280616 CRANIOECTODERMAL DYSPLASIA 4 SMDE02900 614378 C3280616 2804 C0376634 Craniofacial Abnormalities 2805 C3280099 CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME SMDE02010 614195 C3280099 2806 C1852510 Craniofacial deafness hand syndrome 2807 C0010273 Craniofacial Dysostosis 2808 C2931196 Craniofacial dysostosis type 1 2809 C4303860 Craniofacial ulnar renal syndrome 2810 C0220767 Craniofrontonasal dysplasia SMDE04889 Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooveed or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism. C536456 304110 1520 Q87.1 C0220767 2811 C1843042 Craniolenticulosutural Dysplasia SMDE00980 Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. 607812 50814 Q75.8 C1843042 2812 C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT SMDE01419 123000 C1852502 2813 C2931244 Craniometaphyseal dysplasia, autosomal recessive type 2814 C2678439 CRANIOOSTEOARTHROPATHY 2815 C0010276 Craniopharyngioma dis_1070 SMDE00524 2816 C0751061 Craniopharyngioma, Child 2817 C0152426 Craniorachischisis SMDE01039 Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. 63260 Q00.1 C0152426 2818 C0265541 Cranioschisis 2819 C0010278 Craniosynostosis 2820 C3715051 CRANIOSYNOSTOSIS 3 SMDE04207 615314 C3715051 2821 C3806917 CRANIOSYNOSTOSIS 4 SMDE05172 600775 C3806917 2822 C3809819 CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO 2823 C4225269 CRANIOSYNOSTOSIS 6 SMDE03254 616602 C4225269 2824 C4479496 CRANIOSYNOSTOSIS 7 2825 C3280073 CRANIOSYNOSTOSIS AND DENTAL ANOMALIES SMDE00886 614188 C3280073 2826 C4551902 Craniosynostosis, Type 1 2827 C1858160 CRANIOSYNOSTOSIS, TYPE 2 2828 C0556385 Craving for alcohol 2829 C1845862 Creatine deficiency, X-linked 2830 C0241005 Creatine phosphokinase serum increased 2831 C0751021 Crescendo Transient Ischemic Attacks 2832 C0206138 CREST Syndrome 2833 C0022336 Creutzfeldt-Jakob disease SMDE02284 123400 C0376329|C1969957|C0751254|C1852467|C0022336 2834 C0751254 Creutzfeldt-Jakob Disease, Familial 2835 C1969957 Creutzfeldt-Jakob Disease, Heidenhain Variant 2836 C1852467 Creutzfeldt-Jakob Disease, Sporadic 2837 C0010314 Cri-du-Chat Syndrome 2838 C0010324 Crigler Najjar syndrome, type 1 2839 C2931132 Crigler Najjar syndrome, type 2 2840 C1832409 Crisponi syndrome SMDE01570 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. C536214 601378 1545 G90.8 C1832409 2841 C4310742 CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 2842 C0010346 Crohn Disease 2843 C0156147 Crohn's disease of large bowel 2844 C0267380 Crohn's disease of the ileum 2845 C0282207 Cronkhite-Canada Syndrome 2846 C2677099 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 2847 C0010398 Cruveilhier-Baumgarten Syndrome 2848 C1837206 Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 2849 C2316212 Cryopyrin-Associated Periodic Syndromes 2850 C0524611 Cryptogenic Chronic Hepatitis 2851 C0393698 Cryptogenic Infantile Spasms 2852 C4302263 Cryptogenic multifocal ulcerous stenosing enteritis 2853 C0751640 Cryptogenic Partial Complex Epilepsy 2854 C0271527 Cryptogenic sexual precocity 2855 C0751117 Cryptogenic Tonic-Clonic Epilepsy 2856 C0265233 Cryptophthalmos syndrome 2857 C1852453 Cryptophthalmos, Unilateral or Bilateral, Isolated 2858 C0010417 Cryptorchidism dis_1075 2859 C4728035 CTLA4 deficiency 2860 C4015214 CTLA4 Haploinsufficiency 2861 C4014479 CULLER-JONES SYNDROME SMDE04410 615849 C4014479 2862 C0010474 Curling Ulcer 2863 C0406733 Curly hair-ankyloblepharon-nail dysplasia syndrome 2864 C1531773 Currarino triad SMDE00434 Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae). C536221 176450 1552 Q87.8 C1531773 2865 C0037932 Curvature of spine 2866 C0010481 Cushing Syndrome 2867 C0002991 Cutaneous Fibrous Histiocytoma 2868 C3549861 Cutaneous leiomyosarcoma (less common) 2869 C4283859 Cutaneous Malignant Melanoma 2 2870 C1136033 Cutaneous Mastocytosis 2871 C0151779 Cutaneous Melanoma dis_1085 2872 C1861921 Cutaneous syndactyly 2873 C3281203 CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL SMDE01709 614564 C3281203 2874 C1852406 Cutis Gyrata Syndrome of Beare And Stevenson 2875 C0010495 Cutis Laxa dis_1090 2876 C2750804 Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities 2877 C0268350 Cutis Laxa, Autosomal Dominant 2878 C3276539 CUTIS LAXA, AUTOSOMAL DOMINANT 1 SMDE01101 123700 C3276539 2879 C4225268 CUTIS LAXA, AUTOSOMAL DOMINANT 3 SMDE01554 616603 C4225268 2880 C0268351 Cutis Laxa, Autosomal Recessive, Type I 2881 C3280798 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB SMDE04023 614437 C3280798 2882 C0268355 Cutis Laxa, Autosomal Recessive, Type IIA SMDE04082 219200 C0268355 2883 C2751987 Cutis Laxa, Autosomal Recessive, Type IIB SMDE02489 612940 C2751987 2884 C4479387 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC 2885 C4479409 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID 2886 C3280799 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB SMDE02160 614438 C3280799 2887 C2931134 Cutis laxa, recessive 2888 C0432336 Cutis laxa, recessive, type I 2889 C0268353 Cutis laxa, x-linked 2890 C0345419 Cutis marmorata telangiectatica congenita dis_1092 2891 C1854061 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 2892 C0010520 Cyanosis 2893 C3151421 CYANOSIS, TRANSIENT NEONATAL SMDE02320 613977 C3151421 2894 C3671688 Cyclic Hematopoesis 2895 C0221023 Cyclic neutropenia dis_1093 SMDE02483 2896 C0266667 Cyclocephaly 2897 C0010709 Cyst 2898 C3495552 Cystathionase Deficiency 2899 C0751202 Cystathionine beta-Synthase Deficiency Disease 2900 C0220993 Cystathioninuria dis_1094 SMDE05161 2901 C4553297 Cystic Echinocccosis 2902 C0010674 Cystic Fibrosis dis_1096 SMDE02786 DIS00219 2903 C1859047 CYSTIC FIBROSIS MODIFIER 1 2904 C0022679 Cystic kidney 2905 C1857423 Cystic Kidney Disease with Ventriculomegaly 2906 C1691228 Cystic Kidney Diseases 2907 C4551631 Cystic liver disease dis_1099 2908 C0392775 Cystic medial necrosis of aorta 2909 C4316899 Cystinosis 2910 C2749685 CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) 2911 C2931013 Cystinosis, benign, nonnephropathic 2912 C0010691 Cystinuria dis_1102 SMDE02714 2913 C1857388 Cystinuria, Type A 2914 C1857389 Cystinuria, Type B 2915 C0010692 Cystitis DIS00220 2916 C0268237 Cytochrome-c Oxidase Deficiency 2917 C0010823 Cytomegalovirus Infections 2918 C0342735 Cytosolic acetoacetyl-CoA thiolase deficiency 2919 C0750970 Cytotoxic Brain Edema 2920 C0472388 Cytotoxic Cerebral Edema 2921 C1836683 Czech dysplasia, metatarsal type 2922 C3152055 D-2-HYDROXYGLUTARIC ACIDURIA 1 SMDE00632 600721 C3152055 2923 C3150909 D-2-HYDROXYGLUTARIC ACIDURIA 2 SMDE01441 613657 C3150909 2924 C0796254 DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES 2925 C0010964 Dandy-Walker Syndrome 2926 C3887633 Dandy-Walker Syndrome, Familial 2927 C0234381 Darkness Tremor 2928 C0268354 De Barsy syndrome 2929 C1850555 De La Chapelle Dysplasia 2930 C0265201 De Sanctis-Cacchione syndrome SMDE01085 278800 C0265201 2931 C1857395 De Toni-Debre-Fanconi Syndrome 2932 C1282908 De Vaal's syndrome 2933 C4082305 Deaf Mutism 2934 C0011053 Deafness dis_1109 2935 C3549665 Deafness (in some patients) 2936 C3806275 DEAFNESS AND MYOPIA SMDE00758 221200 C3806275 2937 C1856186 Deafness enamel hypoplasia nail defects 2938 C0751068 Deafness, Acquired 2939 C1838854 DEAFNESS, AMINOGLYCOSIDE-INDUCED SMDE01964 580000 C1838854 2940 C1852282 DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 2941 C1832476 Deafness, Autosomal Dominant 10 SMDE03248 601316 C1832476 2942 C1832475 Deafness, Autosomal Dominant 11 SMDE01676 601317 C1832475 2943 C1832187 Deafness, Autosomal Dominant 12 SMDE01272 601543 C1832187 2944 C1866095 Deafness, Autosomal Dominant 13 SMDE04741 601868 C1866095 2945 C1865366 Deafness, Autosomal Dominant 15 SMDE02966 602459 C1865366 2946 C1863659 DEAFNESS, AUTOSOMAL DOMINANT 17 SMDE03998 603622 C1863659|C1863660 2947 C1858172 Deafness, Autosomal Dominant 20 SMDE04016 604717 C1858172 2948 C3149009 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY 2949 C1854594 DEAFNESS, AUTOSOMAL DOMINANT 23 SMDE02841 605192 C1854594 2950 C1854158 DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) 2951 C3887929 DEAFNESS, AUTOSOMAL DOMINANT 27 2952 C1837640 Deafness, Autosomal Dominant 28 SMDE00332 608641 C1837640 2953 C2677637 Deafness, Autosomal Dominant 2A SMDE03202 600101 C2677637 2954 C2675236 Deafness, Autosomal Dominant 2B SMDE04215 612644 C2675236 2955 C4521680 DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 2956 C1847626 Deafness, Autosomal Dominant 36 SMDE04150 606705 C1847626 2957 C1854146 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 SMDE03878 605594 C1854146 2958 C2675750 DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 2959 C2675237 Deafness, Autosomal Dominant 3B SMDE04991 612643 C2675237 2960 C1833503 Deafness, Autosomal Dominant 4 2961 C4084708 DEAFNESS, AUTOSOMAL DOMINANT 40 SMDE02631 616357 C4084708 2962 C1842371 DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder) 2963 C1843895 Deafness, Autosomal Dominant 44 SMDE03865 607453 C1843895 2964 C1842939 Deafness, Autosomal Dominant 48 SMDE01064 607841 C1842939 2965 C3281297 DEAFNESS, AUTOSOMAL DOMINANT 4B SMDE00062 614614 C3281297 2966 C1832932 DEAFNESS, AUTOSOMAL DOMINANT 5 (disorder) 2967 C3888123 DEAFNESS, AUTOSOMAL DOMINANT 50 SMDE02935 613074 C3888123 2968 C3810170 DEAFNESS, AUTOSOMAL DOMINANT 56 SMDE01097 615629 C3810170 2969 C1833021 DEAFNESS, AUTOSOMAL DOMINANT 6 SMDE00558 600965 C1833021 2970 C3279948 DEAFNESS, AUTOSOMAL DOMINANT 64 SMDE03101 614152 C3279948 2971 C3892048 DEAFNESS, AUTOSOMAL DOMINANT 65 SMDE04321 616044 C3892048 2972 C4283893 DEAFNESS, AUTOSOMAL DOMINANT 66 SMDE00391 616969 C4283893 2973 C4084712 DEAFNESS, AUTOSOMAL DOMINANT 67 SMDE02026 616340 C4084712 2974 C4225240 DEAFNESS, AUTOSOMAL DOMINANT 68 2975 C4225241 DEAFNESS, AUTOSOMAL DOMINANT 69 2976 C4310775 DEAFNESS, AUTOSOMAL DOMINANT 70 SMDE03222 616968 C4310775 2977 C4539881 DEAFNESS, AUTOSOMAL DOMINANT 71 2978 C4539886 DEAFNESS, AUTOSOMAL DOMINANT 72 2979 C4748334 DEAFNESS, AUTOSOMAL DOMINANT 74 2980 C1832425 Deafness, Autosomal Dominant 9 SMDE01067 601369 C1832425 2981 C2931716 Deafness, autosomal dominant nonsyndromic sensorineural 17 2982 C2931767 Deafness, autosomal dominant nonsyndromic sensorineural 22 2983 C3148751 DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY 2984 C1846647 DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 2985 C3892049 DEAFNESS, AUTOSOMAL RECESSIVE 101 SMDE05122 615837 C3892049 2986 C3892050 DEAFNESS, AUTOSOMAL RECESSIVE 102 SMDE01644 615974 C3892050 2987 C4015050 DEAFNESS, AUTOSOMAL RECESSIVE 103 SMDE04367 616042 C4015050 2988 C4225298 DEAFNESS, AUTOSOMAL RECESSIVE 104 SMDE01344 616515 C4225298 2989 C4539954 DEAFNESS, AUTOSOMAL RECESSIVE 106 2990 C4539964 DEAFNESS, AUTOSOMAL RECESSIVE 107 2991 C4539997 DEAFNESS, AUTOSOMAL RECESSIVE 108 2992 C4693935 DEAFNESS, AUTOSOMAL RECESSIVE 109 2993 C4748374 DEAFNESS, AUTOSOMAL RECESSIVE 111 2994 C1832394 Deafness, Autosomal Recessive 12 SMDE03635 601386 C1832394 2995 C1866094 DEAFNESS, AUTOSOMAL RECESSIVE 15 SMDE01951 601869 C1866094 2996 C1863561 Deafness, Autosomal Recessive 16 SMDE04219 603720 C1863561 2997 C1865870 Deafness, Autosomal Recessive 18 2998 C3554163 DEAFNESS, AUTOSOMAL RECESSIVE 18B SMDE04903 614945 C3554163 2999 C2673759 DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 3000 C2675235 Deafness, Autosomal Recessive 1b SMDE03450 612645 C2675235 3001 C1838701 DEAFNESS, AUTOSOMAL RECESSIVE 2 SMDE02082 600060 C1838701 3002 C1863655 Deafness, Autosomal Recessive 21 SMDE02213 603629 C1863655 3003 C1846896 Deafness, Autosomal Recessive 22 SMDE03502 607039 C1846896 3004 C1836027 Deafness, Autosomal Recessive 23 SMDE01373 609533 C1836027 3005 C1414017 DEAFNESS, AUTOSOMAL RECESSIVE 25 SMDE02726 613285 C1414017 3006 C1854275 DEAFNESS, AUTOSOMAL RECESSIVE 26 3007 C1853276 Deafness, Autosomal Recessive 28 SMDE03864 609823 C1853276 3008 C3279660 DEAFNESS, AUTOSOMAL RECESSIVE 29 SMDE02757 614035 C3279660 3009 C1838263 Deafness, Autosomal Recessive 3 SMDE03359 600316 C1838263 3010 C1846784 Deafness, Autosomal Recessive 30 SMDE02111 607101 C1846784 3011 C1846839 DEAFNESS, AUTOSOMAL RECESSIVE 31 SMDE04047 607084 C1846839 3012 C1837608 DEAFNESS, AUTOSOMAL RECESSIVE 32 3013 C1837857 DEAFNESS, AUTOSOMAL RECESSIVE 35 SMDE02257 608565 C1837857 3014 C1837007 DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT SMDE03287 609006 C3149566|C1837007 3015 C1843028 Deafness, Autosomal Recessive 37 SMDE02422 607821 C1843028 3016 C1842342 DEAFNESS, AUTOSOMAL RECESSIVE 39 (disorder) 3017 C3538946 DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT SMDE04673 600791 C3538946 3018 C1864818 DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 3019 C1857809 DEAFNESS, AUTOSOMAL RECESSIVE 44 SMDE05066 610154 C1857809 3020 C1836199 DEAFNESS, AUTOSOMAL RECESSIVE 48 SMDE03441 609439 C1836199 3021 C1857811 DEAFNESS, AUTOSOMAL RECESSIVE 49 SMDE03476 610153 C1857811 3022 C1864746 Deafness, Autosomal Recessive 53 SMDE00288 609706 C1864746 3023 C4693893 DEAFNESS, AUTOSOMAL RECESSIVE 57 3024 C1857744 DEAFNESS, AUTOSOMAL RECESSIVE 59 SMDE02731 610220 C1857744 3025 C1832992 DEAFNESS, AUTOSOMAL RECESSIVE 6 SMDE02381 600971 C1832992 3026 C3151230 DEAFNESS, AUTOSOMAL RECESSIVE 61 SMDE01367 613865 C3151230 3027 C1969621 DEAFNESS, AUTOSOMAL RECESSIVE 63 SMDE02167 611451 C1969621 3028 C1857750 DEAFNESS, AUTOSOMAL RECESSIVE 66 SMDE01025 610212 C1857750 3029 C1853223 Deafness, Autosomal Recessive 67 SMDE05005 610265 C1853223 3030 C1835854 DEAFNESS, AUTOSOMAL RECESSIVE 68 SMDE03368 610419 C1835854 3031 C1832978 Deafness, Autosomal Recessive 7 SMDE02633 600974 C1832978 3032 C1824925 DEAFNESS, AUTOSOMAL RECESSIVE 70 SMDE00101 614934 C1824925 3033 C2239351 DEAFNESS, AUTOSOMAL RECESSIVE 74 SMDE00993 613718 C2239351 3034 C3147083 DEAFNESS, AUTOSOMAL RECESSIVE 76 SMDE04203 615540 C3147083 3035 C2746083 DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 3036 C2750082 Deafness, Autosomal Recessive 79 SMDE00195 613307 C2750082 3037 C3150654 DEAFNESS, AUTOSOMAL RECESSIVE 84A SMDE00521 613391 C3150654 3038 C3554159 DEAFNESS, AUTOSOMAL RECESSIVE 84B SMDE03737 614944 C3554159 3039 C2829265 DEAFNESS, AUTOSOMAL RECESSIVE 86 SMDE00179 614617 C2829265 3040 C2829267 DEAFNESS, AUTOSOMAL RECESSIVE 88 SMDE02415 615429 C2829267 3041 C3151351 DEAFNESS, AUTOSOMAL RECESSIVE 89 SMDE05182 613916 C3151351 3042 C1832828 Deafness, Autosomal Recessive 9 SMDE04779 601071 C1832828|C1832830 3043 C3150704 DEAFNESS, AUTOSOMAL RECESSIVE 91 SMDE00884 613453 C3150704 3044 C3888355 DEAFNESS, AUTOSOMAL RECESSIVE 93 SMDE03485 614899 C3888355 3045 C4084709 DEAFNESS, AUTOSOMAL RECESSIVE 97 3046 C3553932 DEAFNESS, AUTOSOMAL RECESSIVE 98 SMDE04593 614861 C3553932 3047 C1970239 DEAFNESS, AUTOSOMAL RECESSIVE, 24 3048 C1832827 DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 3049 C1866053 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 3050 C0795927 Deafness, congenital onychodystrophy, recessive form 3051 C2675730 Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 3052 C1853144 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia SMDE02290 610706 C1853144 3053 C2673761 DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 3054 C2673760 DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) 3055 C3806634 DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION SMDE00672 300475 C1845408|C3806634 3056 C1854274 DEAFNESS, NONSYNDROMIC, MODIFIER 1 (disorder) 3057 C1857810 Deafness, prelingual, profound (affects all frequencies) 3058 C1970282 Deafness, profound, by 6th decade 3059 C1970187 Deafness, Sensorineural, And Male Infertility 3060 C1857332 Deafness, Sensorineural, Autosomal-Mitochondrial Type 3061 C1148477 Deafness, Sudden 3062 C1844677 DEAFNESS, X-LINKED 1 (disorder) 3063 C1848204 DEAFNESS, X-LINKED 4 (disorder) 3064 C1845095 DEAFNESS, X-LINKED 5 (disorder) 3065 C3806737 DEAFNESS, X-LINKED 6 SMDE02136 300914 C3806737 3066 C4746975 DEAFNESS, X-LINKED 7 3067 C4280715 Decreased level of plasminogen dis_1152 3068 C1857640 Decreased nerve conduction velocity 3069 C3280641 Decreased serum complement C4b dis_1188 3070 C1395264 Deep seated dermatophytosis 3071 C0149871 Deep Vein Thrombosis 3072 C1291422 Deficiency of 3-oxoacid CoA-transferase 3073 C1536500 Deficiency of acetyl-CoA acetyltransferase 3074 C1291564 Deficiency of aromatic-L-amino-acid decarboxylase 3075 C1291620 Deficiency of bisphosphoglycerate mutase 3076 C0342783 Deficiency of butyryl-CoA dehydrogenase 3077 C0268608 Deficiency of dihydrofolate reductase 3078 C0268160 Deficiency of fructokinase 3079 C0268155 Deficiency of galactokinase 3080 C2939465 Deficiency of glucose-6-phosphate dehydrogenase 3081 C1291560 Deficiency of glutamate decarboxylase 3082 C0268418 Deficiency of glycerol kinase 3083 C1291299 Deficiency of iodide peroxidase (disorder) 3084 C1291607 Deficiency of maleylacetoacetate isomerase 3085 C0342731 Deficiency of mevalonate kinase 3086 C0684324 Deficiency of phosphoglycerate kinase 3087 C1291463 Deficiency of phosphoserine phosphatase 3088 C2713537 Deficiency of Platelet Glycoprotein 1b 3089 C0268532 Deficiency of prolidase 3090 C0340968 Deficiency of pyruvate kinase 3091 C1291373 Deficiency of sedoheptulokinase 3092 C2718078 Deficiency of Uroporphyrinogen III Synthase 3093 C0019489 Deficiency, Hexosediphosphatase 3094 C2315229 Deformity of facial bone 3095 C0270715 Degenerative Diseases, Central Nervous System 3096 C0751733 Degenerative Diseases, Spinal Cord 3097 C2717759 Degenerative Intervertebral Discs 3098 C0029408 Degenerative polyarthritis dis_1226 3099 C0011168 Deglutition Disorders 3100 C4551512 DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA SMDE04142 194380 C0272051 3101 C4225242 DEHYDRATED HEREDITARY STOMATOCYTOSIS 2 SMDE04330 616689 C4225242 3102 C1863769 Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema 3103 C0011175 Dehydration dis_1227 3104 C0750921 Dejerine-Lichtheim Phenomenon 3105 C0011195 Dejerine-Sottas Disease (disorder) 3106 C0476241 Delayed developmental milestones 3107 C0520757 Delayed Emergence from Anesthesia 3108 C0020522 Delayed Hypersensitivity 3109 C0034012 Delayed Puberty 3110 C0393770 Delayed Sleep Phase Syndrome 3111 C0454644 Delayed speech and language development dis_1238 3112 C2931803 Deletion 11p13 3113 C0011206 Delirium dis_1239 DIS00224 3114 C0029227 Delirium, Dementia, Amnestic, Cognitive Disorders 3115 C0271985 Delta-Beta Thalassemia 3116 C0011251 Delusional disorder dis_1241 DIS00225 3117 C0497327 Dementia dis_1243 DIS00226 3118 C1861735 Dementia, familial Danish 3119 C0011269 Dementia, Vascular 3120 C0011303 Demyelinating Diseases 3121 C0011304 Demyelination 3122 C4303593 DEND syndrome SMDE01221 DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. 606176 79134 P70.2 C1853564 3123 C0011311 Dengue Fever 3124 C0376300 Dengue Shock Syndrome 3125 C1848336 Dent disease 1 SMDE01765 300009 C1848336 3126 C1845167 Dent Disease 2 SMDE00595 300555 C1845167 3127 C4305529 Dent disease type 2 3128 C1704330 Dental Diseases 3129 C0011351 Dental Enamel Hypoplasia 3130 C0751781 Dentatorubral-Pallidoluysian Atrophy SMDE01601 125370 C0751781|C2931846 3131 C0399380 Dentin dyspalsia, Shields type 2 3132 C0399379 Dentin dysplasia, type 1 3133 C0011436 Dentinogenesis Imperfecta 3134 C0399378 Dentinogenesis imperfecta - Shield's type III (disorder) 3135 C2973527 Dentinogenesis imperfecta without osteogenesis imperfecta 3136 C0878681 Dent's disease 3137 C0950121 Denys-Drash Syndrome SMDE02517 194080 C0950121 3138 C3711385 Deoxyguanosine Kinase Deficiency 3139 C0344315 Depressed mood dis_1254 3140 C3826462 Depression in children 3141 C0005587 Depression, Bipolar 3142 C0282126 Depression, Neurotic 3143 C0221074 Depression, Postpartum dis_1256 3144 C0011581 Depressive disorder dis_1257 DIS00229 3145 C2063866 Depressive Disorder, Treatment-Resistant dis_1258 3146 C0349217 Depressive episode, unspecified 3147 C0086132 Depressive Symptoms 3148 C0086133 Depressive Syndrome 3149 C0233754 Derealization 3150 C0011603 Dermatitis dis_1262 3151 C0162820 Dermatitis, Allergic Contact 3152 C0011615 Dermatitis, Atopic dis_1263 3153 C1853965 Dermatitis, Atopic, 2 3154 C0162823 Dermatitis, Irritant 3155 C0028796 Dermatitis, Occupational 3156 C0162824 Dermatitis, Photoallergic 3157 C0206647 Dermatofibrosarcoma 3158 C0392784 Dermatofibrosarcoma Protuberans SMDE01550 Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). C538219 607907 31112 C49.9 C0392784 3159 C0334454 Dermatofibrosarcoma Protuberans, Myxoid 3160 C0265514 Dermatofibrosis lenticularis disseminata 3161 C0037274 Dermatologic disorders 3162 C0011633 Dermatomyositis 3163 C0263666 Dermatomyositis, Childhood Type 3164 C0406778 Dermatopathia pigmentosa reticularis SMDE01418 125595 C0406778 3165 C1852146 DERMODISTORTIVE URTICARIA 3166 C4225239 DESANTO-SHINAWI SYNDROME SMDE00648 616708 C4225431|C4225239 3167 C4012146 DESBUQUOIS DYSPLASIA 1 SMDE03949 251450 C0432242|C4012146|C3278482 3168 C4014294 DESBUQUOIS DYSPLASIA 2 SMDE01915 615777 C4014294 3169 C0432242 Desbuquois syndrome SMDE01294 Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities C535943 251450|300881|615777 1425 Q78.8 C0432242 3170 C1851124 Desmoid disease, hereditary SMDE00402 135290 C2675440|C1851124 3171 C2675440 Desmoid Tumor Caused By Somatic Mutation 3172 C0751291 Desmoplastic Medulloblastoma 3173 C0281508 Desmoplastic Small Round Cell Tumor SMDE02045 Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. D058405 83469 C48.2 C0281508 3174 C1865596 Desmosterolosis SMDE04448 602398 C1865596 3175 C0079221 Determination of Death 3176 C3887938 Deuteranomaly 3177 C0399352 Developmental absence of tooth 3178 C1330966 Developmental Academic Disorder 3179 C4749915 Developmental and speech delay due to SOX5 deficiency SMDE04515 616803 313892 3180 C0011757 Developmental Coordination Disorder 3181 C0424605 Developmental delay (disorder) 3182 C4693376 DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES 3183 C4310801 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR 3184 C1853564 Developmental Delay, Epilepsy, and Neonatal Diabetes 3185 C4693860 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES 3186 C0008073 Developmental Disabilities dis_1273 3187 C1306065 DEVELOPMENTAL DYSPLASIA OF THE HIP 1 3188 C4082301 Developmental Porencephaly 3189 C0751456 Developmental Psychomotor Disorders 3190 C0920296 Developmental reading disorder 3191 C1836830 Developmental regression dis_1274 3192 C0011813 Dextrocardia 3193 C0342765 D-Glyceric aciduria SMDE04366 220120 C1291386|C3887877|C0342765 3194 C1291386 D-glycericacidemia 3195 C0011847 Diabetes dis_1278 3196 C0011848 Diabetes Insipidus dis_1279 DIS00233 3197 C0011849 Diabetes Mellitus dis_1281 DIS00234 3198 C0342277 Diabetes mellitus autosomal dominant type II (disorder) 3199 C0011853 Diabetes Mellitus, Experimental 3200 C0011854 Diabetes Mellitus, Insulin-Dependent 3201 C1866040 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 3202 C1832392 DIABETES MELLITUS, INSULIN-DEPENDENT, 12 3203 C1852092 DIABETES MELLITUS, INSULIN-DEPENDENT, 2 SMDE03412 125852 C1852092 3204 C2675866 DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 3205 C2675864 DIABETES MELLITUS, INSULIN-DEPENDENT, 22 (disorder) 3206 C1838260 DIABETES MELLITUS, INSULIN-DEPENDENT, 5 3207 C0342278 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 3208 C3837958 Diabetes Mellitus, Ketosis-Prone 3209 C1857775 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism SMDE00446 610199 C1857775 3210 C0011860 Diabetes Mellitus, Non-Insulin-Dependent dis_1283 3211 C1832544 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1 (disorder) 3212 C4015183 DIABETES MELLITUS, NONINSULIN-DEPENDENT, 5 3213 C1833104 DIABETES MELLITUS, PERMANENT NEONATAL SMDE00548 606176 C1833102|C1853564|C1833104 3214 C4554117 Diabetes Mellitus, Sudden-Onset 3215 C1832386 Diabetes Mellitus, Transient Neonatal, 1 SMDE03386 601410 C1832386 3216 C1835887 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) 3217 C1864623 DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 3218 C0205734 Diabetes, Autoimmune 3219 C0342289 Diabetes-deafness syndrome maternally transmitted (disorder) 3220 C0271685 Diabetic Amyotrophy 3221 C0011875 Diabetic Angiopathies 3222 C0393835 Diabetic Asymmetric Polyneuropathy 3223 C0271686 Diabetic Autonomic Neuropathy 3224 C0853897 Diabetic Cardiomyopathies 3225 C0011880 Diabetic Ketoacidosis dis_1293 3226 C0271678 Diabetic Mononeuropathy 3227 C0011881 Diabetic Nephropathy dis_1296 DIS00242 3228 C0751074 Diabetic Neuralgia 3229 C0011882 Diabetic Neuropathies 3230 C0271680 Diabetic Polyneuropathies 3231 C0011884 Diabetic Retinopathy dis_1299 DIS00244 3232 C0376338 Diagnosis, Psychiatric 3233 C2676137 Diamond-Blackfan Anemia 1 SMDE00984 105650 C2676137 3234 C2750080 Diamond-Blackfan Anemia 10 SMDE04222 613309 C2750080 3235 C3554042 DIAMOND-BLACKFAN ANEMIA 11 SMDE02190 614900 C3554042 3236 C3809888 DIAMOND-BLACKFAN ANEMIA 12 SMDE01218 615550 C3809888 3237 C4014641 DIAMOND-BLACKFAN ANEMIA 13 SMDE03500 615909 C4014641 3238 C4225422 DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS SMDE02293 300946 C4225422 3239 C4225411 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS SMDE04184 606164 C4225411 3240 C4479424 DIAMOND-BLACKFAN ANEMIA 16 3241 C4479428 DIAMOND-BLACKFAN ANEMIA 17 3242 C2675860 Diamond-Blackfan Anemia 4 SMDE02034 612527 C2675860 3243 C2675859 Diamond-Blackfan Anemia 5 SMDE04172 612528 C2675859 3244 C2675512 Diamond-Blackfan Anemia 7 SMDE01156 612562 C2675512 3245 C2675511 Diamond-Blackfan Anemia 8 SMDE02853 612563 C2675511 3246 C2750081 Diamond-Blackfan Anemia 9 SMDE03162 613308 C2750081 3247 C4693556 DIAMOND-BLACKFAN ANEMIA-LIKE 3248 C1842691 Diaphanospondylodysostosis SMDE03841 Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. 608022 66637 Q78.8 C1842691 3249 C0019284 Diaphragmatic Hernia 3250 C1857781 Diaphragmatic Hernia 3 SMDE04583 610187 C1857781 3251 C1300202 Diaphyseal medullary stenosis with bone malignancy 3252 C1862177 Diaphyseal medullary stenosis with malignant fibrous histiocytoma 3253 C0011991 Diarrhea dis_1307 DIS00246 3254 C4748579 DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE 3255 C1835888 Diarrhea 4, Malabsorptive, Congenital SMDE01972 610370 C1835888 3256 C2750737 DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL SMDE01907 613217 C2750737 3257 C3553270 DIARRHEA 6 SMDE05016 614616 C3553270 3258 C4014516 DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE 3259 C0011999 Diastematomyelia 3260 C0220726 Diastrophic dysplasia SMDE04038 222600 C0220726|C1857255 3261 C1857255 Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant 3262 C1857253 Dicarboxylicaminoaciduria 3263 C3839822 DICER1 syndrome 3264 C0280785 Diffuse Astrocytoma 3265 C0007795 Diffuse Cerebral Sclerosis of Schilder 3266 C0079744 Diffuse Large B-Cell Lymphoma dis_1321 3267 C0268747 Diffuse mesangial sclerosis (disorder) 3268 C0079757 Diffuse Mixed-Cell Lymphoma 3269 C4755309 Diffuse palmoplantar keratoderma with painful fissures 3270 C1838359 Diffuse palmoplantar keratoderma, Bothnian type 3271 C0878555 Diffuse panbronchiolitis 3272 C1258104 Diffuse Scleroderma 3273 C0012236 DiGeorge Syndrome SMDE00556 188400 C0012236|C1861129|C1414025 3274 C0751115 Digestive Epilepsy 3275 C0012243 Digestive System Neoplasms 3276 C1847406 Digital Arthropathy-Brachydactyly, Familial SMDE00124 606835 C1847406 3277 C0795934 Digitorenocerebral Syndrome 3278 C1852085 Digitotalar Dysmorphism SMDE00713 Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with nofacial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term). 614335|108120|616266|126050 1146 Q68.8 C0220662|C1852085 3279 C0342803 Dihydropyrimidinase deficiency SMDE04181 222748 C3495551|C0342803 3280 C1959620 Dihydropyrimidine Dehydrogenase Deficiency SMDE03094 274270 C0274576|C1959620 3281 C3495551 Dihydropyrimidinuria 3282 C0265004 Dilatation of aorta 3283 C0549253 Dilatation of the bladder 3284 C1853892 Dimethylglycine Dehydrogenase Deficiency SMDE00946 Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. 605850 243343 E72.5 C1853892 3285 C0154695 Diplegic Infantile Cerebral Palsy 3286 C1565885 Direct Hyperbilirubinemia, Neonatal 3287 C0235874 Disease Exacerbation 3288 C0015397 Disorder of eye 3289 C0029132 Disorder of the optic nerve 3290 C0032708 Disorders of Porphyrin Metabolism 3291 C0036875 Disorders of Sex Development 3292 C0878659 Disproportionate short stature 3293 C1836996 Disproportionate tall stature 3294 C0012734 Disruptive Behavior Disorder 3295 C0021122 Disruptive, Impulse Control, and Conduct Disorders 3296 C0340643 Dissection of aorta 3297 C4277533 Dissection, Blood Vessel 3298 C0012739 Disseminated Intravascular Coagulation dis_1343 DIS00256 3299 C0155380 Dissociated Nystagmus 3300 C0236795 Dissociative Amnesia 3301 C4707092 Distal 17p13.3 microdeletion syndrome 3302 C0265213 Distal arthrogryposis syndrome 3303 C3554415 Distal arthrogryposis type 5D 3304 C4749653 Distal hereditary motor neuropathy type 7 3305 C3711384 Distal Hereditary Motor Neuropathy, Type II 3306 C4749581 Distal monosomy 12p 3307 C4273897 Distal monosomy 1q SMDE01042 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. 612337 36367 Q93.5 3308 C2675205 Distal muscle atrophy due to neurologic disease 3309 C0751336 Distal Muscular Dystrophies 3310 C4552004 Distal Myopathy 1 3311 C1704380 Distal Renal Tubular Acidosis dis_1350 3312 C4302514 Distal renal tubular acidosis co-occurrent with sensorineural deafness 3313 C1847584 Distal sensory impairment dis_1351 3314 C0393541 Distal Spinal Muscular Atrophy 3315 C0877848 Distorted hearing 3316 C2939186 Disturbance in mood 3317 C4505353 Diverticular Bleeding 3318 C4317009 Diverticular Diseases 3319 C0012813 Diverticulitis 3320 C0220761 Dizygotic twins (disorder) 3321 C3668940 Dmd-Associated Dilated Cardiomyopathy 3322 C4016019 DNA Ligase I Deficiency 3323 C0268134 DNA Repair-Deficiency 3324 C1563696 DNA Repair-Deficiency Disorders 3325 C0432322 Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 3326 C1857277 Donnai-Barrow syndrome SMDE02130 Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. C536390 222448 2143 Q87.8 C1857277 3327 C0265344 Donohue Syndrome SMDE03098 246200 C0271689|C0265344 3328 C0342687 dopamine beta hydroxylase deficiency 3329 C1851920 Dopa-Responsive Dystonia 3330 C1855276 Dorsolateral bowed, short radii 3331 C1848296 DOSAGE-SENSITIVE SEX REVERSAL 3332 C0013069 Double Outlet Right Ventricle 3333 C1956410 Double Outlet Right Ventricle, Noncommitted VSD 3334 C1956411 Double Outlet Right Ventricle, Subaortic VSD 3335 C1956412 Double Outlet Right Ventricle, Subpulmonary VSD 3336 C1852022 Doughnut Lesions of Skull, Familial 3337 C3714534 dowling-degos disease 3338 C4552092 Dowling-Degos disease 1 SMDE02610 179850 C3714534 3339 C3809147 DOWLING-DEGOS DISEASE 2 SMDE02346 615327 C3809147 3340 C3810313 DOWLING-DEGOS DISEASE 4 SMDE05155 615696 C3810313 3341 C0013080 Down Syndrome SMDE04244 190685 C1860788|C1860787|C1860789|C0013080|C1860786 3342 C0432416 Down Syndrome, Partial Trisomy 21 3343 C1832174 DOYNE HONEYCOMB RETINAL DYSTROPHY SMDE00638 126600 C1852021|C1832174|C1852020 3344 C0234529 Dressing Apraxia 3345 C0013132 Drooling dis_1360 3346 C0013146 Drug abuse 3347 C0013182 Drug Allergy dis_1364 3348 C1510472 Drug Dependence dis_1365 DIS00258 3349 C0011609 Drug Eruptions 3350 C0013170 Drug habituation 3351 C4693948 DRUG METABOLISM, ALTERED, CYP2C8-RELATED 3352 C1836023 Drug Metabolism, Poor, CYP2C19-Related SMDE02303 609535 C2674941|C1836023|C4225437|C1836026|C1836024 3353 C1837154 Drug Metabolism, Poor, CYP2D6-Related 3354 C0029944 Drug Overdose 3355 C1096063 Drug Resistant Epilepsy 3356 C0013221 Drug toxicity DIS00259 3357 C0013222 Drug Use Disorders 3358 C0086189 Drug Withdrawal Symptoms 3359 C3658290 Drug-Induced Acute Liver Injury 3360 C0338715 Drug-induced depressive state dis_1362 3361 C0860207 Drug-Induced Liver Disease 3362 C1306067 Drug-induced paranoid state 3363 C1274933 Drug-Induced Stevens Johnson Syndrome 3364 C1852021 Drusen, Radial, Autosomal Dominant 3365 C0013238 Dry Eye Syndromes 3366 C0013261 Duane Retraction Syndrome SMDE02095 Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia. D004370 616219|126800|617041|604356 233 H50.8 C0013261 3367 C4310752 DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS 3368 C0751083 Duane Retraction Syndrome, Type 2 3369 C0751084 Duane Retraction Syndrome, Type 3 3370 C0175691 Dubowitz syndrome SMDE01033 Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. C535718 223370 235 Q87.1 C0175691 3371 C3542021 Duchenne and Becker Muscular Dystrophy 3372 C4554215 Duchenne or Becker muscular dystrophy 3373 C1527349 Ductal Breast Carcinoma 3374 C1176475 Ductal Carcinoma 3375 C0013295 Duodenal Ulcer dis_1374 3376 C2675336 Duplication 15q11-q13 Syndrome 3377 C2751630 Dursun Syndrome 3378 C0013336 Dwarfism 3379 C1851996 Dwarfism tall vertebrae 3380 C0265286 Dyggve-Melchior-Clausen syndrome 3381 C1510450 Dysacusis 3382 C0013362 Dysarthria dis_1375 3383 C0454597 Dysarthria, Flaccid 3384 C1563666 Dysarthria, Guttural 3385 C0454598 Dysarthria, Mixed 3386 C0240952 Dysarthria, Scanning 3387 C0454596 Dysarthria, Spastic 3388 C0013363 Dysautonomia 3389 C0013364 Dysautonomia, Familial 3390 C0237326 Dyschezia 3391 C0013366 Dyschondroplasias 3392 C1306229 Dyschromatosis universalis 3393 C2675711 Dyschromatosis Universalis Hereditaria 1 3394 C3809394 DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 SMDE04979 615402 C3809394 3395 C1266177 Dysembryoplastic neuroepithelial tumor 3396 C0394006 Dysequilibrium syndrome SMDE04766 Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. C535731 610185|224050|613227|615268 1766 G11.8 C0394006|C 3397 C1845837 Dyserythropoietic Anemia with Thrombocytopenia 3398 C0392699 Dysesthesia dis_1378 3399 C0272350 Dysfibrinogenemia, Congenital 3400 C0013374 Dysgammaglobulinemia dis_1380 3401 C0751512 Dysglossia 3402 C1876185 Dysgnathia complex 3403 C0265965 Dyskeratosis Congenita SMDE00665 Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. D019871 127550|305000|615190|613987|224230|616353 1775 Q82.8 3404 C1851970 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3405 C4551974 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 SMDE01108 127550 C1851970 3406 C3151443 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 3407 C3808802 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 3408 C4225284 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 SMDE02917 616553 C4225284|C4225283 3409 C3151445 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 3410 C3502105 Dyskeratosis Congenita, Autosomal Recessive 3411 C1857144 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 SMDE03034 224230 C1857144 3412 C3151441 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 SMDE03025 613987 C3151441 3413 C3554656 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 SMDE02694 615190 C3554656|C3808802 3414 C4225356 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 SMDE04002 616353 C4225356 3415 C3151442 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 3416 C3151444 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 3417 C0013386 Dyskinesia, Drug-Induced dis_1386 3418 C1847627 Dyskinesia, Familial, with Facial Myokymia SMDE01808 606703 C1847627 3419 C4310792 DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET SMDE05132 616921 C4310792 3420 C0751088 Dyskinesia, Medication-Induced 3421 C4310683 DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER 3422 C0752210 Dyskinesias, Paroxysmal 3423 C0013384 Dyskinetic syndrome 3424 C3495145 Dyslalia 3425 C0476254 Dyslexia dis_1387 3426 C1851967 DYSLEXIA, SUSCEPTIBILITY TO, 1 3427 C0242339 Dyslipidemias 3428 C0598784 Dyslipoproteinemias 3429 C0013390 Dysmenorrhea dis_1389 3430 C0424503 Dysmorphic facies 3431 C0432072 Dysmorphic features 3432 C0432262 Dysosteosclerosis SMDE02194 Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. 224300 1782 Q78.8 C0432262 3433 C0013393 Dysostoses 3434 C0973461 Dysphasia dis_1394 3435 C0233477 Dysphoric mood dis_1396 3436 C1266181 Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos) 3437 C0013404 Dyspnea dis_1398 DIS00265 3438 C1857100 Dyssegmental dysplasia 3439 C0013409 Dyssocial Behavior 3440 C0700201 Dyssomnias 3441 C4302548 Dysspondyloenchondromatosis SMDE01877 Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. 85198 Q78.4 3442 C0013415 Dysthymic Disorder 3443 C0013421 Dystonia 3444 C1851945 DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT SMDE02822 128100 C1851945|C3888090 3445 C1868681 DYSTONIA 12 SMDE04536 128235 C1868681 3446 C1843264 DYSTONIA 13, TORSION 3447 C2677567 DYSTONIA 16 (disorder) 3448 C2676281 DYSTONIA 17, TORSION, AUTOSOMAL RECESSIVE (disorder) 3449 C1842534 DYSTONIA 18 (disorder) 3450 C1857093 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder) 3451 C3281236 DYSTONIA 21 3452 C3538999 DYSTONIA 23 SMDE00923 614860 C3538999 3453 C3554374 DYSTONIA 24 SMDE00593 615034 C3554374 3454 C3554447 DYSTONIA 25 SMDE00285 615073 C3554447 3455 C4225341 DYSTONIA 26, MYOCLONIC SMDE02506 616398 C4225341 3456 C4225336 DYSTONIA 27 SMDE00662 616411 C4225336 3457 C4310633 DYSTONIA 28, CHILDHOOD-ONSET 3458 C1839130 Dystonia 3, Torsion, X-Linked SMDE02604 314250 C1839130 3459 C1851943 DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 3460 C1414216 Dystonia 6, torsion (disorder) 3461 C1865818 DYSTONIA 7, TORSION (disorder) 3462 C0393593 Dystonia Disorders 3463 C4310634 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 3464 C0393610 Dystonia, Diurnal 3465 C0268468 Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency SMDE03933 612716 C0268468 3466 C2673535 DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 3467 C0751093 Dystonia, Limb 3468 C0393588 Dystonia, Paroxysmal 3469 C0752203 Dystonia, Primary 3470 C0752205 Dystonia, Secondary 3471 C0752206 Dystonias, Sporadic 3472 C2750824 Dystransthyretinemic Euthyroidal Hyperthyroxinemia 3473 C2931689 Dystrophia myotonica 2 3474 C0221260 Dystrophia unguium 3475 C0013447 Ear Diseases 3476 C1868684 EAR, PATELLA, SHORT STATURE SYNDROME 3477 C0541798 Early Awakening 3478 C0393695 Early Childhood Epilepsy, Myoclonic 3479 C4551549 Early Infantile Epileptic Encephalopathy 6 3480 C0393706 Early infantile epileptic encephalopathy with suppression bursts 3481 C0270855 Early myoclonic encephalopathy SMDE01576 Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. 609304|616341|617105 1935 G40.4 C0270855 3482 C1656427 Early onset schizophrenia 3483 C3888090 Early onset torsion dystonia 3484 C3830362 Early Pregnancy Loss 3485 C4749281 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 3486 C0013473 Eating Disorders 3487 C0013481 Ebstein Anomaly 3488 C1333432 EBV-Related Malignant Neoplasm 3489 C1305968 Eccrine dermal cylindroma 3490 C0013502 Echinococcosis 3491 C3549567 Echogenic kidneys 3492 C0013575 Ectodermal Dysplasia 3493 C3888065 ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT SMDE00219 129490 C3888065 3494 C3887494 ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE SMDE03556 224900 C3887494 3495 C3541517 ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT SMDE04866 614940 C3541517 3496 C3539920 ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE SMDE01610 614941 C3539920 3497 C4310616 ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE 3498 C4479322 ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE 3499 C4748560 ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS 3500 C1720965 Ectodermal Dysplasia 3, Anhidrotic 3501 C3554117 ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE SMDE00110 614929 C3554117 3502 C3554127 ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE SMDE05136 614931 C3554127 3503 C1851850 Ectodermal dysplasia adrenal cyst 3504 C1845919 Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema SMDE04362 300301 C1845919 3505 C2677481 Ectodermal Dysplasia, Anhidrotic, With T-Cell Immunodeficiency, Autosomal Dominant SMDE01758 612132 C2677481 3506 C1857041 Ectodermal dysplasia, ectrodactyly, and macular dystrophy 3507 C0406702 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 3508 C1846006 Ectodermal dysplasia, hypohidrotic, with immune deficiency SMDE00709 300291 C1846006|C1846008 3509 C1865951 Ectodermal Dysplasia, Pure Hair-Nail Type 3510 C1858302 Ectodermal dysplasia/ skin fragility syndrome 3511 C3150807 ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 SMDE02756 613573 C3150807 3512 C0013581 Ectopia Lentis 3513 C3541518 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT SMDE01469 129600 C3541518 3514 C3541474 ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE SMDE00527 225100 C3541474 3515 C1851286 Ectopia lentis isolated 3516 C1644196 Ectopia Lentis with Ectopia of Pupil 3517 C2673634 Ectopia Lentis, Isolated, Autosomal Recessive 3518 C1832167 Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 3519 C3279571 Ectopic posterior pituitary 3520 C0032987 Ectopic Pregnancy 3521 C1399226 Ectopic rhythm 3522 C0266283 Ectopic thyroid tissue (disorder) 3523 C0265554 Ectrodactyly 3524 C1851841 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 3525 C1858562 ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3 SMDE03053 604292 C1858562 3526 C0013595 Eczema dis_1412 3527 C0086196 Eczema, Infantile 3528 C0013604 Edema dis_1414 3529 C0013608 Edema, Cardiac 3530 C3280392 EDICT syndrome SMDE01390 614303 C3280392 3531 C1969156 EEG with burst suppression 3532 C3281153 EFAVIRENZ, POOR METABOLISM OF 3533 C0013720 Ehlers-Danlos Syndrome 3534 C0268344 Ehlers-Danlos syndrome 6B 3535 C4303789 Ehlers-Danlos syndrome cardiac valvular type 3536 C1848029 Ehlers-Danlos syndrome caused by tenascin-X deficiency 3537 C4225429 Ehlers-Danlos syndrome classic type 3538 C4551497 Ehlers-Danlos syndrome kyphoscoliotic type 3539 C4303787 Ehlers-Danlos syndrome musculocontractural type 3540 C0268335 Ehlers-Danlos syndrome type 1 SMDE02870 C536194 90309 Q79.6 C0268335 3541 C0268336 Ehlers-Danlos syndrome type 2 SMDE03397 C536195 90318 Q79.6 C0268336 3542 C0268341 Ehlers-Danlos syndrome type 5 3543 C0268342 Ehlers-Danlos syndrome type 6 3544 C0268345 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 3545 C4551623 EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1 3546 C0220679 Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified 3547 C1857034 Ehlers-Danlos syndrome, cardiac valvular form 3548 C4552122 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 3549 C4538407 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 3550 C4693870 EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 3551 C2700425 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE 3552 C3281160 EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 3553 C1866294 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 3554 C3809845 EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 SMDE04292 615539 C3809845 3555 C4551499 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 SMDE04137 130080 C0268347 3556 C4310681 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 3557 C1869122 EHLERS-DANLOS SYNDROME, PROGEROID FORM 3558 C4552003 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 3559 C3809210 EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 3560 C0268338 Ehlers-Danlos Syndrome, Type IV 3561 C0268347 Ehlers-Danlos Syndrome, Type VIII 3562 C0410180 Eichsfeld type congenital muscular dystrophy 3563 C1838779 Eiken Skeletal Dysplasia 3564 C0151611 Electroencephalogram abnormal 3565 C0949855 Electron Transport Chain Deficiencies, Mitochondrial 3566 C1860157 Elejalde Disease 3567 C2678497 Elliptocytosis 1 SMDE00534 611804 C2678497 3568 C1851741 ELLIPTOCYTOSIS 2 (disorder) 3569 C1866810 ELLIPTOCYTOSIS 3 3570 C1862324 Elliptocytosis 4 3571 C0427480 Elliptocytosis found 3572 C0013902 Elliptocytosis, Hereditary 3573 C0013903 Ellis-Van Creveld Syndrome SMDE03764 225500 C0013903 3574 C0013911 Emaciation 3575 C3279664 Emberger Syndrome 3576 C0751847 Embolic Infarction, Middle Cerebral Artery 3577 C0013922 Embolism 3578 C0085307 Embolism and Thrombosis 3579 C0013930 Embolism, Tumor 3580 C1704212 Embolus 3581 C0752350 Embryo Death 3582 C1136082 Embryo Disintegration 3583 C0752351 Embryo Loss 3584 C0013937 Embryo Resorption 3585 C0027654 Embryonal Neoplasm 3586 C0158551 Embryonal nuclear cataract (disorder) 3587 C0206656 Embryonal Rhabdomyosarcoma dis_1487 3588 C0013949 Embryopathies 3589 C2750035 Emery-Dreifuss Muscular Dystrophy 3 3590 C2751807 Emery-Dreifuss Muscular Dystrophy 4 3591 C2751805 EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT SMDE03039 612999 C2751805 3592 C2749106 Emery-Dreifuss Muscular Dystrophy 6, X-Linked 3593 C3553060 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT SMDE04164 614302 C3553060 3594 C0014008 Empty Sella Syndrome 3595 C0271574 Empty Sella Syndrome, Primary 3596 C0751097 Empty Sella Syndrome, Secondary 3597 C2717860 Encapsulating Peritoneal Sclerosis 3598 C0014038 Encephalitis dis_1494 3599 C0751445 Encephalitis, Polio 3600 C0751583 Encephalitis, West Nile Fever 3601 C4722446 ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION 3602 C3279699 Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 3603 C1856972 Encephaloclastic Proliferative Vasculopathy 3604 C0406612 Encephalocraniocutaneous lipomatosis SMDE04231 613001 C0406612 3605 C0085584 Encephalopathies 3606 C4310726 ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2 3607 C2750180 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1 3608 C3553868 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5 3609 C3553869 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6 3610 C4225294 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 3611 C4693542 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 3612 C2675556 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 3613 C3280160 ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 3614 C3280660 ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 3615 C1968556 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS SMDE01244 300673 C1968556 3616 C4540052 ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES 3617 C4540059 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY 3618 C4310671 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM 3619 C4310675 ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY 3620 C4310667 ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY 3621 C4014700 ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY SMDE01289 615924 C4014700 3622 C0751267 Encephalopathy, Subacute Necrotizing, Infantile 3623 C0751268 Encephalopathy, Subacute Necrotizing, Juvenile 3624 C0149504 Encephalopathy, Toxic 3625 C1704356 Enchondroma 3626 C0014084 Enchondromatosis SMDE03403 Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. D004687 166000 296 Q78.4 C0013366|C0014084 3627 C0745744 End Stage Liver Disease 3628 C0342200 Endemic Cretinism 3629 C1449718 Endocrine Breast Diseases 3630 C0014132 Endocrine Gland Neoplasms 3631 C0014130 Endocrine System Diseases 3632 C2675227 Endocrine-Cerebroosteodysplasia SMDE02652 612651 C2675227 3633 C0011573 Endogenous depression 3634 C1257963 Endogenous Hyperinsulinism 3635 C1153706 Endometrial adenocarcinoma 3636 C0476089 Endometrial Carcinoma DIS00271 3637 C1720816 Endometrial Diseases 3638 C0014173 Endometrial Hyperplasia 3639 C0014170 Endometrial Neoplasms dis_1498 DIS00272 3640 C0206630 Endometrial Stromal Sarcoma 3641 C2239246 Endometrial stromal sarcoma, high grade 3642 C0346163 Endometrioid carcinoma ovary 3643 C0269102 Endometrioma 3644 C0014175 Endometriosis dis_1499 DIS00273 3645 C0553980 Endomyocardial Fibrosis dis_1501 3646 C0376618 Endotoxemia dis_1504 DIS00274 3647 C0036981 Endotoxic shock dis_1505 3648 C1864233 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY (disorder) 3649 C1849394 Enhanced S-Cone Syndrome SMDE05013 268100 C0339541|C1849394 3650 C4012410 Enlarged ventricles (in some patients) 3651 C1863752 Enlarged Vestibular Aqueduct 3652 C4316791 Entamoeba histolytica Infection 3653 C0014324 Entamoebiasis 3654 C0014335 Enteritis 3655 C0014356 Enterocolitis dis_1517 3656 C0268416 Enterokinase Deficiency SMDE03530 226200 C0268416 3657 C0456889 Enteropathy-Associated T-Cell Lymphoma 3658 C0014378 Enterovirus Infections 3659 C0752289 Environmental Sleep Disorder 3660 C0520572 Enzymopathy 3661 C0014457 Eosinophilia dis_1525 3662 C0014458 Eosinophilia, Tropical 3663 C0085179 Eosinophilia-Myalgia Syndrome 3664 C0751622 Eosinophilia-Myalgia Syndrome, L-Tryptophan-Related 3665 C0341106 Eosinophilic esophagitis 3666 C0206142 Eosinophilic leukemia 3667 C1299884 Eosinophilic myositis (disorder) 3668 C1527407 Eosinophilic Pneumonia 3669 C0700367 Ependymoblastoma 3670 C0014474 Ependymoma dis_1526 DIS00277 3671 C0014476 Eperythrozoonosis 3672 C0014522 Epidermodysplasia Verruciformis SMDE00797 Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. D004819 226400|305350 302 B07 C0014522 3673 C4722564 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 3674 C4722258 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2 3675 C4748876 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 3676 C4749042 EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 3677 C2931072 Epidermolysa bullosa simplex and limb girdle muscular dystrophy 3678 C0014527 Epidermolysis Bullosa dis_1530 3679 C0079294 Epidermolysis Bullosa Dystrophica 3680 C2673612 Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive 3681 C2673611 Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant 3682 C0079295 Epidermolysis Bullosa Herpetiformis Dowling-Meara 3683 C2673609 Epidermolysis bullosa inversa dystrophica 3684 C0079297 Epidermolysis Bullosa Progressiva 3685 C1275114 Epidermolysis Bullosa Pruriginosa SMDE04045 604129 C1275114 3686 C0079298 Epidermolysis Bullosa Simplex 3687 C0079299 Epidermolysis Bullosa Simplex Kobner 3688 C1843477 Epidermolysis Bullosa Simplex Superficialis SMDE02800 Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters. 607600 89839 Q81.0 C1843477 3689 C1836284 Epidermolysis Bullosa Simplex with Migratory Circinate Erythema 3690 C0432316 Epidermolysis bullosa simplex with mottled pigmentation SMDE04514 Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation. C535959 131960 79397 Q81.0 C0432316 3691 C4225309 EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY SMDE00739 616487 C4225309 3692 C2677349 Epidermolysis Bullosa Simplex With Pyloric Atresia SMDE01285 Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. 612138 158684 Q81.0 C2677349 3693 C1832926 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) 3694 C3715082 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 SMDE00718 601001 C3715082 3695 C3809470 EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 SMDE00936 615425 C3809470 3696 C4310631 EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS 3697 C0432317 Epidermolysis bullosa simplex, Ogna type SMDE04356 Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering. C535962 131950 79401 Q81.0 C0432317 3698 C0268371 Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails SMDE01037 132000 C0268371 3699 C1856934 Epidermolysis bullosa with pyloric atresia 3700 C2608084 EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) 3701 C1864826 Epidermolysis bullosa, lethal acantholytic SMDE03700 609638 C1864826 3702 C3554367 EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE SMDE01029 615028 C3554367 3703 C0432321 Epidermolysis bullosa, pretibial 3704 C0343110 Epidermolytic palmoplantar keratoderma of Vorner 3705 C2931735 Epidermolytic palmoplantar keratoderma Vorner type 3706 C0014547 Epilepsies, Partial 3707 C0014544 Epilepsy dis_1535 SMDE05208 DIS00279 3708 C0270816 epilepsy and migraine 3709 C4727877 Epilepsy with myoclonic-atonic seizures 3710 C0751124 Epilepsy, Absence, Atypical 3711 C0347869 Epilepsy, Akinetic 3712 C0751642 Epilepsy, Anterior Fronto-Polar 3713 C0086236 Epilepsy, Atonic 3714 C1852581 EPILEPSY, BENIGN NEONATAL, 2 3715 C1842382 Epilepsy, Benign Neonatal, 3 3716 C0393672 Epilepsy, Benign Psychomotor, Childhood 3717 C1838604 EPILEPSY, CHILDHOOD ABSENCE, 1 3718 C1843244 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2 3719 C2677087 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 3720 C2749872 EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 3721 C0393684 Epilepsy, Cingulate 3722 C0085417 Epilepsy, Complex Partial 3723 C0086237 Epilepsy, Cryptogenic 3724 C4310632 EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 3725 C1832841 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 3726 C3150860 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 3727 C3809374 EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5 SMDE02944 615400 C3809374 3728 C4551983 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 SMDE00024 604364 C1858477 3729 C4310709 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 3730 C4310708 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 3731 C4693694 EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4 3732 C4551957 Epilepsy, Familial Temporal Lobe 1 3733 C3280730 EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 SMDE03323 614417 C3280730 3734 C4225327 EPILEPSY, FAMILIAL TEMPORAL LOBE, 7 3735 C4225318 EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 SMDE03788 616461 C4225318 3736 C1848137 EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 3737 C3806402 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION SMDE01009 245570 C3806402|C0282512|C1832814|C3806403|C2363129 3738 C0085541 Epilepsy, Frontal Lobe dis_1536 3739 C0014548 Epilepsy, Generalized 3740 C4225276 EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME SMDE00473 616577 C4225276 3741 C4551550 EPILEPSY, HOT WATER, 1 3742 C2751603 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10 3743 C2750893 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 3744 C3553859 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 3745 C4013473 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 3746 C4225245 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 3747 C2752062 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8 3748 C2750887 EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 3749 C2750892 EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 3750 C4693613 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 3751 C0393682 Epilepsy, Lateral Temporal 3752 C4552765 Epilepsy, Minor 3753 C1842852 EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2 3754 C0917800 Epilepsy, Myoclonic, Infantile 3755 C3554306 EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 SMDE04757 615005 C3554306 3756 C1838049 Epilepsy, Nocturnal Frontal Lobe, Type 1 3757 C1854335 Epilepsy, Nocturnal Frontal Lobe, Type 3 3758 C1835905 Epilepsy, Nocturnal Frontal Lobe, Type 4 3759 C0393688 Epilepsy, Opercular 3760 C0751643 Epilepsy, Orbito-Frontal 3761 C1858477 Epilepsy, Partial, with Variable Foci 3762 C2673257 EPILEPSY, PROGRESSIVE MYOCLONIC 3 3763 C4015420 EPILEPSY, PROGRESSIVE MYOCLONIC 7 SMDE03981 616187 C4015420 3764 C4225258 EPILEPSY, PROGRESSIVE MYOCLONIC, 10 SMDE04199 616640 C4225258 3765 C3279627 EPILEPSY, PROGRESSIVE MYOCLONIC, 6 SMDE00607 614018 C3279627 3766 C4015619 EPILEPSY, PROGRESSIVE MYOCLONIC, 8 SMDE04480 616230 C4015619 3767 C4225289 EPILEPSY, PROGRESSIVE MYOCLONIC, 9 SMDE00216 616540 C4225289 3768 C1849508 EPILEPSY, PYRIDOXINE-DEPENDENT SMDE03926 266100 C1849508 3769 C0376532 Epilepsy, Rolandic 3770 C1842531 Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp 3771 C0086240 Epilepsy, Simple Partial 3772 C0393683 Epilepsy, Supplementary Motor 3773 C0751641 Epilepsy, Symptomatic, Partial Complex 3774 C0014556 Epilepsy, Temporal Lobe 3775 C0086241 Epilepsy, Tonic 3776 C0751118 Epilepsy, Tonic-Clonic, Familial 3777 C0751119 Epilepsy, Tonic-Clonic, Symptomatic 3778 C1845343 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders SMDE02630 300491 C1845343 3779 C0270846 Epileptic drop attack 3780 C0543888 Epileptic encephalopathy dis_1537 3781 C4512050 Epileptic encephalopathy with global cerebral demyelination 3782 C3809278 EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET SMDE02182 615369 C3809278 3783 C3463992 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 SMDE02327 308350 C3463992 3784 C3150987 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 SMDE05197 613721 C3150987 3785 C3150988 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 SMDE02895 613722 C3150988 3786 C3554195 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 SMDE00919 614959 C3554195 3787 C3554316 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 3788 C3809173 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 3789 C3809606 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 SMDE04585 615473 C3809606 3790 C3809624 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 SMDE02919 615476 C3809624 3791 C3810400 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 SMDE03634 615744 C3810400 3792 C1839333 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 SMDE01409 300672 C1839333 3793 C4014430 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 SMDE02248 615833 C4014430 3794 C4014492 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 SMDE04144 615859 C4014492 3795 C4014531 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 SMDE03452 615871 C4014531 3796 C4014621 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA 3797 C4015119 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 SMDE04220 616056 C4015119 3798 C4015316 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 SMDE01672 616139 C4015316 3799 C4015519 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 SMDE02115 616211 C4015519 3800 C4225361 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 SMDE02166 616339 C4225361 3801 C4225360 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 SMDE04517 616341 C4225360 3802 C4225357 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 SMDE03954 616346 C4225357 3803 C4225350 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 SMDE02116 616366 C4225350 3804 C4225337 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 SMDE03204 616409 C4225337 3805 C4225257 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 SMDE01911 616645 C4225257 3806 C4225256 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 SMDE00452 616647 C4225256 3807 C3550904 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 SMDE04802 300884 C3550904 3808 C4310770 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 3809 C4310762 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 3810 C2677326 Epileptic Encephalopathy, Early Infantile, 4 SMDE03657 612164 C2677326 3811 C4310737 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 3812 C4310717 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 3813 C4310716 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 3814 C4310712 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 3815 C4310700 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 3816 C4310691 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 3817 C4310687 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 3818 C4310685 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 3819 C4310637 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 3820 C4310635 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 3821 C3150731 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 SMDE03860 613477 C3150731 3822 C4225320 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 SMDE01535 616457 C4225320 3823 C4479208 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 3824 C4479236 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 3825 C4479313 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 3826 C4479319 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 3827 C4539843 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55 3828 C4540034 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56 3829 C4540411 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57 3830 C4693367 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 3831 C4693550 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 3832 C4693663 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60 3833 C4693688 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 3834 C4693699 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 3835 C4693810 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 3836 C4693899 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 3837 C4693925 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 3838 C4748070 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 3839 C4748341 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 3840 C4748688 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68 3841 C4748988 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 3842 C3150986 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 SMDE01217 613720 C3150986 3843 C4749023 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 3844 C4540199 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 3845 C4693362 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 3846 C4693934 EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 3847 C4317109 Epileptic Seizures dis_1538 DIS00280 3848 C4014690 EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE SMDE01017 615923 C4014690 3849 C1838280 Epiphyseal dysplasia, multiple, 1 SMDE02060 132400 C1851537|C1851538|C1838280 3850 C1838429 Epiphyseal dysplasia, multiple, 2 SMDE04560 600204 C1838429 3851 C1832998 EPIPHYSEAL DYSPLASIA, MULTIPLE, 3 SMDE00943 600969 C1832998|C3152083 3852 C1847593 EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 SMDE00612 226900 C1847593 3853 C1846843 EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 SMDE03048 607078 C1846843 3854 C2675767 EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 SMDE03886 614135 C2675767 3855 C4540251 EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 3856 C3501899 Epiphyseal Dysplasia, Multiple, with Myopathy 3857 C1851536 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness SMDE01021 132450 C1851536 3858 C1720189 Episodic Ataxia dis_1545 3859 C1719788 Episodic ataxia type 1 3860 C1720416 Episodic ataxia type 2 (disorder) 3861 C4015108 Episodic ataxia with slurred speech 3862 C1866039 EPISODIC ATAXIA, TYPE 5 SMDE05105 613855 C1866039 3863 C2675211 EPISODIC ATAXIA, TYPE 6 (disorder) 3864 C4552000 Episodic Kinesigenic Dyskinesia 1 SMDE03585 128200 C1868682 3865 C3808667 EPISODIC PAIN SYNDROME, FAMILIAL, 1 SMDE01268 615040 C3808667 3866 C3809893 EPISODIC PAIN SYNDROME, FAMILIAL, 2 SMDE00363 615551 C3809893 3867 C3809899 EPISODIC PAIN SYNDROME, FAMILIAL, 3 SMDE01030 615552 C3809899 3868 C0014591 Epistaxis dis_1564 3869 C1852551 Epithelial Recurrent Erosion Dystrophy SMDE04875 122400 C1852551 3870 C0341823 Epithelial tumor of ovary 3871 C0206739 Epithelioid and spindle cell nevus 3872 C0206732 Epithelioid hemangioendothelioma 3873 C1368683 Epithelioma 3874 C0398641 Epstein syndrome (disorder) 3875 C0878675 Erdheim-Chester Disease 3876 C0242350 Erectile dysfunction dis_1567 DIS00283 3877 C0041834 Erythema dis_1572 3878 C0014742 Erythema Multiforme 3879 C2752073 Erythrocyte Amp Deaminase Deficiency 3880 C1855577 Erythrocyte Lactate Transporter Defect SMDE04904 245340 C1855577 3881 C0369183 Erythrocyte Mean Corpuscular Hemoglobin Test 3882 C1527405 Erythrocytosis 3883 C4551637 Erythrocytosis familial, 1 3884 C1837915 ERYTHROCYTOSIS, FAMILIAL, 2 SMDE02608 263400 C1837915 3885 C1853286 Erythrocytosis, Familial, 3 SMDE04001 609820 C1853286 3886 C2673187 Erythrocytosis, Familial, 4 SMDE01209 611783 C2673187 3887 C4693552 ERYTHROCYTOSIS, FAMILIAL, 5 3888 C0014799 Erythroderma, Maculopapular 3889 C0432330 Erythrokeratoderma 3890 C1836681 Erythrokeratoderma, Reticular 3891 C0265961 Erythrokeratodermia variabilis SMDE01802 617524|617526|617525|133200 317 Q82.8 C0265961 3892 C1836330 ERYTHROKERATODERMIA VARIABILIS 3 (disorder) 3893 C4551486 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 3894 C4479618 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 3895 C4479619 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 3896 C4479620 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 4 3897 C1851481 Erythrokeratodermia with ataxia 3898 C4746575 ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO 3899 C0014804 Erythromelalgia dis_1578 SMDE01413 3900 C0162568 Erythropoietic Protoporphyria 3901 C0014836 Escherichia coli Infections 3902 C0014848 Esophageal Achalasia 3903 C0014849 Esophageal and Gastric Varices 3904 C0152018 Esophageal carcinoma 3905 C0014852 Esophageal Diseases 3906 C0267072 Esophageal Dysphagia 3907 C0014859 Esophageal Neoplasms dis_1581 DIS00284 3908 C0014866 Esophageal Stenosis 3909 C4551650 Esophageal Stricture dis_1582 3910 C0014867 Esophageal Varices 3911 C0014868 Esophagitis dis_1585 3912 C0085580 Essential Hypertension dis_1587 DIS00287 3913 C0270736 Essential Tremor 3914 C1856796 Estren-Dameshek Variant of Fanconi Anemia 3915 C1856797 Estren-Dameshek Variant of Fanconi Pancytopenia 3916 C3809250 ESTROGEN RESISTANCE SMDE01326 615363 C3809250 3917 C0266487 Etat Marbre 3918 C1865349 Ethylmalonic encephalopathy 3919 C1856897 Eunuchoidism, familial hypogonadotropic 3920 C0302859 Euthyroid Goiter dis_1592 3921 C0272126 Evans syndrome 3922 C4225180 EVEN-PLUS SYNDROME SMDE04880 616854 C4225180 3923 C0553580 Ewings sarcoma 3924 C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) 3925 C0015230 Exanthema DIS00290 3926 C0683357 Excessive drinking 3927 C0152227 Excessive tearing 3928 C0266453 Exencephaly 3929 C4225187 EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE SMDE03218 616839 C4225187 3930 C0206368 Exfoliation Syndrome 3931 C1842797 Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like 3932 C0267963 Exocrine pancreatic insufficiency 3933 C2675184 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis SMDE02717 612714 C2675184 3934 C1257964 Exogenous Hyperinsulinism 3935 C1851413 EXOSTOSES, MULTIPLE, TYPE II SMDE02516 133701 C1851413 3936 C0014072 Experimental Autoimmune Encephalomyelitis dis_1614 3937 C0086404 Experimental Hepatoma 3938 C0887898 Experimental Lung Inflammation 3939 C0239325 Extensor Rigidity 3940 C0600178 External Carotid Artery Diseases 3941 C0751636 External Carotid Artery Stenosis 3942 C0750989 External Carotid Artery Thrombosis 3943 C1855333 External genital hypoplasia 3944 C0162292 External Ophthalmoplegia dis_1617 3945 C3805278 Extrahepatic Cholangiocarcinoma 3946 C4748387 EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY 3947 C0279980 Extra-osseous Ewing's sarcoma 3948 C0015371 Extrapyramidal Disorders 3949 C0277821 Extrapyramidal Rigidity 3950 C0234133 Extrapyramidal sign 3951 C1275278 Extraskeletal Myxoid Chondrosarcoma 3952 C0015378 Extravasation of Contrast Media 3953 C0312854 Extravascular Hemolysis 3954 C0002390 Extrinsic allergic alveolitis 3955 C2237660 exudative macular degeneration 3956 C0154832 Exudative retinopathy 3957 C1851402 Exudative vitreoretinopathy 1 SMDE03023 133780 C0035344|C1851402 3958 C1854002 EXUDATIVE VITREORETINOPATHY 3 3959 C1866176 EXUDATIVE VITREORETINOPATHY 4 (disorder) 3960 C2750079 Exudative Vitreoretinopathy 5 SMDE02439 613310 C2750079 3961 C4225316 EXUDATIVE VITREORETINOPATHY 6 SMDE03818 616468 C4225316 3962 C4539767 EXUDATIVE VITREORETINOPATHY 7 3963 C1844579 Exudative Vitreoretinopathy, Familial, X-Linked Recessive 3964 C0015393 Eye Abnormalities 3965 C4229652 Eye coloboma (in some patients) 3966 C0015398 Eye Diseases, Hereditary 3967 C0015404 Eye Infections, Bacterial 3968 C0151827 Eye pain 3969 C0015423 Eyelid Diseases 3970 C0002986 Fabry Disease SMDE01304 DIS00294 Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. D000795 301500 324 E75.2 C0002986|C1970820 3971 C1306710 Facial asymmetry 3972 C0015456 Facial Dermatoses 3973 C1856892 Facial Dysmorphism with Multiple Malformations 3974 C3554576 FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE SMDE03185 615139 C3554576 3975 C4540277 FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION 3976 C0751142 Facial Palsy, Lower Motor Neuron 3977 C0751141 Facial Palsy, Upper Motor Neuron 3978 C0015469 Facial paralysis dis_1639 3979 C0427055 Facial Paresis 3980 C3553625 FACIAL PARESIS, HEREDITARY CONGENITAL, 3 SMDE01509 614744 C3553625 3981 C1858717 Facial paresis, hereditary, congenital 3982 C0282631 Facies 3983 C1834673 Facioscapulohumeral muscular dystrophy 1a 3984 C1834671 FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 3985 C0272325 Factor 8 deficiency, acquired 3986 C3203356 Factor II deficiency 3987 C1856883 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF 3988 C3150889 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 SMDE05060 613625 C3150889 3989 C0015503 Factor VII Deficiency SMDE02629 227500 C0015503 3990 C3494187 Factor VIII Deficiency 3991 C0015519 Factor X Deficiency SMDE02623 227600 C0015519 3992 C0015526 Factor XII Deficiency SMDE04667 234000 C0015526 3993 C2750514 Factor Xiii, A Subunit, Deficiency Of SMDE03238 613225 C2750514 3994 C2750481 Factor XIII, B Subunit, Deficiency Of SMDE02521 613235 C2750481 3995 C0393590 Fahr's syndrome (disorder) 3996 C1852222 Failure of Tooth Eruption, Primary SMDE00611 125350 C1852222 3997 C0015544 Failure to Thrive 3998 C1136041 Familial Acoustic Neuroma 3999 C4225157 FAMILIAL ADENOMATOUS POLYPOSIS 3 SMDE04671 616415 C4225157 4000 C4310719 FAMILIAL ADENOMATOUS POLYPOSIS 4 4001 C0276496 Familial Alzheimer Disease (FAD) 4002 C4303482 Familial Alzheimer-like prion disease SMDE04477 Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease (see this term) characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. 280397 A81.8 4003 C0268384 Familial Amyloid Neuropathy, Portuguese Type 4004 C1527337 Familial Amyloid Polyneuropathy, Appalachian Type 4005 C0268385 Familial Amyloid Polyneuropathy, Jewish Type 4006 C0936273 Familial Amyloid Polyneuropathy, Type IV 4007 C0155127 Familial Amyloid Polyneuropathy, Type V 4008 C0268383 Familial amyloid polyneuropathy, type VI 4009 C0431399 Familial aplasia of the vermis 4010 C2931082 Familial apoceruloplasmin deficiency 4011 C0268199 Familial apolipoprotein C-II deficiency 4012 C3468561 familial atrial fibrillation 4013 C2314896 Familial Atypical Mole Melanoma Syndrome 4014 C1809471 Familial benign hypercalcemia 4015 C0220669 Familial benign neonatal epilepsy 4016 C0085106 Familial benign pemphigus 4017 C0268393 Familial Cerebral Amyloid Angiopathy 4018 C2931263 Familial cerebral cavernous malformation 4019 C2936502 Familial CHARGE Syndrome 4020 C4733128 familial chordoma 4021 C4551895 Familial Cold Autoinflammatory Syndrome 1 SMDE01152 120100 C0343068 4022 C2673198 Familial Cold Autoinflammatory Syndrome 2 SMDE00885 611762 C2673198 4023 C3280914 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 SMDE03715 614468 C3280914 4024 C4015276 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4 SMDE00910 616115 C4015276 4025 C0343068 Familial cold urticaria SMDE03443 Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. 616115|120100 47045 L50.2 C0343068 4026 C3896578 Familial Colorectal Cancer Type X 4027 C0751071 Familial Dementia 4028 C1852145 Familial dermographism 4029 C0340427 Familial dilated cardiomyopathy 4030 C0752207 Familial Dystonia 4031 C2746069 Familial ectopia lentis 4032 C1858680 Familial encephalopathy with neuroserpin inclusion bodies 4033 C0152264 Familial erythrocytosis 4034 C0432292 Familial expansile osteolysis SMDE04478 174810 C0432292 4035 C3489571 Familial Extrahepatic Biliary Atresia 4036 C0339539 Familial Exudative Vitreoretinopathy 4037 C0221032 Familial generalized lipodystrophy 4038 C4054695 Familial glucocorticoid deficiency 4039 C4049650 Familial Glucocorticoid Deficiency Type 1 4040 C4049714 Familial Glucocorticoid Deficiency Type 2 4041 C2931838 Familial HDL deficiency 4042 C0272199 Familial Hemophagocytic Lymphocytosis 4043 C0342881 Familial hypercholesterolemia - homozygous 4044 C1861862 Familial Hypertrophic Cardiomyopathy Type 4 4045 C2931837 Familial hypertryptophanemia 4046 C4275180 Familial hypoaldosteronism 4047 C1862596 Familial hypobetalipoproteinemia 4048 C3536983 Familial Hypophosphatemic Rickets 4049 C0342639 Familial idiopathic hypercalciuria 4050 C4721952 Familial Idiopathic Pulmonary Fibrosis 4051 C0393929 Familial infantile myasthenia 4052 C2713443 Familial Intestinal Polyposis 4053 C3489728 Familial intrahepatic cholestasis of pregnancy 4054 C4551961 Familial Isolated Hyperparathyroidism SMDE03449 145000|610071|617343 99879 E21.0 4055 C4706941 Familial isolated trichomegaly 4056 C0752104 Familial Juvenile Parkinsonism 4057 C4707866 Familial lambdoid synostosis SMDE04587 600775 3267 Q75.0 4058 C4087498 Familial LCAT deficiency 4059 C0268398 Familial lichen amyloidosis 4060 C0031069 Familial Mediterranean Fever SMDE04709 Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. D010505 249100|134610 342 E85.0 C0031069|C0585274 4061 C1851347 Familial Mediterranean Fever, Autosomal Dominant SMDE03822 134610 C1851347 4062 C1833921 Familial medullary thyroid carcinoma 4063 C1333989 Familial meningioma 4064 C3489732 Familial mesangial sclerosis 4065 C0340364 Familial mitral valve prolapse 4066 C0270763 Familial Motor Neuron Disease 4067 C4551981 Familial Multiple Coagulation Factor Deficiency I 4068 C1275122 Familial multiple trichoepitheliomata 4069 C2931351 Familial myelofibrosis 4070 C3501844 Familial Nonmedullary Thyroid Cancer 4071 C4733333 familial non-medullary thyroid cancer 4072 C3665488 Familial Osteochondritis Dissecans 4073 C0271694 Familial partial lipodystrophy 4074 C1720859 Familial Partial Lipodystrophy, Type 1 4075 C1720860 Familial Partial Lipodystrophy, Type 2 4076 C1720861 Familial Partial Lipodystrophy, Type 3 4077 C0030443 Familial Periodic Paralysis 4078 C2930842 Familial pityriasis rubra pilaris 4079 C4510731 Familial primary hypomagnesemia with normocalciuria and normocalcemia 4080 C0340543 Familial primary pulmonary hypertension 4081 C0751777 Familial Progressive Myoclonic Epilepsy 4082 C1701939 Familial pulmonary arterial hypertension 4083 C3245525 Familial renal glucosuria 4084 C0751483 Familial Retinoblastoma 4085 C3267076 Familial scaphocephaly syndrome 4086 C2931870 Familial schizencephaly 4087 C0342549 Familial Testotoxicosis 4088 C4707243 Familial thoracic aortic aneurysm and aortic dissection SMDE05045 Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. 613780|615436|610168|617168|611788|6|607086|616166 91387 Q87.4 4089 C4303761 Familial thrombocytosis SMDE00778 Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. 187950|300331|614521|601977 71493 D75.2 4090 C1956258 Familial Thrombotic Thrombocytopenic Purpura 4091 C0393615 Familial Tremor 4092 C2930808 Familial vascular leukoencephalopathy 4093 C0340485 Familial ventricular tachycardia 4094 C4706552 Familial vesicoureteral reflux 4095 C2936755 Familial Waldenstrom's Macroglobulinaemia 4096 C1853800 Familial Wilms tumor 2 4097 C0015625 Fanconi Anemia SMDE03785 Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. 227645|600901|613951|300514|603467|609053|227646|617247 84 D61.0 C0015625 4098 C3469527 fanconi anemia complementation group g 4099 C3469521 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 4100 C1845292 FANCONI ANEMIA, COMPLEMENTATION GROUP B SMDE03839 300514 C1845292 4101 C3468041 FANCONI ANEMIA, COMPLEMENTATION GROUP C SMDE02366 227645 C3468041 4102 C1838457 FANCONI ANEMIA, COMPLEMENTATION GROUP D1 SMDE01717 605724 C1838457 4103 C3160738 FANCONI ANEMIA, COMPLEMENTATION GROUP D2 SMDE02109 227646 C3160738 4104 C3160739 FANCONI ANEMIA, COMPLEMENTATION GROUP E SMDE03043 600901 C3160739 4105 C3469526 FANCONI ANEMIA, COMPLEMENTATION GROUP F SMDE01767 603467 C3469526 4106 C1836861 FANCONI ANEMIA, COMPLEMENTATION GROUP I SMDE01440 609053 C1836861 4107 C1836860 FANCONI ANEMIA, COMPLEMENTATION GROUP J SMDE02654 609054 C1836860 4108 C3469528 FANCONI ANEMIA, COMPLEMENTATION GROUP L SMDE01417 614083 C3469528 4109 C1835817 FANCONI ANEMIA, COMPLEMENTATION GROUP N SMDE00620 610832 C1835817 4110 C3150653 FANCONI ANEMIA, COMPLEMENTATION GROUP O SMDE04576 613390 C3150653 4111 C3469542 FANCONI ANEMIA, COMPLEMENTATION GROUP P SMDE00714 613951 C3469542 4112 C3808988 FANCONI ANEMIA, COMPLEMENTATION GROUP Q SMDE01455 615272 C3808988 4113 C4284093 FANCONI ANEMIA, COMPLEMENTATION GROUP R 4114 C4554406 FANCONI ANEMIA, COMPLEMENTATION GROUP S 4115 C4084840 FANCONI ANEMIA, COMPLEMENTATION GROUP T SMDE00455 616435 C4084840 4116 C4310651 FANCONI ANEMIA, COMPLEMENTATION GROUP U 4117 C4310652 FANCONI ANEMIA, COMPLEMENTATION GROUP V 4118 C4521564 FANCONI ANEMIA, COMPLEMENTATION GROUP W 4119 C4551503 FANCONI RENOTUBULAR SYNDROME 1 4120 C3150652 FANCONI RENOTUBULAR SYNDROME 2 SMDE04271 613388 C3150652 4121 C3810100 FANCONI RENOTUBULAR SYNDROME 3 SMDE00105 615605 C3810100 4122 C4014962 FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG SMDE00270 616026 C4014962 4123 C0015624 Fanconi Syndrome 4124 C3495427 Fanconi-Bickel Syndrome SMDE01501 227810 C3495427 4125 C0268255 Farber Lipogranulomatosis SMDE02759 228000 C0268255 4126 C0751144 Fasciculation, Benign 4127 C0541957 Fasciculation, Skeletal Muscle 4128 C0239548 Fasciculation, Tongue 4129 C2609269 Fasting hyperglycaemia 4130 C0271708 Fasting Hypoglycemia dis_1649 4131 C4755278 FASTKD2-related infantile mitochondrial encephalomyopathy 4132 C0206042 Fatal Familial Insomnia SMDE03170 600072 C0206042 4133 C4751597 Fatal post-viral neurodegenerative disorder 4134 C0521760 Fatigable Positional Nystagmus 4135 C0015672 Fatigue dis_1659 DIS00295 4136 C3668943 Fatty Acid Hydroxylase-Associated Neurodegeneration 4137 C0015695 Fatty Liver dis_1660 4138 C2750440 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 4139 C0015696 Fatty Liver, Alcoholic 4140 C0015702 Favism 4141 C0015704 Favre-Racouchot Syndrome 4142 C0015708 Fazio-Londe Syndrome 4143 C3809592 FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 4144 C0009952 Febrile Convulsions dis_1663 4145 C1858493 FEBRILE CONVULSIONS, FAMILIAL, 4 4146 C3280734 FEBRILE SEIZURES, FAMILIAL, 11 SMDE02177 614418 C3280734 4147 C0403445 Fechtner syndrome (disorder) 4148 C4042784 Feeding and Eating Disorders 4149 C0232466 Feeding difficulties dis_1666 4150 C0854145 Feeding Disorders 4151 C4551774 FEINGOLD SYNDROME 1 SMDE00844 164280 C0796068 4152 C3280489 FEINGOLD SYNDROME 2 SMDE01006 614326 C3280489 4153 C0021361 Female infertility dis_1670 4154 C0263477 Female pattern alopecia (disorder) 4155 C0238394 Female Pseudohermaphroditism 4156 C1527404 Female Pseudo-Turner Syndrome 4157 C0917730 Female sterility 4158 C1720887 Female Urogenital Diseases 4159 C1856789 Femur bifid with monodactylous ectrodactyly 4160 C0015814 Femur Head Necrosis 4161 C4751570 Ferro-cerebro-cutaneous syndrome 4162 C0349426 Ferrochelatase deficiency 4163 C2985290 Fetal Alcohol Spectrum Disorders 4164 C0015923 Fetal Alcohol Syndrome 4165 C2936718 Fetal Cerebral Ventriculomegaly 4166 C0015929 Fetal Diseases dis_1676 4167 C0015930 Fetal Distress 4168 C0015934 Fetal Growth Retardation 4169 C1841621 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 SMDE04847 141749 C0271985|C1841621 4170 C3150805 FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 4171 C1856309 Fetal hydrops (in perinatal or congenital neuromuscular forms) 4172 C4230920 Fetal hydrops (in some patients) 4173 C0158850 Fetal Malnutrition 4174 C2718076 Fetal Mummification 4175 C1285261 Fetal Nutrition Disorders 4176 C0015951 Fetal Resorption 4177 C1542327 Fetus or newborn affected by alcohol transmitted via placenta or breast milk 4178 C1855652 Fetus Small for Gestational Age 4179 C0015967 Fever dis_1677 SMDE05211 DIS00297 4180 C0220769 FG syndrome 4181 C1845902 FG SYNDROME 2 SMDE05101 300321 C1845902 4182 C1845567 FG SYNDROME 3 4183 C1845546 FG SYNDROME 4 (disorder) 4184 C0455383 FH: Depression 4185 C0334582 Fibrillary Astrocytoma 4186 C4316812 Fibrinogen Deficiency 4187 C4016070 Fibrinogen dusart phenotype 4188 C0206650 Fibroadenoma 4189 C2936351 Fibroatheroma 4190 C4704885 Fibrocartilaginous Dysplasia of Bone 4191 C0265282 Fibrochondrogenesis SMDE04625 614524|228520 2021 Q77.7 C0265282 4192 C3278138 FIBROCHONDROGENESIS 1 SMDE01086 228520 C3278138 4193 C3281128 FIBROCHONDROGENESIS 2 SMDE02666 614524 C3281128 4194 C1527396 Fibrocystic Disease of Pancreas 4195 C4704884 Fibrocystic Dysplasia of Bone 4196 C0016037 Fibrodysplasia Ossificans Progressiva SMDE04805 Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. D009221 135100 337 M61.1 C0016037 4197 C0023267 Fibroid Tumor 4198 C0334287 Fibrolamellar Hepatocellular Carcinoma 4199 C0016045 fibroma dis_1681 4200 C0016048 Fibromatosis 4201 C0206646 Fibromatosis, Abdominal 4202 C0079218 Fibromatosis, Aggressive 4203 C4551558 Fibromatosis, Gingival, Type 1 4204 C3714524 Fibromyxosarcoma 4205 C0016057 Fibrosarcoma dis_1682 4206 C0016059 Fibrosis dis_1685 DIS00299 4207 C1851102 Fibrosis Of Extraocular Muscles, Congenital, 1 SMDE02861 135700 C1851102|C2751105 4208 C1865915 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 SMDE01784 602078 C1865915 4209 C2748801 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT SMDE01653 600638 C2748801 4210 C2751105 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder) 4211 C4015552 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 SMDE02180 616219 C4015552 4212 C0239946 Fibrosis, Liver 4213 C4748939 FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 4214 C3697137 Fibrous dysplasia of bone with intramuscular myxoma 4215 C0016064 Fibrous Dysplasia, Monostotic 4216 C0334606 Fibrous Meningioma 4217 C0265319 Fibrous skin tumor of tuberous sclerosis 4218 C1856738 Fibular hypoplasia and complex brachydactyly SMDE03100 228900 C1856738 4219 C3151226 FICOLIN 3 DEFICIENCY SMDE01613 613860 C3151226 4220 C1836050 Filaminopathy, autosomal dominant 4221 C0795940 Filippi syndrome SMDE03529 272440 C0795940|C1839311 4222 C1261502 Finding of Mean Corpuscular Hemoglobin 4223 C0234373 Fine Tremor 4224 C1852150 Fingerprints, Absence of 4225 C0403399 Finnish congenital nephrotic syndrome 4226 C0342895 Fish-Eye Disease SMDE02892 Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. C538467 136120 79292 E78.6 C0342895 4227 C0026825 Flaccid Muscle Tone 4228 C0751460 Flaccid Quadriplegia 4229 C0016202 Flatfoot 4230 C0206608 Flavivirus Infections 4231 C1562113 Fleck corneal dystrophy 4232 C1856718 Fleck Retina, Familial Benign 4233 C0729582 Floating-harbor syndrome SMDE01566 Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. C537062 136140 2044 Q87.8 C0729582 4234 C0427201 Floppy Muscles 4235 C0016325 Fluoride Poisoning 4236 C0016382 Flushing dis_1708 4237 C3854603 FNAITP 4238 C1846385 FOCAL CORTICAL DYSPLASIA OF TAYLOR SMDE02175 607341 C1846385|C1846388|C1846386|C1846389 4239 C1846386 Focal Cortical Dysplasia of Taylor, Type IIa 4240 C1846389 Focal Cortical Dysplasia of Taylor, Type IIb 4241 C4479673 FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC 4242 C0016395 Focal Dermal Hypoplasia SMDE00336 Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. D005489 305600 2092 Q82.8 C0016395 4243 C0743332 Focal Dystonia dis_1713 4244 C2350878 Focal Emphysema 4245 C2936827 Focal facial dermal dysplasia 4246 C3554246 FOCAL FACIAL DERMAL DYSPLASIA 4 SMDE01792 614974 C3554246 4247 C0017668 Focal glomerulosclerosis dis_1714 4248 C4023501 Focal myoclonic seizures dis_1717 4249 C0746857 Focal Neurologic Deficits 4250 C4755302 Focal palmoplantar keratoderma with joint keratoses 4251 C4551527 Focal segmental glomerulosclerosis 1 SMDE04182 603278 C0333497 4252 C1858915 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2 SMDE04936 603965 C1858915 4253 C1842982 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO SMDE03319 607832 C1842982 4254 C2675525 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 4255 C2750475 Focal Segmental Glomerulosclerosis 5 SMDE01429 613237 C2750475 4256 C3279905 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 SMDE02579 614131 C3279905 4257 C4014925 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 SMDE03612 616002 C4014925 4258 C4014993 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8 SMDE03463 616032 C4014993 4259 C4015555 FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 SMDE02224 616220 C4015555 4260 C4049702 Focal Segmental Glomerulosclerosis, Not Otherwise Specified 4261 C2749650 Folate malabsorption 4262 C0342705 Folate Malabsorption, Hereditary SMDE01197 229050 C0342705 4263 C0751381 Foley-Denny-Brown Syndrome 4264 C0016412 Folic Acid Deficiency DIS00301 4265 C0342386 Follicle stimulating hormone deficiency 4266 C1856716 Follicle-stimulating hormone deficiency, isolated 4267 C0205647 Follicular adenoma 4268 C0346104 Follicular atrophoderma and basal cell epitheliomata 4269 C0016427 Follicular cyst 4270 C0206682 Follicular thyroid carcinoma dis_1725 4271 C0016470 Food Allergy 4272 C0016479 Food Poisoning 4273 C0679360 Foodborne Disease 4274 C0016506 Foot Deformities 4275 C0016579 Formication 4276 C2931461 Forney Robinson Pascoe syndrome 4277 C0152112 Foster-Kennedy Syndrome 4278 C2673946 Foveal hypoplasia (finding) 4279 C3805604 FOVEAL HYPOPLASIA 1 SMDE04108 136520 C3805604 4280 C3807873 FOVEAL HYPOPLASIA 2 SMDE00529 609218 C3807873 4281 C1836603 Foveal Hypoplasia and Anterior Segment Dysgenesis 4282 C3203738 Fowler syndrome 4283 C3150705 FOXG1 syndrome 4284 C1856963 Fragile nails 4285 C0016667 Fragile X Syndrome SMDE02585 Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features. D005600 300624 908 Q99.2 C0016667|C0751156 4286 C1839780 FRAGILE X TREMOR/ATAXIA SYNDROME SMDE02348 300623 C1839780 4287 C0265241 Franceschetti-Klein syndrome 4288 C0473237 Frank hematuria 4289 C4551480 FRASER SYNDROME 1 4290 C4540036 FRASER SYNDROME 2 4291 C4540040 FRASER SYNDROME 3 4292 C0950122 Frasier Syndrome SMDE02555 136680 C0950122 4293 C0751156 FRAXA Syndrome 4294 C0751157 FRAXE Syndrome 4295 C4274329 FRAXF syndrome 4296 C0016689 Freckles 4297 C0265224 Freeman-Sheldon syndrome SMDE02452 Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. C535483 193700|616266|277720 2053 Q87.0 C0265224 4298 C4305134 Fried syndrome SMDE03014 Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. 304340 85335 Q87.8 4299 C0016719 Friedreich Ataxia SMDE04649 Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing. D005621 229300|601992 95 G11.1 C0016719 4300 C1856689 FRIEDREICH ATAXIA 1 SMDE02357 229300 C1847416|C1856689 4301 C0016722 Frigidity 4302 C0393671 Frontal Epilepsy, Benign, Childhood 4303 C0265293 Frontometaphyseal dysplasia SMDE00680 Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder (see this term) and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. C538064 617137|305620 1826 Q78.5 C0265293 4304 C4281559 FRONTOMETAPHYSEAL DYSPLASIA 1 SMDE00081 305620 C4281559 4305 C4310697 FRONTOMETAPHYSEAL DYSPLASIA 2 4306 C1876203 Frontonasal dysplasia 4307 C3150703 FRONTONASAL DYSPLASIA 2 SMDE01438 613451 C3150703 4308 C3150706 FRONTONASAL DYSPLASIA 3 SMDE02891 613456 C3150706 4309 C4751077 Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 4310 C0338451 Frontotemporal dementia dis_1745 SMDE03344 4311 C4014648 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 SMDE00388 615911 C4014648 4312 C4225326 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 SMDE00420 616437 C4225326 4313 C4225325 FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4 SMDE02801 616439 C4225325 4314 C3888102 Frontotemporal Dementia With Motor Neuron Disease 4315 C1833296 FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED SMDE01511 600795 C1833296 4316 C0751072 Frontotemporal Lobar Degeneration 4317 C1843792 FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED SMDE01315 607485 C0282513|C1843792 4318 C0016756 Fructose-1,6-Diphosphatase Deficiency 4319 C0220730 Fryns syndrome SMDE02278 Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations. C538070 229850 2059 Q87.8 C0220730 4320 C1853623 Fryns-Aftimos Syndrome 4321 C0016781 Fuchs Endothelial Dystrophy 4322 C0016788 Fucosidase Deficiency Disease 4323 C0268221 Fucosidosis Type I 4324 C0268222 Fucosidosis Type II 4325 C1856728 Fuhrmann syndrome 4326 C0410174 Fukuyama Type Congenital Muscular Dystrophy 4327 C0751197 Fulminant Hepatic Failure with Cerebral Edema 4328 C0342770 Fumarase deficiency SMDE00005 606812 C2936826|C0342770 4329 C2936826 Fumaric aciduria 4330 C0559031 Functional Gastrointestinal Disorders 4331 C3279150 Functional hyposplenism 4332 C0311338 Fundus Albipunctatus dis_1754 SMDE02821 4333 C1850938 FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 4334 C1275592 Funisitis (disorder) 4335 C0333099 Fusiform Aneurysm 4336 C4479652 GABRIELE-DE VRIES SYNDROME 4337 C0751837 Gait Ataxia dis_1759 4338 C0751836 Gait Ataxia, Sensory 4339 C0751829 Gait Disorder, Sensorimotor 4340 C0751830 Gait Disorders, Neurologic 4341 C0231689 Gait, Athetotic 4342 C0235000 Gait, Broadened 4343 C0427149 Gait, Drop Foot 4344 C0231694 Gait, Festinating 4345 C0751831 Gait, Frontal 4346 C0231696 Gait, Hemiplegic 4347 C0427177 Gait, Hysterical 4348 C0234996 Gait, Rigid 4349 C0231698 Gait, Scissors 4350 C0231688 Gait, Shuffling 4351 C0337210 Gait, Stumbling 4352 C0231686 Gait, Unsteady 4353 C0751832 Gait, Widebased 4354 C3665358 Galactorrhea dis_1763 4355 C0016952 Galactosemias 4356 C0268233 GALACTOSIALIDOSIS SMDE01839 Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. C536411 256540 351 E77.1 C0268233 4357 C1969115 GALLBLADDER DISEASE 4 4358 C0016978 gallbladder neoplasm 4359 C0795949 Galloway Mowat syndrome 4360 C4551772 GALLOWAY-MOWAT SYNDROME 1 4361 C4538784 GALLOWAY-MOWAT SYNDROME 2, X-LINKED 4362 C4540266 GALLOWAY-MOWAT SYNDROME 3 4363 C4540270 GALLOWAY-MOWAT SYNDROME 4 4364 C4540274 GALLOWAY-MOWAT SYNDROME 5 4365 C3179194 GALNS Deficiency 4366 C0016995 Gambling 4367 C0030662 Gambling, Pathological 4368 C0342708 Gamma aminobutyric acid transaminase deficiency 4369 C0268616 Gamma-cystathionase deficiency 4370 C1856603 Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to SMDE01825 230450 C1856603 4371 C0268524 gamma-Glutamyltransferase deficiency 4372 C0085131 Gangliosidosis GM1 4373 C0268271 Gangliosidosis, Generalized GM1, Type 1 (disorder) 4374 C0268272 Gangliosidosis, Generalized GM1, Type 2 4375 C0268273 Gangliosidosis, Generalized GM1, Type 3 4376 C0017097 Gardner Syndrome 4377 C0278701 Gastric Adenocarcinoma 4378 C0267211 Gastric Antral Vascular Ectasia 4379 C0038358 Gastric ulcer dis_1775 DIS00311 4380 C0017145 Gastric Varix 4381 C0017150 Gastrinoma 4382 C0017154 Gastritis, Atrophic 4383 C0017160 Gastroenteritis 4384 C0017162 Gastroenteritis, Transmissible, of Swine 4385 C2930967 Gastro-enteropancreatic neuroendocrine tumor 4386 C0017168 Gastroesophageal reflux disease DIS00313 4387 C0017178 Gastrointestinal Diseases dis_1785 4388 C0017181 Gastrointestinal Hemorrhage dis_1787 4389 C0017185 Gastrointestinal Neoplasms DIS00319 4390 C3179349 Gastrointestinal Stromal Sarcoma 4391 C0238198 Gastrointestinal Stromal Tumors dis_1793 DIS00320 4392 C0152020 Gastroparesis dis_1795 4393 C3280030 GATA2 Deficiency 4394 C0017205 Gaucher Disease 4395 C1864651 GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY SMDE01229 610539 C1864651 4396 C1842704 GAUCHER DISEASE, PERINATAL LETHAL SMDE00042 608013 C1842704 4397 C1961835 Gaucher Disease, Type 1 4398 C0268250 Gaucher Disease, Type 2 (disorder) 4399 C0268251 Gaucher Disease, Type 3 (disorder) 4400 C1856476 Gaucher Disease, Type Iiic SMDE00421 231005 C1856476 4401 C2931585 Gaucher-like disease 4402 C1846496 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis SMDE03223 607313 C1846496 4403 C4551964 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 1 4404 C4479640 GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2 4405 C0231519 Gegenhalten 4406 C0270820 Gelastic Epilepsy 4407 C3489726 Geleophysic dysplasia 4408 C3278147 GELEOPHYSIC DYSPLASIA 1 SMDE04122 231050 C3278147 4409 C3280054 GELEOPHYSIC DYSPLASIA 2 SMDE03588 614185 C3280054 4410 C4540511 GELEOPHYSIC DYSPLASIA 3 4411 C0334581 Gemistocytic astrocytoma 4412 C2931588 GEMSS syndrome 4413 C0265257 Genee-Wiedemann syndrome 4414 C4505436 Generalized Absence Seizures 4415 C0311334 Generalized convulsive epilepsy 4416 C1836173 Generalized Epilepsy and Paroxysmal Dyskinesia SMDE01574 609446 C1836173 4417 C3502809 Generalized Epilepsy with Febrile Seizures Plus 4418 C2751778 Generalized Epilepsy With Febrile Seizures Plus, 7 4419 C1858672 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 SMDE04983 604233 C1858672 4420 C1858673 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 SMDE00967 604403 C2751756|C1858673 4421 C1858674 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 SMDE02418 611277 C1858674|C1969810 4422 C4015395 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 SMDE00343 616172 C4015395 4423 C0342751 Generalized glycogen storage disease of infants 4424 C0474366 Generalized Headache 4425 C1858120 Generalized hypotonia 4426 C2936781 Generalized Myotonia of Thomsen 4427 C0017332 Generalized Nonconvulsive Seizure Disorder 4428 C0343055 Generalized pustular psoriasis 4429 C0234533 Generalized seizures 4430 C0151911 Generalized Spasms 4431 C4722330 Generalized Thyroid Hormone Resistance 4432 C4707880 Genetic hyperferritinemia without iron overload 4433 C4274324 Genetic recurrent myoglobinuria 4434 C4749351 Genetic transient congenital hypothyroidism SMDE02847 226316 P72.2 4435 C0017412 Genital Diseases, Male 4436 C1563718 Genital Infantilism 4437 C0017416 Genital Neoplasms, Female 4438 C4704876 Genital Vulvovaginal Candidiasis 4439 C1853566 Genitopatellar Syndrome SMDE05192 Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. 606170 85201 Q87.8 C1853566 4440 C0751569 Genitourinary Cancer 4441 C0042065 Genitourinary Neoplasms 4442 C0919532 Genomic Instability 4443 C0740345 Germ Cell Cancer 4444 C0205851 Germ cell tumor 4445 C0432255 Geroderma osteodysplastica SMDE00012 Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. C537799 231070 2078 Q82.8 C0432255 4446 C0017495 Gerstmann-Straussler-Scheinker Disease 4447 C0085207 Gestational Diabetes 4448 C2931618 Gestational trophoblastic disease 4449 C1135868 Gestational Trophoblastic Neoplasms 4450 C1856465 Ghosal Hematodiaphyseal Dysplasia SMDE02394 Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. 231095 1802 C1856465 4451 C4016444 GHOSAL HEMATODIAPHYSEAL SYNDROME 4452 C0263372 Gianotti-Crosti Syndrome 4453 C1850386 GIANT AXONAL NEUROPATHY 1 4454 C4013360 GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT SMDE03059 610100 C4013360 4455 C1864695 Giant Axonal Neuropathy, Autosomal Dominant 4456 C0039483 Giant Cell Arteritis SMDE02513 Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. D013700 187360 397 M31.6 C0039483|C1956391 4457 C3693482 Giant Cell Fibroblastoma 4458 C0334588 Giant Cell Glioblastoma 4459 C0206638 Giant Cell Tumor of Bone 4460 C0751004 Giant Intracranial Aneurysm 4461 C1842036 GIANT PIGMENTED HAIRY NEVUS 4462 C1842035 Giant Platelet Syndrome with Thrombocytopenia 4463 C0017551 Gilbert Disease (disorder) 4464 C0040517 Gilles de la Tourette syndrome SMDE01974 137580 C1392622|C0040517 4465 C0431401 Gillespie syndrome SMDE04193 206700 C0431401 4466 C0017566 Gingival Hyperplasia 4467 C0017567 Gingival Hypertrophy 4468 C0376480 Gingival Overgrowth dis_1845 4469 C0268450 Gitelman Syndrome SMDE00072 263800 C0268450 4470 C0205854 Glandular Neoplasms 4471 C1861195 Glanzmann Thrombasthenia, Autosomal Dominant 4472 C3179396 Glanzmann Thrombasthenia, Type A 4473 C0017601 Glaucoma dis_1848 DIS00330 4474 C1842028 GLAUCOMA 1, OPEN ANGLE, A SMDE01581 137750 C1825363|C1842028 4475 C1863926 GLAUCOMA 1, OPEN ANGLE, F (disorder) 4476 C1835933 Glaucoma 1, Open Angle, G SMDE02794 609887 C1835933 4477 C2751294 GLAUCOMA 1, OPEN ANGLE, O SMDE02019 613100 C2751294 4478 C1856439 GLAUCOMA 3, PRIMARY CONGENITAL, A SMDE03378 231300 C1856439|C3278152|C3278153|C0020302 4479 C2751316 Glaucoma 3, Primary Congenital, D SMDE01830 613086 C2751316 4480 C4310639 GLAUCOMA 3, PRIMARY CONGENITAL, E 4481 C1832977 GLAUCOMA 3, PRIMARY INFANTILE, B SMDE04198 600975 C1832977 4482 C2981140 Glaucoma of childhood 4483 C1847730 GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) 4484 C0017612 Glaucoma, Open-Angle 4485 C0339573 Glaucoma, Primary Open Angle SMDE02611 137760 C0339573|C3278152|C1842026 4486 C0017614 Glaucoma, Suspect 4487 C0017636 Glioblastoma dis_1851 4488 C1621958 Glioblastoma Multiforme DIS00332 4489 C0017638 Glioma dis_1853 4490 C2750850 GLIOMA SUSCEPTIBILITY 1 SMDE04543 137800 C0206725|C1842010|C2750850|C0751396|C0014474|C0004114|C1621958 4491 C2751642 GLIOMA SUSCEPTIBILITY 2 4492 C2751641 GLIOMA SUSCEPTIBILITY 3 4493 C4225278 GLIOMA SUSCEPTIBILITY 9 4494 C0206726 gliosarcoma 4495 C0017639 Gliosis dis_1856 4496 C0262497 Global Amnesia 4497 C0557874 Global developmental delay 4498 C4310644 GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 4499 C4748924 GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR 4500 C0023521 Globoid cell leukodystrophy 4501 C0403825 Globozoospermia dis_1859 4502 C1835934 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria SMDE04234 609886 C1835934 4503 C0017658 Glomerulonephritis dis_1860 DIS00335 4504 C0017662 Glomerulonephritis, Membranoproliferative 4505 C1704320 Glomerulonephritis, Minimal Change 4506 C4521256 Glomerulopathy Assessment 4507 C3888104 Glomerulopathy with fibronectin deposits 4508 C1866075 GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder) 4509 C1841984 GLOMUVENOUS MALFORMATIONS SMDE05032 138000 C1841984 4510 C0017689 Glucagonoma dis_1866 4511 C3553587 GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY SMDE04145 614736 C3553587 4512 C0271742 Glucocorticoid deficiency with achalasia 4513 C1841972 Glucocorticoid Receptor Deficiency 4514 C1260386 Glucocorticoid-remediable aldosteronism 4515 C1257958 Glucose Metabolism Disorders 4516 C0268146 Glucose-6-phosphate transport defect 4517 C1847501 Glut1 Deficiency Syndrome 4518 C4551966 GLUT1 DEFICIENCY SYNDROME 1 4519 C3149117 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 4520 C0268609 Glutamate formiminotransferase deficiency SMDE04547 229100 C0268609 4521 C0268523 Glutamate-cysteine ligase deficiency 4522 C1864910 Glutamine deficiency, congenital SMDE01908 610015 C1864910 4523 C3278154 GLUTARIC ACIDEMIA IIA 4524 C3278155 GLUTARIC ACIDEMIA IIB 4525 C3278156 GLUTARIC ACIDEMIA IIC 4526 C1856401 Glutaric Aciduria IIA 4527 C1856403 Glutaric Aciduria IIB 4528 C1856405 Glutaric Aciduria IIC 4529 C0342873 Glutaric Aciduria III SMDE03651 231690 C0342873 4530 C0268595 Glutaric aciduria, type 1 4531 C3501647 Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to 4532 C1856399 Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to SMDE05067 231900 C1856399 4533 C0398747 Gluthathione peroxidase deficiency 4534 C0398746 Gluthathione synthetase deficiency 4535 C4310943 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE 4536 C0017919 Glycogen Storage Disease 4537 C1855861 Glycogen Storage Disease 0, Liver SMDE03616 240600 C1855861 4538 C1969054 Glycogen Storage Disease 0, Muscle SMDE00843 611556 C1969054 4539 C3888924 Glycogen storage disease due to acid maltase deficiency, infantile onset 4540 C0342749 GLYCOGEN STORAGE DISEASE Ic SMDE04544 232240 C0342750|C0342749 4541 C1968741 Glycogen Storage Disease IIIC 4542 C3694531 GLYCOGEN STORAGE DISEASE IXa1 SMDE02150 306000 C2748941|C1844412|C3694531 4543 C0543514 Glycogen Storage Disease IXB SMDE03823 261750 C0543514 4544 C2751643 Glycogen Storage Disease IXC SMDE03539 613027 C2751643 4545 C1849813 Glycogen Storage Disease of Heart, Lethal Congenital SMDE03179 261740 C1849813 4546 C0017920 Glycogen Storage Disease Type I 4547 C2919796 Glycogen storage disease type Ia 4548 C0017921 Glycogen storage disease type II 4549 C0751173 Glycogen Storage Disease Type II, Infantile 4550 C0751174 Glycogen Storage Disease Type II, Juvenile 4551 C0878677 Glycogen Storage Disease Type IIb 4552 C0017922 Glycogen Storage Disease Type III 4553 C0017923 Glycogen Storage Disease Type IV 4554 C0017924 Glycogen Storage Disease Type V 4555 C0017925 Glycogen Storage Disease Type VI 4556 C0017926 Glycogen Storage Disease Type VII 4557 C0268149 Glycogen storage disease type X 4558 C0272066 Glycogen Storage Disease XII SMDE02905 611881 C0272066 4559 C2752027 Glycogen Storage Disease XIII SMDE03721 612932 C2752027 4560 C2752015 Glycogen Storage Disease XIV 4561 C3150754 GLYCOGEN STORAGE DISEASE XV SMDE02832 613507 C3150754 4562 C1845151 Glycogen Storage Disease, Type IXD SMDE00217 300559 C1845151 4563 C3280114 Glycoprotein IA Deficiency 4564 C3280120 Glycoprotein VI deficiency 4565 C0017980 Glycosuria, Renal 4566 C4014958 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11 4567 C4540520 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 4568 C4540521 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16 4569 C4747891 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 4570 C4748357 GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 4571 C1853205 Glycosylphosphatidylinositol deficiency SMDE00658 610293 C1853205 4572 C2749283 Gm2-Gangliosidosis, Variant B1 4573 C0018021 Goiter dis_1873 4574 C1836123 Goldberg-Shprintzen megacolon syndrome SMDE02700 Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. C537279 609460 66629 Q87.8 C1836123 4575 C0265240 Goldenhar Syndrome 4576 C0339541 Goldmann-Favre syndrome (disorder) 4577 C0949331 Gonadal Agenesis 4578 C0018051 Gonadal Dysgenesis 4579 C0685838 Gonadal dysgenesis XX type deafness 4580 C0242526 Gonadal Dysgenesis, 45,X 4581 C0949595 Gonadal Dysgenesis, 46,XX 4582 C0018054 Gonadal Dysgenesis, 46,XY 4583 C0018055 Gonadal Dysgenesis, Mixed 4584 C0239761 Gonadal hypoplasia 4585 C0086367 Gonadotropin-Resistant Ovary Syndrome 4586 C0345382 Gorlin Chaudhry Moss syndrome 4587 C0018099 Gout dis_1880 DIS00336 4588 C0268117 Gout, HPRT-Related 4589 C1865639 Gracile bone dysplasia SMDE04050 602361 C1865639 4590 C1864002 GRACILE SYNDROME (disorder) 4591 C1704230 Grade I Astrocytoma 4592 C0018128 Graft Occlusion, Vascular 4593 C0018133 Graft-vs-Host Disease 4594 C4273658 Graham Little Piccardi Lassueur syndrome 4595 C0085423 Gram-Negative Bacterial Infections 4596 C0085426 Gram-Positive Bacterial Infections 4597 C0311335 Grand Mal Status Epilepticus 4598 C0018179 Granular Dystrophy, Corneal 4599 C1856263 Granulocytopenia with Immunoglobulin Abnormality 4600 C0018193 Granuloma, Foreign-Body 4601 C0018199 Granuloma, Plasma Cell dis_1886 4602 C0018200 Granuloma, Respiratory Tract 4603 C3495801 Granulomatosis with polyangiitis SMDE03745 Wegener granulomatosis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. D014890 608710 900 M31.3 C3495801|C0043092 4604 C1856255 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative SMDE02098 233690 C1856255 4605 C1856251 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I SMDE04922 233700 C1856251 4606 C1856245 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II SMDE03099 233710 C1856245 4607 C3151409 GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III SMDE05174 613960 C3151409 4608 C1844376 Granulomatous Disease, Chronic, X-Linked SMDE01745 306400 C1844376 4609 C0376407 Granulomatous Slack Skin 4610 C1567257 Granulosa Cell Cancer 4611 C0018206 granulosa cell tumor 4612 C0018213 Graves Disease 4613 C0272302 Gray Platelet Syndrome SMDE00080 139090 C0272302 4614 C0265306 Greig cephalopolysyndactyly syndrome SMDE03093 Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. C537300 175700 380 Q87.0 C0265306 4615 C1851480 Greither Disease 4616 C1859194 GRISCELLI SYNDROME, TYPE 1 SMDE03239 214450 C1859194 4617 C1868679 GRISCELLI SYNDROME, TYPE 2 SMDE00233 607624 C1868679 4618 C1836573 GRISCELLI SYNDROME, TYPE 3 SMDE00033 609227 C1836573 4619 C1641846 Groenouw corneal dystrophy type I (disorder) 4620 C0018245 Groenouw's Dystrophies 4621 C0376359 Gronblad-Strandberg Syndrome 4622 C0262361 Growth abnormality 4623 C1864652 Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 4624 C1854630 Growth Deficiency and Mental Retardation with Facial Dysmorphism 4625 C0456070 Growth delay 4626 C0018273 Growth Disorders dis_1895 4627 C0346302 Growth Hormone-Secreting Pituitary Adenoma 4628 C4225307 GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES SMDE04967 616489 C4225307 4629 C0151686 Growth retardation 4630 C0406723 Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy 4631 C2752001 Growth Retardation, Developmental Delay, Coarse Facies, And Early Death 4632 C4310720 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY 4633 C2750866 Growth retardation, pre- and postnatal 4634 C1856305 GSD IV, Neuromuscular Form, Childhood 4635 C1856304 GSD IV, Neuromuscular Form, Congenital 4636 C1856303 GSD IV, Neuromuscular Form, Fatal Perinatal 4637 C0574080 Guanidinoacetate methyltransferase deficiency 4638 C0018378 Guillain-Barre Syndrome dis_1896 DIS00342 4639 C4083008 Guillain-Barre Syndrome, Familial SMDE04641 139393 C3542501|C0393819|C4083008 4640 C0422854 Gustatory seizure 4641 C0018413 Gynandroblastoma 4642 C0018418 Gynecomastia dis_1897 4643 C0018425 Gyrate Atrophy 4644 C0455503 H/O: depression 4645 C2713394 Haim-Monk Syndrome 4646 C1855627 HAIM-MUNK SYNDROME SMDE04975 245010 C1855627 4647 C0018500 Hair Diseases 4648 C2675460 HAIR MORPHOLOGY 1 4649 C0023443 Hairy Cell Leukemia DIS00344 4650 C0349633 Hairy cell leukemia variant 4651 C0917715 Hajdu-Cheney Syndrome SMDE02626 102500 C0917715|C1838257 4652 C0018520 Halitosis 4653 C0018522 Hallermann's Syndrome 4654 C0018523 Hallervorden-Spatz Syndrome 4655 C0079474 Hallopeau-Siemens Disease 4656 C0751175 Hallucination of Body Sensation 4657 C0018524 Hallucinations dis_1901 4658 C0233762 Hallucinations, Auditory 4659 C0424083 Hallucinations, Dissociative 4660 C0233759 Hallucinations, Elementary 4661 C0563608 Hallucinations, Formed, of People 4662 C0233766 Hallucinations, Gustatory 4663 C0233773 Hallucinations, Hypnagogic 4664 C0424082 Hallucinations, Hypnapompic 4665 C0751176 Hallucinations, Internal Body Sensation 4666 C0544668 Hallucinations, Kinesthetic 4667 C0233775 Hallucinations, Mood Congruent 4668 C0233776 Hallucinations, Mood Incongruent 4669 C0233765 Hallucinations, Olfactory 4670 C0029226 Hallucinations, Organic 4671 C0563661 Hallucinations, Reflex 4672 C0235153 Hallucinations, Sensory 4673 C0233774 Hallucinations, Somatic 4674 C0233767 Hallucinations, Tactile 4675 C0233763 Hallucinations, Visual 4676 C0424072 Hallucinations, Visual, Formed 4677 C0424071 Hallucinations, Visual, Unformed 4678 C0018552 Hamartoma dis_1903 4679 C0018553 Hamartoma Syndrome, Multiple 4680 C3272802 Hamartomatous polyposis dis_1904 4681 C4721508 Hamman-Rich Disease 4682 C0085786 Hamman-Rich syndrome 4683 C0018564 Hand deformities 4684 C1841679 Hand foot uterus syndrome 4685 C0393756 Hangover from alcohol dis_1910 4686 C4310677 HAREL-YOON SYNDROME 4687 C0239849 Harlequin Fetus 4688 C0598226 Harlequin type ichthyosis 4689 C0018609 Hartnup Disease SMDE03421 Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). D006250 234500 2116 E72.0 C0018609 4690 C0677607 Hashimoto Disease 4691 C0018614 Hashish Abuse 4692 C2931042 Hawkinsinuria SMDE00059 Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. C535845 140350 2118 E70.2 C2931042 4693 C0018621 Hay fever 4694 C0406709 Hay-Wells syndrome 4695 C3841459 Hb H disease 4696 C3711531 Hdl Deficiency, Type 2 4697 C3887461 Head and Neck Carcinoma 4698 C0018671 Head and Neck Neoplasms dis_1914 DIS00347 4699 C0018672 Head Banging 4700 C0018675 Head Neoplasms 4701 C0018681 Headache dis_1917 4702 C4025860 Hearing abnormality dis_1918 4703 C1384666 hearing impairment dis_1920 4704 C1970280 Hearing loss begins with loss of high frequencies 4705 C2750088 HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO 4706 C0086395 Hearing Loss, Extreme 4707 C0011057 Hearing Loss, Sudden 4708 C0260662 Hearing problem 4709 C4310793 HEART AND BRAIN MALFORMATION SYNDROME SMDE00546 616920 C4310793 4710 C0018794 Heart Block 4711 C1961112 Heart Decompensation 4712 C4229649 Heart defect (in some patients) 4713 C2931046 Heart defect, tongue hamartoma and polysyndactyly 4714 C4012454 HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES SMDE00290 600001 C1838780|C3888085|C4012454 4715 C0018799 Heart Diseases SMDE05214 Pathological conditions involving the HEART including its structural and functional abnormalities. D006331 C0018799 4716 C0018801 Heart failure dis_1924 DIS00353 4717 C1135196 Heart Failure, Diastolic 4718 C0235527 Heart Failure, Right-Sided 4719 C0018814 Heart Rupture, Post-Infarction 4720 C0018816 Heart Septal Defects 4721 C0018824 Heart valve disease 4722 C0018834 Heartburn 4723 C1857829 Heart-hand syndrome, Slovenian type SMDE04965 610140 C1857829 4724 C0282507 Heat Stress Disorders 4725 C0687132 heavy drinking 4726 C0265226 Hecht syndrome (disorder) 4727 C4551980 HEIMLER SYNDROME 1 SMDE03389 234580 C1856186 4728 C4225267 HEIMLER SYNDROME 2 SMDE01826 616617 C4225267 4729 C0700299 Heinz Body Anemias SMDE01847 140700 C0700299 4730 C0079487 Helicobacter Infections 4731 C1838332 HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO 4732 C4522164 HELIX SYNDROME 4733 C0162739 HELLP Syndrome 4734 C2931048 HEM dysplasia 4735 C0334609 Hemangioblastic Meningioma 4736 C0206734 Hemangioblastoma 4737 C0018916 Hemangioma 4738 C1865871 HEMANGIOMA, CAPILLARY INFANTILE SMDE01855 602089 C1865871 4739 C4016109 HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC 4740 C0752160 Hemangioma, Cavernous, Central Nervous System 4741 C0205789 Hemangioma, Intramuscular 4742 C0334610 Hemangiopericytic Meningioma 4743 C0018922 hemangiopericytoma 4744 C0018923 Hemangiosarcoma dis_1932 4745 C0018932 Hematochezia dis_1934 4746 C0376545 Hematologic Neoplasms 4747 C0018939 Hematological Disease dis_1936 4748 C0018944 Hematoma 4749 C0877172 Hematoma, Epidural, Spinal 4750 C0018946 Hematoma, Subdural 4751 C0749098 Hematoma, Subdural, Acute 4752 C2713368 Hematopoetic Myelodysplasia 4753 C0376544 Hematopoietic Neoplasms 4754 C0018965 Hematuria dis_1937 4755 C0241908 Hematuria, Benign Familial SMDE03346 141200 C0403440|C0241908 4756 C1841651 Heme Oxygenase 1 Deficiency SMDE00466 614034 C1841651 4757 C0018975 Hemeralopia dis_1938 4758 C0221169 Hemiballismus 4759 C0877781 Hemicrania 4760 C0018984 Hemicrania migraine 4761 C0751143 Hemifacial Paralysis 4762 C1856184 HEMIHYPERPLASIA, ISOLATED 4763 C0431391 Hemimegalencephaly 4764 C0018989 Hemiparesis dis_1942 4765 C0018991 Hemiplegia dis_1943 4766 C0278110 Hemiplegia, Crossed 4767 C0154693 Hemiplegia, Flaccid 4768 C0392550 Hemiplegia, Infantile 4769 C0751195 Hemiplegia, Post-Ictal 4770 C0154694 Hemiplegia, Spastic 4771 C0521662 Hemiplegia, Transient 4772 C1832884 Hemiplegic migraine, familial type 1 4773 C0018995 Hemochromatosis dis_1946 4774 C3469186 HEMOCHROMATOSIS, TYPE 1 SMDE01788 235200 C0392514|C3469186 4775 C1865614 HEMOCHROMATOSIS, TYPE 2A SMDE03068 602390 C1865614|C0268060 4776 C1865616 HEMOCHROMATOSIS, TYPE 2B SMDE04752 613313 C1865616 4777 C1858664 HEMOCHROMATOSIS, TYPE 3 SMDE00384 604250 C1858664 4778 C1853733 HEMOCHROMATOSIS, TYPE 4 4779 C0272005 Hemoglobin Bart's hydrops syndrome 4780 C0019021 Hemoglobin C Disease 4781 C0272080 Hemoglobin D disease 4782 C0238159 Hemoglobin E disease 4783 C0472777 Hemoglobin E/beta thalassemia disease 4784 C0019025 Hemoglobin F Disease 4785 C3161174 Hemoglobin H Disease SMDE05134 613978 C3279561|C3161174 4786 C3278365 HEMOGLOBIN H HYDROPS FETALIS SYNDROME 4787 C3665425 Hemoglobin M Disease 4788 C0019045 Hemoglobinopathies 4789 C0019050 Hemoglobinuria, Paroxysmal 4790 C0019054 Hemolysis (disorder) 4791 C0472792 Hemolytic anemia due to hexokinase deficiency 4792 C4746970 HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED 4793 C3150730 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY SMDE02542 613470 C3150730 4794 C3150343 HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY SMDE01530 235700 C3150343 4795 C2749604 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 4796 C2752040 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 4797 C2752039 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 4798 C2752038 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 4799 C2752037 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5 4800 C2752036 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 4801 C0019061 Hemolytic-Uremic Syndrome dis_1949 4802 C0019064 Hemopericardium 4803 C4551514 Hemophagocytic Lymphohistiocytosis, Familial, 1 4804 C1863727 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 SMDE05018 603553 C1863727 4805 C1837174 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 SMDE03269 608898 C1837174 4806 C1863728 Hemophagocytic lymphohistiocytosis, familial, 4 SMDE03752 603552 C1863728 4807 C2751293 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 SMDE04613 613101 C2751293 4808 C3887558 Hemophagocytic Syndrome 4809 C0019069 Hemophilia A SMDE04749 306700 C0019069 4810 C0008533 Hemophilia B SMDE02379 306900 C0008533 4811 C0019080 Hemorrhage dis_1953 DIS00358 4812 C3281105 HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO 4813 C3151000 HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS SMDE02882 613730 C3151000 4814 C0019087 Hemorrhagic Disorders 4815 C2931861 Hemorrhagic hereditary nephritis 4816 C0019112 Hemorrhoids SMDE05221 Swollen veins in the lower part of the RECTUM or ANUS. Hemorrhoids can be inside the anus (internal), under the skin around the anus (external), or protruding from inside to outside of the anus. People with hemorrhoids may or may not exhibit symptoms which include bleeding, itching, and pain. D006484 C0019112 4817 C0340834 Hennekam lymphangiectasia-lymphedema syndrome 4818 C4012050 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 SMDE04179 235510 C4012050|C0340834 4819 C4014939 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 4820 C4748408 HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 4821 C0034152 Henoch-Schoenlein Purpura 4822 C0398626 Heparin cofactor II deficiency (disorder) 4823 C1840646 Hepatic Adenomas, Familial SMDE02545 142330 C1840646 4824 C0019147 Hepatic Coma 4825 C2930797 Hepatic ductular hypoplasia 4826 C0019151 Hepatic Encephalopathy dis_1962 4827 C0009714 Hepatic Fibrosis, Congenital 4828 C1527352 Hepatic Form of Wilson Disease 4829 C1306571 Hepatic Insufficiency 4830 C3151466 HEPATIC LIPASE DEFICIENCY (disorder) 4831 C0268621 Hepatic methionine adenosyltransferase deficiency 4832 C0751198 Hepatic Stupor 4833 C0019154 Hepatic Vein Thrombosis dis_1970 4834 C0019156 Hepatic Veno-Occlusive Disease 4835 C1856128 Hepatic venoocclusive disease with immunodeficiency SMDE04771 235550 C1856128 4836 C0019158 Hepatitis dis_1971 4837 C0019163 Hepatitis B dis_1972 4838 C0524909 Hepatitis B, Chronic dis_1973 4839 C0019196 Hepatitis C dis_1975 DIS00361 4840 C1835407 HEPATITIS C VIRUS, SUSCEPTIBILITY TO 4841 C0524910 Hepatitis C, Chronic dis_1976 4842 C0019187 Hepatitis, Alcoholic 4843 C0019188 Hepatitis, Animal 4844 C0019189 Hepatitis, Chronic 4845 C1262760 Hepatitis, Drug-Induced 4846 C0019193 Hepatitis, Toxic 4847 C0206624 Hepatoblastoma dis_1979 4848 C0206669 Hepatocellular Adenoma dis_1980 4849 C0162569 Hepatoerythropoietic Porphyria SMDE04083 Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis. D017121 176100 95159 E80.2 C0162569|C0268324 4850 C0019202 Hepatolenticular Degeneration dis_1984 4851 C0019207 Hepatoma, Morris 4852 C0019208 Hepatoma, Novikoff 4853 C0019209 Hepatomegaly dis_1985 4854 C0019212 Hepatorenal Syndrome dis_1987 DIS00366 4855 C0019214 Hepatosplenomegaly dis_1988 4856 C2717906 Hereditary Angioedema Type I 4857 C1862892 Hereditary Angioedema Type II 4858 C1857728 Hereditary Angioedema Type III 4859 C2717905 Hereditary Angioedema Types I and II dis_1990 4860 C1960459 Hereditary angioedema with normal C1 esterase inhibitor activity 4861 C3658294 Hereditary Antithrombin Deficiency 4862 C0751422 Hereditary Autoinflammatory Diseases 4863 C0751602 Hereditary Autosomal Dominant Spastic Paraplegia 4864 C0677776 Hereditary Breast and Ovarian Cancer Syndrome 4865 C1879286 Hereditary bundle branch system defect 4866 C0398775 Hereditary C1 esterase inhibitor deficiency - deficient factor 4867 C0398776 Hereditary C1 esterase inhibitor deficiency - dysfunctional factor 4868 C1527338 Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 4869 C0699731 Hereditary Chorea 4870 C1333985 Hereditary clear cell renal cell carcinoma 4871 C0345408 Hereditary clubbing 4872 C0162531 Hereditary Coproporphyria SMDE01103 Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. D046349 121300 79273 E80.2 C0162531 4873 C0010035 Hereditary corneal dystrophy 4874 C1708349 Hereditary Diffuse Gastric Cancer 4875 C3711381 Hereditary Diffuse Leukoencephalopathy with Spheroids 4876 C0272317 Hereditary factor II deficiency disease 4877 C0015499 Hereditary Factor V Deficiency 4878 C0272327 Hereditary factor X deficiency disease 4879 C0015523 Hereditary Factor XI Deficiency 4880 C0015530 Hereditary Factor XIII Deficiency 4881 C0016751 Hereditary fructose intolerance syndrome 4882 C0399440 Hereditary gingival fibromatosis SMDE03028 Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. 617626|611010|609955|605544|135300 2024 K06.1 C0399440 4883 C0392514 Hereditary hemochromatosis 4884 C0039445 Hereditary hemorrhagic telangiectasia SMDE00205 Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. 187300|601101|610655|600376|615506|6 774 I78.0 C0039445 4885 C1832529 HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED PULMONARY ARTERIAL HYPERTENSION 4886 C1835614 Hereditary Hyperexplexia 4887 C1708350 Hereditary Leiomyomatosis and Renal Cell Cancer SMDE00259 Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer 150800 523 C64 C1708350 4888 C0393814 Hereditary liability to pressure palsies 4889 C1852767 Hereditary macular coloboma 4890 C1512419 Hereditary Melanoma 4891 C0027888 Hereditary Motor and Sensory Neuropathies 4892 C0751036 Hereditary Motor and Sensory Neuropathy Type I 4893 C0393807 Hereditary motor and sensory neuropathy with optic atrophy (disorder) 4894 C1853710 HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder) 4895 C0270914 Hereditary Motor and Sensory-Neuropathy Type II 4896 C3661519 Hereditary Motor Neuronopathy 4897 C0015306 Hereditary Multiple Exostoses 4898 C1863599 Hereditary Myopathy with Early Respiratory Failure SMDE01236 603689 C1863599 4899 C0027706 Hereditary nephritis 4900 C3899155 hereditary neuroblastoma 4901 C1333991 Hereditary Non-Polyposis Colon Cancer Type 2 4902 C1333990 Hereditary Nonpolyposis Colorectal Cancer 4903 C1112155 Hereditary non-polyposis colorectal cancer syndrome 4904 C0009405 Hereditary Nonpolyposis Colorectal Neoplasms dis_1992 4905 C0205730 Hereditary Opalescent Dentin (disorder) 4906 C0220987 Hereditary orotic aciduria SMDE04269 Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13. C537136 258900 30 E79.8 C0268130|C0220987 4907 C0268130 Hereditary orotic aciduria, type 1 4908 C0238339 Hereditary pancreatitis 4909 C0879257 Hereditary Papillary Renal Carcinoma 4910 C1333993 hereditary paraganglioma 4911 C1708353 Hereditary Paraganglioma-Pheochromocytoma Syndrome 4912 C0520739 Hereditary pyropoikilocytosis 4913 C0154860 Hereditary retinal dystrophy 4914 C0027889 Hereditary Sensory and Autonomic Neuropathies 4915 C3279885 Hereditary Sensory and Autonomic Neuropathy Type Ie 4916 C0020071 Hereditary Sensory Autonomic Neuropathy, Type 1 4917 C0020072 Hereditary Sensory Autonomic Neuropathy, Type 2 4918 C0020075 Hereditary Sensory Autonomic Neuropathy, Type 5 4919 C0086405 Hereditary Sensory Radicular Neuropathy 4920 C4749652 Hereditary site-specific ovarian cancer syndrome 4921 C2931441 Hereditary spastic paralysis, infantile onset ascending 4922 C0037889 Hereditary spherocytosis 4923 C0751604 Hereditary X-Linked Recessive Spastic Paraplegia 4924 C0019816 Hereditary, Type VII, Motor and Sensory Neuropathy 4925 C0751870 Heredodegenerative Disorders, Nervous System 4926 C0079683 Herlitz Disease 4927 C0079504 Hermanski-Pudlak Syndrome 4928 C4310746 HERMANSKY-PUDLAK SYNDROME 10 4929 C1842362 HERMANSKY-PUDLAK SYNDROME 2 SMDE01999 608233 C1842362 4930 C3888001 HERMANSKY-PUDLAK SYNDROME 3 SMDE01330 614072 C3888001 4931 C3484357 HERMANSKY-PUDLAK SYNDROME 4 SMDE02636 614073 C3484357 4932 C3888004 HERMANSKY-PUDLAK SYNDROME 5 SMDE00988 614074 C3888004 4933 C3888007 HERMANSKY-PUDLAK SYNDROME 6 SMDE01235 614075 C3888007 4934 C3279756 HERMANSKY-PUDLAK SYNDROME 7 SMDE03168 614076 C3279756 4935 C3888026 HERMANSKY-PUDLAK SYNDROME 8 SMDE03244 614077 C3888026 4936 C3280026 HERMANSKY-PUDLAK SYNDROME 9 SMDE00248 614171 C3280026 4937 C0019269 Hermaphroditism 4938 C0019294 Hernia, Inguinal 4939 C0600241 heroin abuse 4940 C0019337 Heroin Dependence DIS00371 4941 C4505390 Heroin Smoking 4942 C0276226 Herpes encephalitis 4943 C2751803 HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2 4944 C0019348 Herpes Simplex Infections 4945 C0019372 Herpesviridae Infections 4946 C0001338 Herpetic Acute Necrotizing Encephalitis 4947 C0019385 Herpetic meningoencephalitis 4948 C3178805 Heterotaxy Syndrome 4949 C1844020 HETEROTAXY, VISCERAL, 1, X-LINKED SMDE02871 306955 C3151867|C1844020 4950 C1415817 HETEROTAXY, VISCERAL, 2, AUTOSOMAL SMDE02438 605376 C1415817 4951 C3151057 HETEROTAXY, VISCERAL, 4, AUTOSOMAL SMDE01351 613751 C3151057 4952 C3495537 Heterotaxy, Visceral, 5, Autosomal SMDE01082 270100 C3495537|C0037221 4953 C3553676 HETEROTAXY, VISCERAL, 6, AUTOSOMAL SMDE00896 614779 C3553676 4954 C4225217 HETEROTAXY, VISCERAL, 7, AUTOSOMAL SMDE03697 616749 C4225217 4955 C4310668 HETEROTAXY, VISCERAL, 8, AUTOSOMAL 4956 C1842563 Heterotopia, Periventricular, Autosomal Recessive 4957 C1845235 Heterotopia, Periventricular, Ehlers-Danlos Variant 4958 C0029396 Heterotopic Ossification 4959 C0302246 Hexadactyly 4960 C1848914 Hexosaminidase A Deficiency, Adult Type 4961 C1848922 Hexosaminidase alpha-Subunit Deficiency (Variant B) 4962 C1704378 Heymann Nephritis 4963 C0268540 HHH syndrome 4964 C0376416 Hibernation, Myocardial 4965 C0205822 Hibernoma 4966 C0162836 Hidradenitis Suppurativa 4967 C1840560 Hidradenitis suppurativa, familial 4968 C0162361 Hidrotic Ectodermal Dysplasia SMDE03447 Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. 129500 189 Q82.8 C0162361 4969 C0340100 High altitude pulmonary edema 4970 C0340552 High altitude pulmonary hypertension 4971 C2675071 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12 4972 C1853096 HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 4973 C0079740 High Grade Lymphoma (neoplasm) 4974 C0272340 High molecular weight kininogen deficiency 4975 C1868571 Highly arched eyebrow 4976 C1840572 HIP DYSPLASIA, BEUKES TYPE SMDE03096 Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. 142669 2114 Q65.8 C1840572 4977 C0019569 Hirschsprung Disease dis_2019 SMDE03018 4978 C2751683 Hirschsprung disease ganglioneuroblastoma 4979 C3151237 Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction SMDE02791 613870 C3151237 4980 C3888239 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 4981 C1838564 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 4982 C3150974 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 4983 C3150975 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 4984 C0019572 Hirsutism dis_2020 DIS00373 4985 C0220992 Histidinemia 4986 C0268642 Histidinuria renal tubular defect 4987 C1708371 Histiocytoid Cardiomyopathy dis_2024 4988 C0205788 Histiocytoid hemangioma 4989 C1266127 Histiocytoma, Angiomatoid Fibrous SMDE02107 612160 C1266127 4990 C0206644 Histiocytoma, Benign Fibrous 4991 C0019618 Histiocytosis dis_2026 4992 C1864445 Histiocytosis with joint contractures and sensorineural deafness 4993 C0019621 Histiocytosis, Langerhans-Cell 4994 C4505456 HIV Coinfection 4995 C0206019 HIV Encephalopathy 4996 C0019693 HIV Infections dis_2028 4997 C0019699 HIV Seropositivity 4998 C0343755 HIV Wasting Syndrome 4999 C0936243 HIV-1-Associated Cognitive Motor Complex 5000 C1136321 HIV-Associated Lipodystrophy Syndrome 5001 C0268601 HMG CoA lyase deficiency 5002 C0043116 HMN (Hereditary Motor Neuropathy) Proximal Type I 5003 C4721916 HMSN Type V 5004 C0019829 Hodgkin Disease 5005 C0152267 Hodgkin lymphoma, lymphocyte depletion 5006 C0277839 Hoffman's Reflex 5007 C0268581 Holocarboxylase Synthetase Deficiency SMDE00826 Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. D028922 253270 79242 E53.8 C0268581 5008 C0079541 Holoprosencephaly 5009 C3280215 HOLOPROSENCEPHALY 11 SMDE00108 614226 C3280215 5010 C1834877 HOLOPROSENCEPHALY 2 (disorder) 5011 C1840529 HOLOPROSENCEPHALY 3 SMDE02126 142945 C1840529 5012 C1840528 HOLOPROSENCEPHALY 4 (disorder) 5013 C1864827 HOLOPROSENCEPHALY 5 SMDE00559 609637 C1864827 5014 C1835820 HOLOPROSENCEPHALY 7 SMDE03471 610828 C1835820 5015 C1844016 Holoprosencephaly with Fetal Akinesia-Hypokinesia Sequence 5016 C1845146 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate 5017 C0265264 Holt-Oram syndrome SMDE03422 Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. C535326 142900 392 Q87.2 C0265264 5018 C3495554 Homocarnosinase deficiency 5019 C0268632 Homocarnosinosis 5020 C4017108 HOMOCYSTEINE, TOTAL PLASMA, ELEVATED 5021 C0019880 Homocystinuria dis_2033 DIS00378 5022 C1856058 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY SMDE03295 236250 C1856059|C1856058 5023 C4017062 HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 5024 C1848553 Homocystinuria, CblD Type, Variant 1 5025 C1856057 Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 5026 C0271385 Horizontal Nystagmus 5027 C1846142 HOYERAAL-HREIDARSSON SYNDROME SMDE01833 Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. C536068 305000|616553|613990|615190|616353|613989 3322 D61.0 C1846142 5028 C0020074 HSAN Type IV 5029 C0343641 Human papilloma virus infection 5030 C3887947 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 1 5031 C3887948 HUMAN PAPILLOMAVIRUS TYPE 18 INTEGRATION SITE 2 5032 C0751645 Human Transmissible Spongiform Encephalopathies, Inherited 5033 C4747940 HUMEROFEMORAL HYPOPLASIA WITH RADIOTIBIAL RAY DEFICIENCY 5034 C0149911 Humoral hypercalcemia of malignancy (disorder) 5035 C0020179 Huntington Disease SMDE02986 Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. D006816 143100 399 G10 C0020179 5036 C0393574 Huntington Disease, Late Onset 5037 C1864112 HUNTINGTON DISEASE-LIKE 1 SMDE04933 603218 C1864112 5038 C1847987 HUNTINGTON DISEASE-LIKE 2 SMDE01715 606438 C1847987 5039 C0086431 Hurler-Scheie Syndrome SMDE00498 Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. 607015 93476 E76.0 C0086431 5040 C0949541 Hurthle Cell Tumor 5041 C0020192 Hyaline Membrane Disease 5042 C0086432 Hyalinosis, Segmental Glomerular 5043 C2745948 Hyalinosis, Systemic 5044 C1840452 Hyaloideoretinal degeneration of Wagner 5045 C1291490 Hyaluronidase Deficiency SMDE04167 601492 67041 E76.2 C1291490 5046 C0020217 Hydatidiform Mole 5047 C0334529 Hydatidiform Mole, Partial 5048 C3463897 HYDATIDIFORM MOLE, RECURRENT, 1 SMDE00409 231090 C3463897|C2931618|C0678213 5049 C0020225 Hydranencephaly 5050 C1846172 Hydranencephaly and Abnormal Genitalia 5051 C1856053 Hydranencephaly with Renal Aplasia-Dysplasia 5052 C0020255 Hydrocephalus dis_2051 5053 C0270720 Hydrocephalus Ex-Vacuo 5054 C3554691 HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES 5055 C4747885 HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES 5056 C3887608 HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 SMDE01227 236600 C3887608|C1531647 5057 C0020258 Hydrocephalus, Normal Pressure 5058 C2931104 Hydrolethalus syndrome 5059 C1856016 HYDROLETHALUS SYNDROME 1 SMDE00699 236680 C1856016 5060 C3279899 Hydrolethalus Syndrome 2 SMDE04496 614120 C3279899 5061 C0020295 Hydronephrosis dis_2053 DIS00385 5062 C4048262 Hydronephrosis Due To Pujo 5063 C0020302 Hydrophthalmos 5064 C0020305 Hydrops Fetalis 5065 C2673285 Hydrops fetalis (type II, congenital) 5066 C0455988 Hydrops Fetalis, Non-Immune 5067 C0270254 Hydrops of placenta 5068 C4310761 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 5069 C0268474 Hydroxykynureninuria SMDE03905 236800 C0268474 5070 C2936779 Hydroxymethylbilane Synthase Deficiency 5071 C1533587 Hydroxymethylglutaric aciduria 5072 C0268531 Hydroxyprolinemia dis_2056 5073 C0020428 Hyperaldosteronism dis_2060 5074 C1854107 Hyperaldosteronism, Familial, Type II 5075 C3150933 HYPERALDOSTERONISM, FAMILIAL, TYPE III SMDE00186 613677 C3150933 5076 C4310756 HYPERALDOSTERONISM, FAMILIAL, TYPE IV 5077 C0020429 Hyperalgesia dis_2061 5078 C0751211 Hyperalgesia, Primary 5079 C0751212 Hyperalgesia, Secondary 5080 C0751214 Hyperalgesia, Thermal 5081 C3149462 HYPERALPHALIPOPROTEINEMIA 1 SMDE03930 143470 C3149462|C3149463 5082 C0220994 Hyperammonemia DIS00386 5083 C4082171 Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 5084 C0268543 Hyperammonemia, type III 5085 C0206081 Hyperandrogenism 5086 C1859995 Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency 5087 C0268548 Hyperargininemia 5088 C0020433 Hyperbilirubinemia dis_2066 5089 C0857007 Hyperbilirubinemia, Neonatal 5090 C4016905 HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC 5091 C3279964 Hyperbiliverdinemia SMDE01457 614156 C3279964 5092 C0020437 Hypercalcemia dis_2067 5093 C0268080 Hypercalcemia, Idiopathic, of Infancy 5094 C0475732 Hypercalcemia, Infantile 5095 C4310232 Hypercalcemia, Infantile, 1 SMDE04429 143880 C4310232|C0268080 5096 C4310473 Hypercalcemia, infantile, 2 SMDE03510 616963 C4310473 5097 C0020438 Hypercalciuria dis_2069 5098 C2931105 Hypercalciuria, childhood idiopathic 5099 C3151482 HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING 5100 C0020440 Hypercapnia dis_2070 5101 C2676023 Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant SMDE04327 115300 C2676024|C2676023 5102 C4747366 Hypercholanemia 5103 C1843139 Hypercholanemia, Familial SMDE01926 607748 C1843139 5104 C0020443 Hypercholesterolemia dis_2075 DIS00389 5105 C4751204 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency SMDE01620 209902 E78.0 5106 C1863551 HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 SMDE03804 603776 C1863551|C3276239 5107 C1863512 HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE SMDE02953 603813 C1863512 5108 C0020445 Hypercholesterolemia, Familial SMDE02983 143890 C3276941|C0745103 5109 C3888316 Hypercholesterolemia, familial, due to ligand-defective apolipoprotein B 5110 C3489395 Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial 5111 C4510605 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 5112 C4551954 HYPEREKPLEXIA 1 5113 C3553291 HYPEREKPLEXIA 2 SMDE04428 614619 C3553291 5114 C3553288 HYPEREKPLEXIA 3 SMDE02533 614618 C3553288 5115 C4693933 HYPEREKPLEXIA 4 5116 C1845102 Hyperekplexia and Epilepsy 5117 C0020452 Hyperemia 5118 C1540912 Hypereosinophilic syndrome dis_2079 DIS00390 5119 C0020453 Hyperesthesia dis_2080 5120 C0751215 Hyperesthesia, Tactile 5121 C0751216 Hyperesthesia, Thermal 5122 C0234166 Hyperexplexia 5123 C1833213 Hyperferritinemia, hereditary, with congenital cataracts 5124 C0020455 Hypergammaglobulinemia 5125 C0020456 Hyperglycemia dis_2088 DIS00391 5126 C1855520 Hyperglycemia, Postprandial 5127 C3280887 HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES SMDE04938 614462 C3280887 5128 C0268561 Hyperglycinemia, Nonketotic, Type I 5129 C0268562 Hyperglycinemia, Nonketotic, Type II 5130 C0751747 Hyperglycinemia, Nonketotic, Type III 5131 C0268560 Hyperglycinemia, Transient Neonatal 5132 C0543541 HYPERGLYCINURIA (disorder) 5133 C3494522 Hypergonadotropic Ovarian Failure, X-Linked 5134 C0598608 Hyperhomocysteinemia dis_2093 5135 C4721531 HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT 5136 C4722305 HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE 5137 C3489795 Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant SMDE01261 147060 C3489795|C3887645|C2936739 5138 C0398689 Hyper-IgM Immunodeficiency Syndrome, Type 1 5139 C1720956 Hyper-IgM Immunodeficiency Syndrome, Type 2 5140 C1720957 Hyper-IgM Immunodeficiency Syndrome, Type 3 5141 C1720958 Hyper-IgM Immunodeficiency Syndrome, Type 5 5142 C1846008 HYPER-IgM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC 5143 C2936739 Hyper-Immunoglobulin E Syndrome, Autosomal Dominant 5144 C1968689 Hyper-Immunoglobulin E Syndrome, Autosomal Recessive 5145 C0272236 Hyperimmunoglobulin M syndrome 5146 C0398691 Hyperimmunoglobulinemia D DIS00392 5147 C2931832 Hyperinsulinemic hypoglycemia, familial, 1 SMDE02854 256450 C2931832|C0027773|C3888018 5148 C2931833 Hyperinsulinemic hypoglycemia, familial, 2 SMDE03814 601820 C0027773|C3888018|C2931833 5149 C1865290 Hyperinsulinemic hypoglycemia, familial, 3 SMDE03672 602485 C1865290 5150 C1864948 Hyperinsulinemic Hypoglycemia, Familial, 4 SMDE00057 609975 C1864948 5151 C1864952 Hyperinsulinemic Hypoglycemia, Familial, 5 SMDE04890 609968 C1864952 5152 C1847555 Hyperinsulinemic hypoglycemia, familial, 6 SMDE00974 606762 C1847555 5153 C1864902 Hyperinsulinemic hypoglycemia, familial, 7 SMDE04012 610021 C1864902 5154 C0020459 Hyperinsulinism dis_2099 5155 C4303475 Hyperinsulinism due to HNF1A deficiency SMDE04379 Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life. 324575 E16.1 5156 C4274078 Hyperinsulinism due to HNF4A deficiency SMDE04233 Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1; see this term). 263455 E16.1 5157 C4303082 Hyperinsulinism due to uncoupling protein 2 deficiency 5158 C0020461 Hyperkalemia dis_2101 5159 C0238357 Hyperkalemic periodic paralysis SMDE01518 Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. D020513|C535409 170500 682 G72.3 C1868433|C0238357|C2930895 5160 C3489447 Hyperkalemic Periodic Paralysis Type 2 5161 C1835666 Hyperkeratosis, diffuse palmoplantar (tylosis) 5162 C0079153 Hyperkeratosis, Epidermolytic 5163 C3887506 Hyperkinesia 5164 C0751217 Hyperkinesia, Generalized 5165 C0020473 Hyperlipidemia dis_2105 DIS00395 5166 C0020474 Hyperlipidemia, Familial Combined SMDE00277 144250 C0020474 5167 C0023817 Hyperlipoproteinemia Type I 5168 C0745103 Hyperlipoproteinemia Type IIa 5169 C1704417 Hyperlipoproteinemia Type IIb 5170 C0020479 Hyperlipoproteinemia Type III 5171 C0020480 Hyperlipoproteinemia Type IV 5172 C0020481 Hyperlipoproteinemia Type V 5173 C4014767 HYPERLIPOPROTEINEMIA, TYPE ID SMDE02059 615947 C4014767 5174 C0020476 Hyperlipoproteinemias 5175 C0268555 Hyperlysinemia, Periodic 5176 C0543533 Hyperlysinemia, type I SMDE01516 238700 C0543533 5177 C0268553 Hyperlysinemias 5178 C4310765 Hypermanganesemia with dystonia 2 5179 C2750442 Hypermanganesemia with Dystonia Polycythemia and Cirrhosis 5180 C4048705 Hypermethioninemia dis_2113 5181 C3280381 HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY SMDE02570 614300 C3280381 5182 C1847720 Hypermethioninemia due to deficiency of glycine N-methyltransferase 5183 C3668822 Hypermetria (finding) 5184 C0152093 Hypermobility syndrome 5185 C0020488 Hypernatremia dis_2117 5186 C1855925 Hyperopia, High 5187 C0599035 Hyperornithinemia dis_2120 5188 C0020492 Hyperostosis dis_2121 5189 C1840404 Hyperostosis Cranialis Interna 5190 C0020500 Hyperoxaluria dis_2122 5191 C0242706 Hyperoxia 5192 C0020502 Hyperparathyroidism dis_2125 5193 C1840402 HYPERPARATHYROIDISM 1 5194 C4479229 HYPERPARATHYROIDISM 4 5195 C1832615 HYPERPARATHYROIDISM, NEONATAL SEVERE SMDE00587 239200 C1832615 5196 C0020503 Hyperparathyroidism, Secondary 5197 C1704981 Hyperparathyroidism-Jaw Tumor Syndrome SMDE02458 145001 99880 E21.0 C1704981 5198 C0020505 Hyperphagia dis_2127 5199 C0751435 Hyperphenylalaninaemia 5200 C1849700 Hyperphenylalaninemia with primapterinuria 5201 C0268467 Hyperphenylalaninemia, BH4-Deficient, B SMDE03953 233910 C2673535|C0268467 5202 C4479270 HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT 5203 C0751436 Hyperphenylalaninemia, Non-Phenylketonuric 5204 C0268414 Hyperphosphatasemia with bone disease 5205 C1855923 Hyperphosphatasia with Mental Retardation 5206 C4551502 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 SMDE01863 239300 C1855923 5207 C3553637 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 SMDE04947 614749 C3553637 5208 C3810354 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 SMDE04774 615716 C3810354 5209 C4225201 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 SMDE03106 616809 C4225201 5210 C0085681 Hyperphosphatemia (disorder) 5211 C0162834 Hyperpigmentation 5212 C1840392 HYPERPIGMENTATION, FAMILIAL PROGRESSIVE 5213 C0282526 Hyperpipecolic Acidemia 5214 C0020507 Hyperplasia dis_2133 5215 C4296896 Hyperplastic polyposis syndrome 5216 C2713447 Hyperpotassemia and Hypertension, Familial 5217 C0342283 Hyperproinsulinemia SMDE01430 616214 C0342283 5218 C0020514 Hyperprolactinemia dis_2137 SMDE03066 5219 C2931835 Hyperprolinemia type 2 5220 C0151889 Hyperreflexia dis_2141 5221 C0020517 Hypersensitivity 5222 C0020529 Hypersomnia with Periodic Respiration 5223 C0751226 Hypersomnia, Recurrent 5224 C0020532 Hypersplenism dis_2145 5225 C1970027 Hypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility 5226 C4229651 Hypertelorism/telecanthus 5227 C1837739 Hypertension, Diastolic, Resistance to 5228 C1854631 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy SMDE00715 605115 C1854631 5229 C0018036 Hypertension, Goldblatt 5230 C0020545 Hypertension, Renovascular 5231 C0020538 Hypertensive disease dis_2150 5232 C0848548 hypertensive nephropathy 5233 C0020550 Hyperthyroidism dis_2153 5234 C1863959 Hyperthyroidism, Familial Gestational SMDE05112 603373 C1863959 5235 C1836706 Hyperthyroidism, Nonautoimmune SMDE03586 609152 C1836706 5236 C0020551 Hyperthyroxinemia 5237 C0342185 Hyperthyroxinemia, Familial Dysalbuminemic 5238 C0751325 Hypertonia, Detrusor Muscle 5239 C0751326 Hypertonia, Infantile 5240 C0751327 Hypertonia, Neonatal 5241 C0751328 Hypertonia, Sphincter 5242 C0751329 Hypertonia, Transient 5243 C0020555 Hypertrichosis dis_2158 5244 C1851120 Hypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia 5245 C1855900 HYPERTRICHOSIS, CONGENITAL GENERALIZED 5246 C0020557 Hypertriglyceridemia dis_2159 DIS00401 5247 C3280953 HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE SMDE01374 614480 C3280953 5248 C0007194 Hypertrophic Cardiomyopathy dis_2162 5249 C4749942 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 5250 C4551472 Hypertrophic obstructive cardiomyopathy 5251 C2674695 Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant 5252 C4551679 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1 SMDE00579 259100 C2678439|C0029411 5253 C3280800 HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2 SMDE04969 614441 C3280800 5254 C0020564 Hypertrophy dis_2165 5255 C0740394 Hyperuricemia dis_2168 5256 C3151209 Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome 5257 C4551496 Hyperuricemic Nephropathy, Familial Juvenile 1 5258 C2751310 Hyperuricemic Nephropathy, Familial Juvenile 2 5259 C4310741 HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 5260 C0020578 Hyperventilation dis_2170 5261 C1860229 Hyperzincemia and Hypercalprotectinemia 5262 C0020594 Hypoactive Sexual Desire Disorder 5263 C2675519 Hypoadiponectinemia 5264 C1868690 Hypoadrenocorticism, familial 5265 C0239981 Hypoalbuminemia dis_2173 5266 C0020595 Hypoaldosteronism 5267 C0376185 Hypoaldosteronism, Hyporeninemic 5268 C1704429 Hypoalphalipoproteinemia, Familial 5269 C0473527 Hypoalphalipoproteinemias 5270 C1857970 Hypobetalipoproteinemia, Familial, 2 SMDE00637 605019 C1857970 5271 C1704299 Hypobetalipoproteinemia, Familial, Apolipoprotein B dis_2175 5272 C0020598 Hypocalcemia dis_2176 5273 C3715128 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 SMDE02956 601198 C3715128|C4048195 5274 C4552089 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME 5275 C3809243 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 5276 C1832612 Hypocalcemia, Autosomal Dominant, with Bartter Syndrome 5277 C3875492 Hypocalciuric hypercalcemia 5278 C0342637 Hypocalciuric hypercalcemia, familial, type 1 5279 C1840347 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) 5280 C1833372 HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III SMDE03432 600740 C1833372 5281 C0752048 Hypocatalasemia 5282 C0542428 Hypochondrogenesis 5283 C0410529 Hypochondroplasia (disorder) 5284 C0002884 Hypochromic anemia dis_2184 5285 C0343206 Hypocomplementemic urticarial vasculitis SMDE04828 Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. 36412 M31.8 5286 C0020608 Hypodontia 5287 C0406716 Hypodontia and nail dysgenesis 5288 C0242684 Hypodynamia 5289 C0472803 Hypodysfibrinogenemia 5290 C0086438 Hypogammaglobulinemia 5291 C0020615 Hypoglycemia dis_2189 DIS00403 5292 C0271714 Hypoglycemia, leucine-induced SMDE02511 240800 C0271714 5293 C0020619 Hypogonadism dis_2194 5294 C3489396 Hypogonadism, Isolated Hypogonadotropic 5295 C0271623 Hypogonadotropic hypogonadism dis_2197 DIS00404 5296 C3553843 HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA SMDE01435 614839 C3553843 5297 C3553844 HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA SMDE01648 614840 C3553844 5298 C3541462 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA SMDE02597 614842 C3541462 5299 C3540450 HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA SMDE02006 614858 C3540450 5300 C3553977 HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA 5301 C3554021 HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 5302 C3808971 HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA SMDE03710 615266 C3808971 5303 C3808975 HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA SMDE03582 615267 C3808975 5304 C3808981 HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA SMDE02668 615269 C3808981 5305 C3808983 HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA SMDE03659 615270 C3808983 5306 C3808986 HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA SMDE03879 615271 C3808986 5307 C4014988 HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA SMDE02943 616030 C4014988 5308 C3550478 HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA SMDE00761 244200 C3550478 5309 C3552343 HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA SMDE04446 610628 C3552343 5310 C3552553 HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA SMDE04646 612370 C3552553 5311 C3552574 HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA SMDE04261 612702 C3552574 5312 C3553841 HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA SMDE01372 614837 C3553841 5313 C3553842 HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA SMDE00590 614838 C3553842 5314 C3809160 Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome 5315 C3278384 HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY SMDE04552 240900 C3278384 5316 C0020621 Hypokalemia dis_2202 5317 C0238358 Hypokalemic periodic paralysis SMDE03415 Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels. D020514 170400|613345 681 G72.3 C0238358|C0238357 5318 C3714580 Hypokalemic periodic paralysis type 1 5319 C2750061 Hypokalemic Periodic Paralysis, Type 2 SMDE00228 613345 C2750061 5320 C0086439 Hypokinesia dis_2207 5321 C0751701 Hypokinesia, Antiorthostatic 5322 C0020623 Hypolipoproteinemias 5323 C0151723 Hypomagnesemia dis_2209 5324 C1865974 Hypomagnesemia 1, Intestinal SMDE02867 602014 C1321780|C1865974 5325 C1835171 Hypomagnesemia 2, renal SMDE00706 154020 C1835171 5326 C2673648 Hypomagnesemia 4, Renal SMDE02803 611718 C2673648 5327 C1855466 Hypomagnesemia 5, Renal, with Ocular Involvement SMDE00883 248190 C1855466 5328 C4721891 HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT 5329 C3151295 HYPOMAGNESEMIA 6, RENAL SMDE01755 613882 C3151295 5330 C4552839 Hypomagnesemia, CTCAE 5331 C4225333 HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION SMDE05120 616418 C4225333 5332 C4478871 Hypomineralized amelogenesis imperfecta 5333 C1864663 HYPOMYELINATION AND CONGENITAL CATARACT 5334 C3809008 HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY SMDE02062 615281 C3809008 5335 C2751855 Hypomyelination, Global Cerebral 5336 C0020625 Hyponatremia dis_2210 DIS00406 5337 C0020626 Hypoparathyroidism dis_2212 5338 C0342344 Hypoparathyroidism - X-linked 5339 C1832648 Hypoparathyroidism familial isolated 5340 C1855840 HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME SMDE00232 241410 C1855840 5341 C0020630 Hypophosphatasia 5342 C2673477 Hypophosphatasia, Perinatal Lethal 5343 C0085682 Hypophosphatemia dis_2214 5344 C1704375 Hypophosphatemic Rickets dis_2215 5345 C1853271 HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY SMDE04178 241530 C1853271 5346 C4551495 Hypophosphatemic Rickets, Autosomal Recessive, 1 SMDE01584 241520 C0342643 5347 C2750078 Hypophosphatemic Rickets, Autosomal Recessive, 2 SMDE01246 613312 C2750078 5348 C0733682 Hypophosphatemic Rickets, X-Linked Dominant SMDE04546 307800 C0733682|C3536984 5349 C1845168 Hypophosphatemic Rickets, X-Linked Recessive SMDE00893 300554 C1845168 5350 C0162835 Hypopigmentation disorder 5351 C0398794 Hypopigmentation-immunodeficiency disease 5352 C0020635 Hypopituitarism dis_2219 5353 C2930844 Hypopituitarism and septooptic 'dysplasia' 5354 C0344482 Hypoplasia of corpus callosum 5355 C2678488 Hypoplasia of terminal phalanges 5356 C0338502 Hypoplasia of the optic nerve 5357 C0431890 Hypoplasia of thumb 5358 C4229584 Hypoplasia or aplasia of radius, unilateral 5359 C0398621 Hypoplasminogenemia SMDE00131 Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing. 217090 722 L90.5 C0398621|C1968804 5360 C0178416 Hypoplastic anemia dis_2222 5361 C0406735 Hypoplastic enamel-onycholysis-hypohidrosis syndrome 5362 C0152101 Hypoplastic Left Heart Syndrome SMDE03896 Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addit, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. D018636 614435|241550 2248 Q23.4 C0152101 5363 C4551854 HYPOPLASTIC LEFT HEART SYNDROME 1 SMDE04155 241550 C0152101 5364 C3280795 HYPOPLASTIC LEFT HEART SYNDROME 2 SMDE04629 614435 C3280795 5365 C1867000 Hypoplastic/absent/deformed radius 5366 C1720772 Hypoprebetalipoproteinemia 5367 C1846582 Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration SMDE03649 607236 C1846582 5368 C1855796 Hypoproteinemia, Hypercatabolic 5369 C4722227 Hypoprothrombinemias 5370 C0151888 Hyporeflexia 5371 C0848558 Hypospadias dis_2231 5372 C2678098 Hypospadias 1, X-Linked SMDE01853 300633 C2678098 5373 C2677879 Hypospadias 2, X-Linked SMDE04422 300758 C2677879 5374 C1863870 Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 5375 C0020649 Hypotension dis_2233 DIS00407 5376 C0020651 Hypotension, Orthostatic 5377 C0342418 Hypothalamic hamartomas 5378 C0220998 Hypothalamic hypothyroidism dis_2237 5379 C0020672 Hypothermia, natural 5380 C0020676 Hypothyroidism dis_2241 5381 C3550963 HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT SMDE02242 300888 C3550963 5382 C1869118 HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS 5383 C3493776 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 SMDE01903 275200 C3493776 5384 C0271789 Hypothyroidism, Congenital, Nongoitrous, 4 SMDE01080 275100 C1848794|C4082174|C3665349|C0271789 5385 C2673630 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) 5386 C3280817 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 SMDE00493 614450 C3280817 5387 C1968699 Hypothyroidism, Thyroidal, With Spiky Hair And Cleft Palate 5388 C4310618 HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 5389 C4693578 HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 5390 C4225196 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION SMDE04804 616816 C4225196 5391 C3809454 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 SMDE03160 615419 C3809454 5392 C4225203 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 SMDE04488 616801 C4225203 5393 C4225161 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 SMDE02469 616900 C4225161 5394 C1848030 Hypotonia-Cystinuria Syndrome SMDE02793 Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormonee deficiency, and minor facial dysmorphism. 606407 163690 E72.0 C1848030 5395 C0020678 Hypotrichosis dis_2242 5396 C4551976 HYPOTRICHOSIS 1 SMDE02061 605389 C1854310 5397 C3554409 HYPOTRICHOSIS 11 SMDE03681 615059 C3554409 5398 C4014563 HYPOTRICHOSIS 12 SMDE02137 615885 C4014563 5399 C4014616 HYPOTRICHOSIS 13 SMDE01306 615896 C4014616 5400 C4748930 HYPOTRICHOSIS 14 5401 C3151432 HYPOTRICHOSIS 3 SMDE01801 613981 C3151432 5402 C1842839 HYPOTRICHOSIS 6 SMDE03078 607903 C1842839 5403 C3279470 HYPOTRICHOSIS 8 SMDE00311 278150 C3279470|C1848435 5404 C2751292 Hypotrichosis And Recurrent Skin Vesicles 5405 C1854310 Hypotrichosis simplex SMDE03621 Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. C537160 614238|614237|615059|615885|604379|278150|605389 55654 L65.8 C1854310 5406 C1840299 Hypotrichosis Simplex of Scalp 5407 C1832162 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY SMDE04853 601553 C1832162 5408 C4317151 Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome 5409 C1843004 HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME SMDE05199 607823 C1843004 5410 C2677549 Hypouricemia, Renal, 2 SMDE02314 612076 C2677551|C2677550|C2677549 5411 C3203358 Hypoventilation dis_2248 5412 C0020683 Hypovolemic Shock 5413 C0700292 Hypoxemia dis_2249 5414 C0242184 Hypoxia 5415 C0752308 Hypoxia-Ischemia, Brain 5416 C1140716 Hypoxic Brain Damage 5417 C0752304 Hypoxic-Ischemic Encephalopathy dis_2251 DIS00410 5418 C0684276 Hypsarrhythmia dis_2252 5419 C0233750 Hysterical amnesia 5420 C0020757 Ichthyoses 5421 C0079583 Ichthyosiform Erythroderma, Congenital 5422 C1855792 ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1 5423 C0432306 Ichthyosis Bullosa of Siemens SMDE04631 146800 C1838440|C0432306 5424 C4551630 Ichthyosis Congenita I 5425 C3536797 Ichthyosis Congenita II 5426 C1838440 ICHTHYOSIS EXFOLIATIVA 5427 C1839988 Ichthyosis follicularis atrichia photophobia syndrome 5428 C0432307 Ichthyosis hystrix of Curth-Macklin SMDE01375 Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis (see this term) that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK, see this term) C536088 146590 79503 Q80.8 C0432307|C1840296 5429 C1840296 Ichthyosis hystrix, Curth Macklin type 5430 C0265962 Ichthyosis linearis circumflexa 5431 C1837610 ICHTHYOSIS PREMATURITY SYNDROME 5432 C0079584 Ichthyosis Vulgaris SMDE02693 146700 C0079584 5433 C1835851 Ichthyosis with hypotrichosis, autosomal recessive 5434 C3554355 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 SMDE03776 615024 C3554355 5435 C4310621 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12 SMDE01169 617320 C4310621 5436 C4539772 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 5437 C4539754 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 5438 C3888093 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 SMDE00941 242100 C3888093|C1855789 5439 C3539888 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 SMDE00552 606545 C3539888 5440 C2677065 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 SMDE03921 612281 C2677065 5441 C3553029 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8 SMDE02536 613943 C3553029 5442 C3554349 ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 SMDE04557 615023 C3554349 5443 C1843463 Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis SMDE02277 607602 C1843463 5444 C1865234 ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS SMDE00636 602540 C1865234 5445 C1858142 ICHTHYOSIS, LAMELLAR, 3 5446 C1847849 ICHTHYOSIS, LAMELLAR, 5 5447 C1843355 ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS SMDE02471 607626 C1843355 5448 C1858133 Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 5449 C3280856 ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 5450 C0079588 Ichthyosis, X-Linked SMDE04628 308100 C2677713|C0079588|C2720163|C2717836 5451 C1566050 Icterus Gravis Neonatorum 5452 C0234526 Ideational Apraxia 5453 C0859976 Idiopathic achalasia of esophagus 5454 C0264955 Idiopathic arterial calcification of infancy 5455 C0543663 Idiopathic Autoimmune Hemolytic Anemia 5456 C4551624 Idiopathic basal ganglia calcification 1 5457 C0339985 Idiopathic bronchiectasis 5458 C0342544 Idiopathic central precocious puberty 5459 C3489572 Idiopathic Extrahepatic Biliary Atresia 5460 C0393598 Idiopathic familial dystonia 5461 C0270850 Idiopathic generalized epilepsy 5462 C0543800 Idiopathic hypercalciuria SMDE02500 143870|607258 2197 E83.5 C0543800 5463 C0020800 Idiopathic Hypercatabolic Hypoproteinemia 5464 C0206141 Idiopathic Hypereosinophilic Syndrome 5465 C0700053 Idiopathic hypertrophic subaortic stenosis 5466 C0342384 Idiopathic hypogonadotropic hypogonadism 5467 C0342342 Idiopathic Hypoparathyroidism 5468 C0751356 Idiopathic Inflammatory Myopathies 5469 C0086445 Idiopathic Membranous Glomerulonephritis 5470 C0338478 Idiopathic Myoclonic Epilepsy 5471 C3496337 Idiopathic Nephrotic Syndrome 5472 C3203102 Idiopathic pulmonary arterial hypertension 5473 C1800706 Idiopathic Pulmonary Fibrosis dis_2255 DIS00411 5474 C0152171 Idiopathic pulmonary hypertension 5475 C4016470 IFAP SYNDROME 5476 C0017661 IGA Glomerulonephritis 5477 C4225194 IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 5478 C1840253 IgE RESPONSIVENESS, ATOPIC SMDE03599 147050 C0020523|C0236175|C1840253|C1840254 5479 C0162539 IgG Deficiency disorder 5480 C0949272 IIeocolitis 5481 C0020877 Ileitis 5482 C0268654 Iminoglycinuria SMDE04639 242600 C0268654 5483 C3148959 IMINOGLYCINURIA, DIGENIC 5484 C0020523 Immediate hypersensitivity dis_2264 5485 C0393729 Immersion Related Epilepsy 5486 C0020951 Immune Complex Diseases 5487 C1441613 Immune diffusion 5488 C0751872 Immune Disorders, Nervous System 5489 C2748568 Immune dysfunction with T-cell inactivation due to calcium entry defect 1 5490 C2748557 Immune dysfunction with T-cell inactivation due to calcium entry defect 2 5491 C1844666 Immune dysregulation dis_2266 5492 C0455990 Immune Hydrops Fetalis 5493 C0021053 Immune System Diseases 5494 C0398650 Immune thrombocytopenic purpura SMDE02576 100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia. D016553 188030 3002 D69.3 C0398650 5495 C3554686 IMMUNODEFICIENCY 11 SMDE00383 615206 C3554686 5496 C4539957 IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS 5497 C3809583 IMMUNODEFICIENCY 12 SMDE01491 615468 C3809583 5498 C3809768 IMMUNODEFICIENCY 13 SMDE02074 615518 C3809768 5499 C4748694 IMMUNODEFICIENCY 15A 5500 C4747743 IMMUNODEFICIENCY 15B 5501 C3810053 IMMUNODEFICIENCY 16 SMDE05042 615593 C3810053 5502 C3810107 IMMUNODEFICIENCY 17 SMDE04946 615607 C3810107 5503 C3810127 IMMUNODEFICIENCY 18 SMDE04743 615615 C3810129|C3810127|C3810128 5504 C3810129 IMMUNODEFICIENCY 18, SCID VARIANT 5505 C3810147 IMMUNODEFICIENCY 19 SMDE03161 615617 C3810147 5506 C3810342 IMMUNODEFICIENCY 20 SMDE02897 615707 C3810342 5507 C4014233 IMMUNODEFICIENCY 22 SMDE02120 615758 C4014233 5508 C4014371 IMMUNODEFICIENCY 23 SMDE03826 615816 C4014371 5509 C4014617 IMMUNODEFICIENCY 24 SMDE01520 615897 C4014617 5510 C4014833 IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES SMDE00729 615966 C4014833 5511 C4011949 IMMUNODEFICIENCY 27A SMDE04370 209950 C4011949 5512 C4014863 IMMUNODEFICIENCY 27B SMDE02163 615978 C4014863 5513 C4013947 IMMUNODEFICIENCY 28 SMDE04094 614889 C4013947 5514 C4013948 IMMUNODEFICIENCY 29 SMDE02273 614890 C4013948 5515 C4013949 IMMUNODEFICIENCY 30 SMDE02066 614891 C4013949 5516 C4013950 IMMUNODEFICIENCY 31A SMDE01786 614892 C4013950 5517 C3151088 IMMUNODEFICIENCY 31B SMDE03317 613796 C3151088 5518 C3808589 IMMUNODEFICIENCY 32A SMDE01276 614893 C3808589 5519 C4016741 IMMUNODEFICIENCY 32B SMDE01334 614894 C4016741 5520 C4014934 IMMUNODEFICIENCY 36 SMDE05031 616005 C4014934 5521 C4015195 IMMUNODEFICIENCY 37 SMDE04764 616098 C4015195 5522 C4015293 IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION SMDE01208 616126 C4015293 5523 C4225358 IMMUNODEFICIENCY 39 SMDE00909 616345 C4225358 5524 C4225328 IMMUNODEFICIENCY 40 SMDE00152 616433 C4225328 5525 C4225266 IMMUNODEFICIENCY 42 5526 C4225260 IMMUNODEFICIENCY 44 SMDE00197 616636 C4225260 5527 C4225252 IMMUNODEFICIENCY 45 5528 C4225219 IMMUNODEFICIENCY 46 SMDE00772 616740 C4225219 5529 C4310819 IMMUNODEFICIENCY 47 5530 C4310656 IMMUNODEFICIENCY 49 5531 C4310812 IMMUNODEFICIENCY 50 5532 C4310803 IMMUNODEFICIENCY 51 SMDE03793 613953 C4310803 5533 C4479588 IMMUNODEFICIENCY 52 5534 C4539811 IMMUNODEFICIENCY 53 5535 C4693356 IMMUNODEFICIENCY 55 5536 C3554687 IMMUNODEFICIENCY 56 5537 C4748212 IMMUNODEFICIENCY 57 5538 C4748304 IMMUNODEFICIENCY 58 5539 C3809383 IMMUNODEFICIENCY 8 SMDE01759 615401 C3809383 5540 C1861284 Immunodeficiency due to Defect in CD3-Epsilon 5541 C1857798 Immunodeficiency due to Defect in CD3-Zeta 5542 C1835829 Immunodeficiency due to Defect in MAPBP-Interacting Protein SMDE02014 610798 C1835829 5543 C0398788 Immunodeficiency syndrome, variable 5544 C1845117 Immunodeficiency without anhidrotic ectodermal dysplasia SMDE01129 300584 C1845117 5545 C3149378 IMMUNODEFICIENCY, COMMON VARIABLE, 1 SMDE00644 607594 C0009447|C3149378 5546 C3809991 IMMUNODEFICIENCY, COMMON VARIABLE, 10 SMDE04398 615577 C3809991 5547 C4014258 IMMUNODEFICIENCY, COMMON VARIABLE, 11 SMDE04387 615767 C4014258 5548 C4225277 IMMUNODEFICIENCY, COMMON VARIABLE, 12 SMDE01952 616576 C4225277 5549 C4225173 IMMUNODEFICIENCY, COMMON VARIABLE, 13 SMDE04031 616873 C4225173 5550 C4540380 IMMUNODEFICIENCY, COMMON VARIABLE, 14 5551 C3150354 IMMUNODEFICIENCY, COMMON VARIABLE, 2 SMDE02096 240500 C3150354 5552 C3150739 IMMUNODEFICIENCY, COMMON VARIABLE, 4 SMDE03174 613494 C3150739 5553 C3150740 IMMUNODEFICIENCY, COMMON VARIABLE, 5 SMDE05034 613495 C3150740 5554 C3150741 IMMUNODEFICIENCY, COMMON VARIABLE, 6 SMDE04606 613496 C3150741 5555 C3542922 IMMUNODEFICIENCY, COMMON VARIABLE, 7 SMDE03910 614699 C3542922 5556 C3553512 IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY SMDE04987 614700 C3553512 5557 C4540293 IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 5558 C4551557 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 SMDE04161 242860 C0398788 5559 C3279748 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 SMDE05021 614069 C3279748 5560 C4310799 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 SMDE02250 616910 C4310799 5561 C4310798 IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 SMDE01819 616911 C4310798 5562 C0162538 Immunoglobulin A deficiency (disorder) 5563 C1836032 Immunoglobulin a deficiency 2 SMDE02901 609529 C1836032 5564 C2936665 Immunoglobulin Deficiency, Late-Onset 5565 C0021051 Immunologic Deficiency Syndromes 5566 C4479452 IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 5567 C0338656 Impaired cognition 5568 C0271650 Impaired glucose tolerance 5569 C0752255 Impairment, Light Touch Sensation 5570 C0021124 Impulse-Ridden Personality 5571 C4553298 Impulsive Petit Mal Epilepsy 5572 C1292231 In(Lu) phenotype (finding) 5573 C0021139 Inadequate Personality 5574 C0751220 Inappropriate ACTH Secretion Syndrome 5575 C0021141 Inappropriate ADH Syndrome 5576 C0025521 Inborn Errors of Metabolism 5577 C1854106 INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT 5578 C1833662 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 5579 C4551951 Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 SMDE01684 167320 C1833662 5580 C3809468 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 SMDE00268 615422 C3809468 5581 C3809469 INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3 SMDE04658 615424 C3809469 5582 C1833373 Inclusion Body Myopathy, Autosomal Recessive 5583 C0751713 Inclusion Body Myopathy, Sporadic 5584 C0238190 Inclusion Body Myositis (disorder) 5585 C0302356 incomplete anencephaly, hemicrania 5586 C0022283 Incontinentia Pigmenti Achromians 5587 C0236175 Increased IgE level dis_2337 5588 C4023676 Increased nuchal translucency 5589 C3888131 INCREASED RESPONSIVENESS TO GROWTH HORMONE 5590 C1867013 Increased risk of sudden cardiac death 5591 C1836440 Increased serum lactate dis_2397 5592 C1390474 Increased susceptibility to fractures dis_2404 5593 C4228779 Increased susceptibility to malignancy 5594 C2673482 Increased susceptibility to schizophrenia 5595 C1855739 Indifference to Pain, Congenital, Autosomal Recessive SMDE00582 243000 C4012054|C1855739 5596 C1565886 Indirect Hyperbilirubinemia, Neonatal 5597 C0272203 Indolent Systemic Mastocytosis 5598 C0086457 Industrial Dermatosis 5599 C0549159 Infant Death 5600 C1449721 Infant Gynecomastia 5601 C4704955 Infant Overweight 5602 C0021295 Infant, Premature, Diseases 5603 C3281192 INFANTILE CEREBELLAR-RETINAL DEGENERATION SMDE01382 614559 C3281192 5604 C1865926 Infantile convulsions and paroxysmal choreoathetosis, familial (disorder) 5605 C1856408 Infantile encephalopathy dis_2421 5606 C0751273 Infantile Globoid Cell Leukodystrophy 5607 C4317089 Infantile hemangioma 5608 C0268412 Infantile hypophosphatasia 5609 C3809522 INFANTILE LIVER FAILURE SYNDROME 1 SMDE02078 615438 C3809522 5610 C3809651 INFANTILE LIVER FAILURE SYNDROME 2 5611 C1318518 Infantile malignant osteopetrosis 5612 C0432284 Infantile myofibromatosis SMDE00453 Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts. 615293|228550 2591 D48.1 C0432284 5613 C0270724 Infantile Neuroaxonal Dystrophy SMDE02660 Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two. 256600|610217 35069 G23.0 C0270724 5614 C0268281 Infantile neuronal ceroid lipofuscinosis 5615 C2673809 Infantile nystagmus 5616 C4553478 Infantile Obesity 5617 C1849096 Infantile onset spinocerebellar ataxia SMDE00239 Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. C535523 271245 1186 G11.1 C1849096 5618 C1527258 Infantile paralysis 5619 C0282527 Infantile Refsum Disease (disorder) 5620 C0751490 Infantile Sandhoff Disease 5621 C0751122 Infantile Severe Myoclonic Epilepsy 5622 C1096902 Infantile Sialic Acid Storage Disease SMDE04413 269920 C2930923|C1096902 5623 C4750853 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 5624 C0021308 Infarction 5625 C0740392 Infarction, Middle Cerebral Artery dis_2426 5626 C3714514 Infection SMDE05229 Invasion of the host organism by microorganisms that can cause pathological conditions or diseases. D007239 C3714514 5627 C0040954 Infection by Trichuris trichiura 5628 C3534585 Infection caused by Norovirus 5629 C0002631 Infection of amniotic cavity 5630 C0205671 Infections, Arenavirus 5631 C0206044 Infections, Calicivirus 5632 C3151062 INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS SMDE05133 613759 C3151062 5633 C0158353 Infectious Myositis 5634 C0021359 Infertility dis_2428 5635 C3165106 Infiltrating duct carcinoma of female breast 5636 C0021368 Inflammation dis_2430 DIS00416 5637 C1970207 Inflammatory Bowel Disease 10 5638 C2677101 Inflammatory Bowel Disease 13 5639 C2677100 Inflammatory Bowel Disease 14 5640 C2677091 Inflammatory Bowel Disease 17 5641 C2677079 Inflammatory Bowel Disease 19 5642 C2675508 INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE SMDE00174 612567 C2675508 5643 C2751053 INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE SMDE01909 613148 C2751053 5644 C4748083 INFLAMMATORY BOWEL DISEASE 29 5645 C4748708 INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY 5646 C0021390 Inflammatory Bowel Diseases 5647 C0278601 Inflammatory Breast Carcinoma 5648 C0333355 Inflammatory disease of mucous membrane 5649 C0473574 Inflammatory linear verrucous epidermal nevus 5650 C0334121 Inflammatory Myofibroblastic Tumor 5651 C3280501 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 SMDE02877 614328 C3280501 5652 C4015130 INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 SMDE01371 616069 C4015130 5653 C0021400 Influenza 5654 C4049767 Infusion pump Alert priority PN 5655 C1563731 Inguinal Cryptorchidism 5656 C0019295 Inguinal Hernia, Direct 5657 C0019296 Inguinal Hernia, Indirect 5658 C4707228 Inherited acute myeloid leukemia 5659 C0020640 Inherited Factor II deficiency 5660 C4707238 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency SMDE02275 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. 289548 E27.1 5661 C0598589 Inherited neuropathies 5662 C2932678 Inherited Peripheral Neuropathy 5663 C0152234 Iniencephaly 5664 C0274859 Inorganic Mercury Poisoning 5665 C0342800 Inosine Triphosphatase Deficiency 5666 C0004048 Inspiration function 5667 C0751505 Insufficient Sleep Syndrome 5668 C0021655 Insulin Resistance dis_2463 DIS00430 5669 C0342336 Insulin resistance - type A 5670 C4016701 INSULIN RESISTANCE, SEVERE, DIGENIC 5671 C0920563 Insulin Sensitivity 5672 C0342288 Insulin-dependent diabetes mellitus secretory diarrhea syndrome 5673 C1837475 Insulin-Like Growth Factor I Deficiency SMDE00419 608747 C1837475 5674 C0021670 insulinoma dis_2465 SMDE00404 5675 C4748658 INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 5676 C1853755 INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY 5677 C4310682 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 5678 C4748135 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 5679 C4310617 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 5680 C4479520 INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES 5681 C4479517 INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 5682 C4748381 INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 5683 C4748428 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY 5684 C4479636 INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES 5685 C4748041 INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA 5686 C4310833 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN 5687 C4748152 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 5688 C4749019 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 5689 C4749033 INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68 5690 C3714756 Intellectual Disability dis_2466 5691 C2930924 Interferon gamma, receptor 1, deficiency 5692 C0432122 Interfrontal craniofaciosynostosis 5693 C2748507 INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY 5694 C1853392 Interleukin 2 Receptor, Alpha, Deficiency of 5695 C1621920 Intermediate Maple Syrup Urine Disease 5696 C0021776 Intermittent Explosive Disorder 5697 C0149910 Intermittent joint effusion 5698 C0268569 Intermittent Maple Syrup Urine Disease 5699 C0234372 Intermittent Tremor 5700 C0750986 Internal Carotid Artery Diseases 5701 C0340569 Internal Carotid Artery Stenosis 5702 C0750990 Internal Carotid Artery Thrombosis 5703 C0339693 Internal Ophthalmoplegia 5704 C2930618 Intersex Conditions 5705 C0282488 Interstitial Cystitis dis_2486 5706 C4225400 INTERSTITIAL LUNG AND LIVER DISEASE SMDE04449 615486 C4225400 5707 C3553636 INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL SMDE02715 614748 C3553636 5708 C3553774 INTERSTITIAL NEPHRITIS, KARYOMEGALIC SMDE00531 614817 C3553774 5709 C0158266 Intervertebral Disc Degeneration dis_2489 5710 C0158252 Intervertebral disc disorder 5711 C0021818 Intervertebral Disk Displacement 5712 C0346627 Intestinal Cancer 5713 C0021831 Intestinal Diseases 5714 C4275062 Intestinal epithelial dysplasia 5715 C0021841 Intestinal Neoplasms dis_2496 5716 C0021843 Intestinal Obstruction dis_2497 5717 C0021845 Intestinal Perforation dis_2498 5718 C1257915 Intestinal Polyposis dis_2499 5719 C0021846 Intestinal Polyps dis_2500 5720 C0021847 Intestinal Pseudo-Obstruction dis_2501 5721 C0242497 Intestinal schistosomiasis 5722 C2931787 Intracardiac myxoma 5723 C0007766 Intracranial Aneurysm 5724 C0007772 Intracranial Arteriovenous Malformation 5725 C0751008 Intracranial Arteriovenous Malformation, Ruptured 5726 C0750936 Intracranial Astrocytoma 5727 C0007781 Intracranial Embolism and Thrombosis 5728 C0751797 Intracranial Hematoma, Traumatic 5729 C0151699 Intracranial Hemorrhage dis_2505 5730 C0151740 Intracranial Hypertension 5731 C0349604 Intracranial Meningioma 5732 C0751501 Intracranial Sinus Thrombophlebitis 5733 C0752143 Intracranial Thrombosis 5734 C0878500 Intraepithelial Neoplasia 5735 C1855284 Intrahepatic biliary atresia 5736 C0345905 Intrahepatic Cholangiocarcinoma dis_2509 5737 C0008372 Intrahepatic Cholestasis dis_2510 DIS00435 5738 C1334261 Intraorbital Meningioma 5739 C4230888 Intrauterine growth restriction (IUGR) 5740 C1846009 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies SMDE00569 614732 C1846009 5741 C0235574 Intravascular hemolysis 5742 C1334271 Intraventricular Meningioma 5743 C1394891 Intrinsic Factor Deficiency SMDE03011 261000 C1394891 5744 C1134719 Invasive Ductal Breast Carcinoma 5745 C1835828 Invasive Pneumococcal Disease, Recurrent Isolated, 1 SMDE02391 610799 C1835828|C1970686 5746 C1845073 INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2 (disorder) 5747 C0427086 Involuntary Movements dis_2517 5748 C1527384 Involuntary Quiver 5749 C0011574 Involutional Depression 5750 C1571983 Involutional paraphrenia 5751 C2750949 Iodide organification defect 5752 C1843256 IRAK4 Deficiency SMDE01342 607676 C1843256 5753 C0266525 Irido-corneal dysgenesis 5754 C0344559 Irido-corneo-trabecular dysgenesis (disorder) 5755 C1866560 IRIDOGONIODYSGENESIS, TYPE 1 (disorder) 5756 C1842031 IRIDOGONIODYSGENESIS, TYPE 2 5757 C1855722 Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 5758 C1839928 IRIS HYPOPLASIA WITH GLAUCOMA 5759 C0162316 Iron deficiency anemia dis_2526 5760 C0012715 Iron Metabolism Disorders 5761 C0282193 Iron Overload dis_2528 5762 C1851316 Iron Overload, Autosomal Dominant 5763 C0085576 Iron-Refractory Iron Deficiency Anemia SMDE03411 206200 C0085576 5764 C4552810 Irritability, CTCAE 5765 C0022104 Irritable Bowel Syndrome dis_2532 DIS00438 5766 C2930833 Irritable heart 5767 C0022107 Irritable Mood 5768 C2700617 Irritation - emotion 5769 C0271178 Irvine-Gass Syndrome 5770 C0242287 Isaacs syndrome 5771 C0022116 Ischemia dis_2534 DIS00441 5772 C0948008 Ischemic stroke dis_2541 DIS00445 5773 C1578917 Islet cell adenomatosis 5774 C0242363 Islet Cell Tumor 5775 C1969809 Isobutyryl-CoA dehydrogenase deficiency SMDE01243 611283 C1969809 5776 C3711376 Isodicentric Chromosome 15 Syndrome 5777 C4751434 Isolated asymptomatic elevation of creatine phosphokinase 5778 C4757950 Isolated ATP synthase deficiency 5779 C4509020 Isolated bone marrow mastocytosis 5780 C2748571 Isolated Growth Hormone Deficiency, Type IB SMDE05137 612781 C2748571 5781 C0271567 Isolated Growth Hormone Deficiency, Type II SMDE02057 173100 C0271567 5782 C4722273 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV 5783 C4748435 ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V 5784 C1840437 Isolated hyperchlorhidrosis 5785 C1848587 Isolated hypoplasia of the right ventricle 5786 C0271582 Isolated lutropin deficiency (disorder) 5787 C3714796 Isolated somatotropin deficiency 5788 C0268575 Isovaleryl-CoA dehydrogenase deficiency 5789 C4283841 ITK Deficiency 5790 C4693848 JABERI-ELAHI SYNDROME 5791 C0553558 Jackknife Seizures 5792 C0022333 Jacksonian Seizure 5793 C0795998 JACKSON-WEISS SYNDROME SMDE04458 Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynosis with facial anomalies. Hands are normal in affected patients. C537559 123150 1540 Q87.8 C0795998 5794 C0795841 Jacobsen Distal 11q Deletion Syndrome 5795 C3495589 Jalili syndrome SMDE02869 Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term). 217080 1873 H35.5 C3495589|C2931074 5796 C1834569 Jankovic Rivera syndrome 5797 C0265295 Jansen type metaphyseal chondrodysplasia 5798 C0265343 Jarcho-Levin syndrome 5799 C0022350 Jaundice, Chronic Idiopathic 5800 C0022354 Jaundice, Obstructive 5801 C0022360 Jaw Abnormalities 5802 C1855705 Jejunal Atresia with Microcephaly and Ocular Anomalies 5803 C1839564 Jensen syndrome 5804 C0271389 Jerk Nystagmus 5805 C4551509 Jervell And Lange-Nielsen Syndrome 1 SMDE01022 220400 C0022387 5806 C2676723 JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder) 5807 C0022387 Jervell-Lange Nielsen Syndrome 5808 C0265275 Jeune thoracic dystrophy 5809 C3887645 Job Syndrome 5810 C0175692 Johanson-Blizzard syndrome SMDE04479 Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. C535880 243800 2315 Q87.8 C0175692 5811 C0022410 Joint Instability 5812 C0086437 Joint laxity dis_2553 5813 C4540020 JOINT LAXITY, SHORT STATURE, AND MYOPIA 5814 C4551568 Joubert syndrome 1 SMDE02827 213300 C0431399 5815 C2749019 JOUBERT SYNDROME 10 (disorder) 5816 C3280031 JOUBERT SYNDROME 13 SMDE03407 614173 C3280031 5817 C3280766 JOUBERT SYNDROME 14 SMDE00206 614424 C3280766 5818 C3280897 JOUBERT SYNDROME 15 SMDE01867 614464 C3280897|C3280898|C3280899 5819 C3280906 JOUBERT SYNDROME 16 SMDE02880 614465 C3280906 5820 C3553264 JOUBERT SYNDROME 17 SMDE03604 614615 C3553264 5821 C3553758 JOUBERT SYNDROME 18 SMDE00998 614815 C3553758 5822 C3553846 JOUBERT SYNDROME 19 5823 C1842577 JOUBERT SYNDROME 2 SMDE02495 608091 C1842577 5824 C3554235 JOUBERT SYNDROME 20 SMDE02172 614970 C3554235 5825 C3810212 JOUBERT SYNDROME 21 SMDE02601 615636 C3810212 5826 C3810278 JOUBERT SYNDROME 22 SMDE04952 615665 C3810278 5827 C4084822 JOUBERT SYNDROME 23 SMDE04469 616490 C4084822 5828 C4084841 JOUBERT SYNDROME 24 SMDE04989 616654 C4084841 5829 C4084842 JOUBERT SYNDROME 25 SMDE01340 616781 C4084842 5830 C4310706 JOUBERT SYNDROME 27 5831 C4310705 JOUBERT SYNDROME 28 5832 C1837713 JOUBERT SYNDROME 3 SMDE04918 608629 C1837713 5833 C4539937 JOUBERT SYNDROME 30 5834 C4540355 JOUBERT SYNDROME 31 5835 C4540342 JOUBERT SYNDROME 32 5836 C4540389 JOUBERT SYNDROME 33 5837 C4748442 JOUBERT SYNDROME 35 5838 C1846790 JOUBERT SYNDROME 4 (disorder) 5839 C1857780 JOUBERT SYNDROME 5 SMDE02276 610188 C1857780 5840 C1853153 JOUBERT SYNDROME 6 SMDE03342 610688 C1853153 5841 C1969053 JOUBERT SYNDROME 7 SMDE02888 611560 C1969053 5842 C2676771 JOUBERT SYNDROME 8 (disorder) 5843 C2676788 JOUBERT SYNDROME 9 (disorder) 5844 C4518774 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 5845 C4274118 Joubert syndrome with ocular defect SMDE01737 Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JSassociated with retinal dystrophy. 614970|614424|617121|608629|614464 220493 Q04.3|H35.5 5846 C0796003 Juberg-Marsidi syndrome 5847 C0079301 Junctional Epidermolysis Bullosa 5848 C4317339 Juvenile Absence Epilepsy SMDE00282 Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevaalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. C535495 607631 1941 G40.3 C2930918 5849 C3468114 Juvenile amyotrophic lateral sclerosis SMDE01573 Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. 614373|205100|602099 300605 G12.2 5850 C3495559 Juvenile arthritis 5851 C0268060 Juvenile hemochromatosis 5852 C0751208 Juvenile Huntington Disease 5853 C4282180 Juvenile macular degeneration 5854 C0349639 Juvenile Myelomonocytic Leukemia SMDE01782 607785 C0349639|C0023480 5855 C0270853 Juvenile Myoclonic Epilepsy 5856 C4551857 Juvenile Myoclonic Epilepsy of Janz 5857 C0268626 Juvenile nephropathic cystinosis (disorder) 5858 C0751717 Juvenile Neuroaxonal Dystrophy 5859 C0751383 Juvenile Neuronal Ceroid Lipofuscinosis 5860 C0264080 Juvenile osteoporosis 5861 C2931171 Juvenile pauciarticular chronic arthritis 5862 C0280783 Juvenile Pilocytic Astrocytoma 5863 C1868081 Juvenile Polyposis Coli 5864 C1832940 JUVENILE POLYPOSIS OF STOMACH 5865 C0345893 Juvenile polyposis syndrome SMDE02255 174900 C1868081|C0345893|C1832940 5866 C1832942 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 5867 C3714758 Juvenile psoriatic arthritis 5868 C0751595 Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease 5869 C0751491 Juvenile Sandhoff Disease 5870 C0152109 Juvenile Spinal Muscular Atrophy 5871 C1846331 Juvenile-onset dystonia 5872 C0087031 Juvenile-Onset Still Disease 5873 C2745945 Juvenile-Onset Vitelliform Macular Dystrophy 5874 C0796004 Kabuki make-up syndrome 5875 C3275495 KABUKI SYNDROME 2 SMDE03470 300867 C3275495 5876 C2675185 Kahrizi Syndrome SMDE02036 612713 C2675185 5877 C1835808 Kallikrein, Decreased Urinary Activity of 5878 C0162809 Kallmann Syndrome SMDE03648 Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). 147950|308700|614837|610628|615266|6|614858|244200|615271|616030 478 E23.0 5879 C1563719 Kallmann Syndrome 1 5880 C1563720 Kallmann Syndrome 2 (disorder) 5881 C2930927 Kallmann syndrome, type 3, recessive 5882 C0022492 Kandinsky Syndrome 5883 C0036220 Kaposi Sarcoma 5884 C1367420 Kaposiform Hemangioendothelioma 5885 C3279824 Kappa-Chain Deficiency 5886 C0022521 Kartagener Syndrome 5887 C1855663 Kaufman oculocerebrofacial syndrome SMDE04392 244450 C1855663 5888 C0948368 Kaufman-McKusick syndrome 5889 C0220687 KBG syndrome SMDE05154 148050 C0220687 5890 C0022541 Kearns-Sayre syndrome SMDE04482 Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. D007625 530000 480 H49.8 C0022541 5891 C0022548 Keloid 5892 C0265291 Kenny-Caffey syndrome 5893 C1855648 KENNY-CAFFEY SYNDROME, TYPE 1 SMDE00519 244460 C1855648 5894 C4316787 Kenny-Caffey syndrome, type 2 SMDE00071 127000 C0265291 5895 C3279800 KEPPEN-LUBINSKY SYNDROME SMDE02931 614098 435628 E88.1 C3279800 5896 C0022568 Keratitis dis_2563 5897 C1835697 Keratitis Fugax Hereditaria 5898 C1835698 Keratitis, hereditary SMDE02209 148190 C1835698 5899 C3665333 Keratitis-Ichthyosis-Deafness Syndrome 5900 C0022578 Keratoconus 5901 C1835677 Keratoconus 1 SMDE01262 148300 C1835677 5902 C1835671 Keratoderma palmoplantar spastic paralysis 5903 C1275100 Keratoderma with deafness 5904 C0406767 Keratoderma with scleroatrophy of the extremities 5905 C4551675 Keratoderma, Palmoplantar 5906 C0022584 Keratoderma, Palmoplantar, Diffuse 5907 C1721006 Keratoderma, Palmoplantar, Epidermolytic 5908 C1855644 Keratoderma, Palmoplantar, Norrbotten Recessive Type 5909 C0406756 Keratolytic winter erythema 5910 C0086501 Keratoma 5911 C0152455 Keratomalacia 5912 C0022593 Keratosis 5913 C0022594 Keratosis Blennorrhagica 5914 C0022595 Keratosis Follicularis 5915 C3887525 Keratosis Follicularis Spinulosa Decalvans, X-Linked SMDE04776 308800 C3887525 5916 C1866029 Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma SMDE00661 601952 C1866029 5917 C2936837 Keratosis of Greither 5918 C1835662 Keratosis palmoplantaris papulosa 5919 C2931122 Keratosis palmoplantaris striata 1 5920 C2931123 Keratosis palmoplantaris striata 3 5921 C1852127 KERATOSIS PALMOPLANTARIS STRIATA II SMDE00875 612908 C1852127 5922 C0343057 Keratosis pilaris decalvans 5923 C0022610 Kernicterus dis_2564 5924 C1855607 Keutel syndrome SMDE03472 Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. C536167 245150 85202 Q87.8 C1855607 5925 C0206180 Ki-1+ Anaplastic Large Cell Lymphoma dis_2569 5926 C0022650 Kidney Calculi 5927 C0022658 Kidney Diseases dis_2572 5928 C0035078 Kidney Failure 5929 C0022660 Kidney Failure, Acute 5930 C0022661 Kidney Failure, Chronic 5931 C0022665 Kidney Neoplasm dis_2573 5932 C0022682 Kienbock Disease 5933 C1840365 King Denborough syndrome 5934 C1856719 Kininogen Deficiency, Total 5935 C1096154 Kinsbourne Syndrome 5936 C0795833 KLEEFSTRA SYNDROME 1 5937 C4540395 KLEEFSTRA SYNDROME 2 5938 C0206085 Kleine-Levin Syndrome 5939 C0079661 Klein's Syndrome 5940 C4706574 KLHL9-related early-onset distal myopathy 5941 C1859209 Klippel Feil syndrome recessive type 5942 C1832823 Klippel-Feil anomaly 5943 C0022738 Klippel-Feil Syndrome 5944 C3150967 KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT SMDE04512 613702 C3150967 5945 C4225285 KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM SMDE01606 616549 C4225285 5946 C1861689 KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT 5947 C0022739 Klippel-Trenaunay-Weber Syndrome 5948 C0265279 Kniest dysplasia SMDE03679 Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). C537207 156550 485 Q77.7 C0265279 5949 C1849409 Knobloch syndrome SMDE04884 Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele. C537209 267750 1571 Q15.8 C1849409 5950 C4551775 Knobloch Syndrome, Type I 5951 C0266004 Knuckle pads, leuconychia and sensorineural deafness 5952 C0406740 Kohlschutter Tonz syndrome 5953 C4225270 Kosaki overgrowth syndrome SMDE01935 616592 C4225270 5954 C1849779 Kowarski syndrome SMDE01141 262650 C1849779 5955 C2673266 KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY SMDE02488 611722 C2673266 5956 C0796012 Krause-Kivlin syndrome 5957 C1847640 KUFOR-RAKEB SYNDROME SMDE03702 606693 C1847640 5958 C0022802 Kuru 5959 C1859709 Kuskokwim disease 5960 C0022821 Kyphosis deformity of spine 5961 C4231118 Kyphosis/scoliosis (in some patients) 5962 C0023453 L2 Acute Lymphoblastic Leukemia 5963 C3888081 L-2-hydroxyglutaric acidemia dis_2582 5964 C1855995 L-2-HYDROXYGLUTARIC ACIDURIA dis_2583 SMDE04183 5965 C0022904 Lacrimal Apparatus Diseases 5966 C1835612 LACRIMAL DUCT DEFECT SMDE02198 149700 C1281931|C1835612|C1867060 5967 C0022906 Lacrimal Duct Obstruction 5968 C1867060 Lacrimal Puncta, Absence of 5969 C0265269 Lacrimoauriculodentodigital syndrome SMDE01153 149730 C0265269 5970 C0268179 Lactase Deficiency, Congenital SMDE03457 223000 C0268179 5971 C3279904 Lactate Dehydrogenase B Deficiency 5972 C2931743 Lactate dehydrogenase deficiency type A 5973 C3492932 Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency 5974 C1855552 Lactic Aciduria due to D-Lactic Acid 5975 C0268181 Lactose Intolerance, Adult Type SMDE02451 223100 C0268181|C1857231 5976 C0751784 Lafora Body Disease, Late Onset 5977 C0751783 Lafora Disease 5978 C0022972 Lambert-Eaton Myasthenic Syndrome 5979 C4225202 LAMB-SHAFFER SYNDROME SMDE03033 616803 C4225202 5980 C1832550 Lamellar ichthyosis, type 2 5981 C0282512 Landau-Kleffner Syndrome 5982 C0432230 Langer Mesomelic Dysplasia Syndrome 5983 C0023003 Langer-Giedion Syndrome SMDE00535 Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. D015826|C536555 150230 502 Q87.8 C2931237|C0023003 5984 C0023012 Language Delay 5985 C4310678 LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 5986 C0023014 Language Development Disorders 5987 C0023015 Language Disorders 5988 C0345958 Large cell carcinoma of lung 5989 C4231121 Large, squared nose tip 5990 C0271568 Laron Syndrome SMDE03623 Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. D046150 262500 633 E34.3 C0271568 5991 C1855548 Laron syndrome type 2 5992 C0175778 Larsen syndrome SMDE03660 150250 C0175778 5993 C2931648 Larsen syndrome, dominant type 5994 C2931649 Larsen syndrome, recessive type 5995 C0023055 Laryngeal neoplasm 5996 C0280324 Laryngeal Squamous Cell Carcinoma 5997 C1328355 Laryngoonychocutaneous syndrome SMDE03511 245660 C1328355 5998 C0023092 Lassa Fever 5999 C0277828 Late fontanel closure 6000 C0751718 Late Infantile Neuroaxonal Dystrophy 6001 C0342467 Late onset congenital adrenal hyperplasia 6002 C0239174 Late tooth eruption 6003 C0022340 Late-Infantile Neuronal Ceroid Lipfuscinosis 6004 C0268252 Late-Onset Globoid Cell Leukodystrophy 6005 C4304724 Late-onset junctional epidermolysis bullosa SMDE03851 Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood. 79406 Q81.8 6006 C1854065 LATE-ONSET RETINAL DEGENERATION (disorder) 6007 C0043019 Lateral Medullary Syndrome 6008 C0344487 Lateral meningocele 6009 C1851710 LATERAL MENINGOCELE SYNDROME SMDE03836 130720 C1851710 6010 C0154682 Lateral Sclerosis 6011 C1846421 Lathosterolosis SMDE05055 Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. C537880 607330 46059 Q87.8 C1846421 6012 C1690006 Lattice corneal dystrophy Type I 6013 C1628319 Lattice corneal dystrophy Type II 6014 C0023138 Laurence-Moon Syndrome SMDE03280 Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. D007849 245800 2377 Q87.8 C0023138 6015 C1851100 LAURIN-SANDROW SYNDROME SMDE01628 Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. C535689 135750 2378 Q87.2 C1851101|C1851100 6016 C1851101 Laurin-Sandrow Syndrome, Segmental 6017 C0023176 Lead Poisoning 6018 C0751859 Lead Poisoning, Nervous System 6019 C2748608 LEAD POISONING, SUSCEPTIBILITY TO 6020 C0751265 Learning Disabilities 6021 C0023186 Learning Disorders dis_2609 6022 C0751263 Learning Disturbance 6023 C0339527 Leber Congenital Amaurosis SMDE04751 Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. D057130 604537|614186|61271|608553|615360|613826|613341 65 6024 C1857821 LEBER CONGENITAL AMAUROSIS 10 (disorder) 6025 C1840284 LEBER CONGENITAL AMAUROSIS 11 SMDE00858 613837 C1840284 6026 C1857743 LEBER CONGENITAL AMAUROSIS 12 (disorder) 6027 C2675186 LEBER CONGENITAL AMAUROSIS 13 SMDE04057 612712 C3150208|C2675186 6028 C2750063 Leber Congenital Amaurosis 14 SMDE02056 613341 C2750065|C2750064|C2750063 6029 C3151206 LEBER CONGENITAL AMAUROSIS 15 SMDE00272 613843 C1838603|C3151206 6030 C3280062 LEBER CONGENITAL AMAUROSIS 16 SMDE05185 614186 C3280062 6031 C3715164 LEBER CONGENITAL AMAUROSIS 17 SMDE01776 615360 C3715164 6032 C1858677 LEBER CONGENITAL AMAUROSIS 3 (disorder) 6033 C1858386 Leber Congenital Amaurosis 4 SMDE02750 604393 C2751763|C1858386|C2751764 6034 C1858301 LEBER CONGENITAL AMAUROSIS 5 SMDE04595 604537 C1858301 6035 C1854260 LEBER CONGENITAL AMAUROSIS 6 (disorder) 6036 C3151192 LEBER CONGENITAL AMAUROSIS 7 SMDE00543 613829 C3151192 6037 C3151202 LEBER CONGENITAL AMAUROSIS 8 SMDE02913 613835 C3151202 6038 C1837873 LEBER CONGENITAL AMAUROSIS 9 (disorder) 6039 C4693498 LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS 6040 C1859844 LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) 6041 C1839040 LEBER OPTIC ATROPHY AND DYSTONIA 6042 C4304725 Leber plus disease 6043 C0023195 Lecithin Acyltransferase Deficiency 6044 C3178807 Left Atrial Isomerism 6045 C0751846 Left Middle Cerebral Artery Infarction 6046 C0600520 Left Ventricle Remodeling 6047 C0149721 Left Ventricular Hypertrophy dis_2611 6048 C1960469 Left ventricular noncompaction 6049 C3715165 LEFT VENTRICULAR NONCOMPACTION 10 SMDE04782 615396 C3715165|C3809346 6050 C3150682 LEFT VENTRICULAR NONCOMPACTION 4 6051 C3150690 LEFT VENTRICULAR NONCOMPACTION 5 6052 C3554496 LEFT VENTRICULAR NONCOMPACTION 7 SMDE01154 615092 C3554496 6053 C3809288 LEFT VENTRICULAR NONCOMPACTION 8 SMDE01192 615373 C3809289|C3809288 6054 C4021133 Left ventricular noncompaction cardiomyopathy dis_2612 6055 C0344917 Left ventricular outflow tract obstruction 6056 C0023212 Left-Sided Heart Failure 6057 C0023234 Legg-Calve-Perthes Disease 6058 C0023241 Legionnaires' Disease 6059 C0023264 Leigh Disease 6060 C1857355 Leigh syndrome , French Canadian type 6061 C1838951 LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 6062 C1850597 Leigh Syndrome Due To Mitochondrial Complex II Deficiency 6063 C1850598 Leigh Syndrome due to Mitochondrial Complex III Deficiency 6064 C1850599 Leigh Syndrome due to Mitochondrial Complex IV Deficiency 6065 C1850600 Leigh Syndrome due to Mitochondrial Complex V Deficiency 6066 C0086533 Leiomyoma, Epithelioid 6067 C1839884 Leiomyomatosis, esophageal and vulval, with nephropathy 6068 C0023269 leiomyosarcoma 6069 C0205815 Leiomyosarcoma, Epithelioid 6070 C0205816 Leiomyosarcoma, Myxoid 6071 C0023281 Leishmaniasis 6072 C0023283 Leishmaniasis, Cutaneous dis_2615 6073 C0086540 Leishmaniasis, New World 6074 C0023290 Leishmaniasis, Visceral dis_2616 6075 C0238111 Lennox-Gastaut syndrome SMDE01815 Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. C535500 615369|616346|617113 2382 G40.4 C0238111 6076 C0023308 Lens Diseases 6077 C1510497 Lens Opacities 6078 C0750951 Lenticulostriate Disorders 6079 C3492944 Lentiginosis Profusa 6080 C0432269 Lenz Majewski hyperostotic dwarfism 6081 C0175704 LEOPARD Syndrome 6082 C4551484 Leopard Syndrome 1 SMDE04165 151100 C0175704 6083 C1969056 LEOPARD SYNDROME 2 SMDE04462 611554 C1969056 6084 C3150971 LEOPARD SYNDROME 3 SMDE03270 613707 C3150971 6085 C0023343 Leprosy 6086 C1843632 LEPROSY, SUSCEPTIBILITY TO, 2 6087 C3554224 LEPTIN DEFICIENCY OR DYSFUNCTION SMDE02358 614962 C3554224 6088 C3554225 LEPTIN RECEPTOR DEFICIENCY SMDE00137 614963 C3554225 6089 C0265309 Leri-Weill dyschondrosteosis 6090 C0023374 Lesch-Nyhan Syndrome SMDE00522 DIS00456 Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. D007926 300322|308950 510 E79.1 C0023374|C1845892 6091 C0154748 Lesion of Sciatic Nerve 6092 C1389273 Lesions in the basal ganglia 6093 C2678471 Lethal Arthrogryposis With Anterior Horn Cell Disease SMDE04328 611890 C2678471 6094 C1969655 LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 6095 C1854664 LETHAL CONGENITAL CONTRACTURE SYNDROME 1 SMDE03544 253310 C1854664 6096 C4310760 LETHAL CONGENITAL CONTRACTURE SYNDROME 10 6097 C4310670 LETHAL CONGENITAL CONTRACTURE SYNDROME 11 6098 C1843478 Lethal Congenital Contracture Syndrome 2 SMDE03565 607598 C1843478 6099 C3554046 LETHAL CONGENITAL CONTRACTURE SYNDROME 4 SMDE00115 614915 C3554046 6100 C3809272 LETHAL CONGENITAL CONTRACTURE SYNDROME 5 SMDE01775 615368 C3809272 6101 C4015686 LETHAL CONGENITAL CONTRACTURE SYNDROME 6 SMDE04622 616248 C4015686 6102 C4225386 LETHAL CONGENITAL CONTRACTURE SYNDROME 7 SMDE01240 616286 C4225386 6103 C4225385 LETHAL CONGENITAL CONTRACTURE SYNDROME 8 SMDE01319 616287 C4225385 6104 C4225303 LETHAL CONGENITAL CONTRACTURE SYNDROME 9 SMDE00050 616503 C4225303 6105 C0406585 Lethal tight skin contracture syndrome (disorder) 6106 C0023380 Lethargy dis_2618 6107 C0023418 leukemia 6108 C1522378 Leukemia, Large Granular Lymphocytic 6109 C0023461 Leukemia, Mast-Cell 6110 C1860789 Leukemia, Megakaryoblastic, of Down Syndrome 6111 C0023466 Leukemia, Monocytic, Chronic 6112 C0023467 Leukemia, Myelocytic, Acute 6113 C0023472 Leukemia, Myeloid, Accelerated Phase 6114 C1292772 Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative 6115 C0023480 Leukemia, Myelomonocytic, Chronic 6116 C1955860 Leukemia, Natural Killer Cell Large Granular Lymphocytic 6117 C0023492 Leukemia, T-Cell 6118 C0023494 Leukemia, T-Cell, Chronic 6119 C0398738 Leukocyte adhesion deficiency type 1 6120 C2748536 Leukocyte Adhesion Deficiency, Type III SMDE01589 612840 C2748536 6121 C0023510 Leukocyte Disorders 6122 C4280711 Leukocyte inclusion bodies dis_2620 6123 C0242597 Leukocyte-Adhesion Deficiency Syndrome 6124 C0023518 Leukocytosis dis_2621 6125 C4225213 LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA SMDE04527 616763 C4225213 6126 C1868512 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant SMDE00570 169500 C1868512 6127 C3496228 Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia 6128 C3502054 Leukodystrophy, Dysmyelinating, with Oligodontia 6129 C2677112 Leukodystrophy, hypomyelinating 6130 C4225332 LEUKODYSTROPHY, HYPOMYELINATING, 10 SMDE01048 616420 C4225332 6131 C4225305 LEUKODYSTROPHY, HYPOMYELINATING, 11 SMDE00130 616494 C4225305 6132 C4225247 LEUKODYSTROPHY, HYPOMYELINATING, 12 SMDE01498 616683 C4225247 6133 C4225170 LEUKODYSTROPHY, HYPOMYELINATING, 13 6134 C4693535 LEUKODYSTROPHY, HYPOMYELINATING, 14 6135 C4693733 LEUKODYSTROPHY, HYPOMYELINATING, 15 6136 C4693779 LEUKODYSTROPHY, HYPOMYELINATING, 16 6137 C4693912 LEUKODYSTROPHY, HYPOMYELINATING, 17 6138 C1837355 Leukodystrophy, Hypomyelinating, 2 SMDE00250 608804 C1837355 6139 C2677109 Leukodystrophy, Hypomyelinating, 4 SMDE02833 612233 C2677109 6140 C2676244 Leukodystrophy, Hypomyelinating, 6 6141 C3280644 LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM SMDE00572 614381 C3280644 6142 C4015323 LEUKODYSTROPHY, HYPOMYELINATING, 9 SMDE00302 616140 C4015323 6143 C2676243 Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 6144 C0023522 Leukodystrophy, Metachromatic 6145 C4540358 LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET 6146 C0270612 Leukoencephalopathy dis_2624 6147 C3810242 LEUKOENCEPHALOPATHY WITH ATAXIA SMDE04511 615651 C3810242 6148 C1970180 Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation SMDE01920 611105 C1970180 6149 C3150990 LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY SMDE00166 613724 C3150990 6150 C1970840 Leukoencephalopathy With Metaphyseal Chondrodysplasia 6151 C4554120 Leukoencephalopathy with mild cerebellar ataxia and white matter edema 6152 C3281200 LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS SMDE04767 614561 C3281200 6153 C2751843 Leukoencephalopathy, Cystic, Without Megalencephaly SMDE03590 Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. 612951 C2751843 6154 C4014588 LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE SMDE04148 615889 C4014588 6155 C1704317 Leukokeratosis 6156 C1721005 Leukokeratosis, Hereditary Mucosal 6157 C0023530 Leukopenia dis_2626 6158 C0023531 Leukoplakia 6159 C0023532 Leukoplakia, Oral 6160 C0282548 Leukostasis 6161 C3279662 Leukotriene C4 Synthase Deficiency SMDE03861 614037 C3279662 6162 C0752347 Lewy Body Disease 6163 C0266432 Leydig cell agenesis 6164 C0860158 Leydig Cell Hypoplasia 6165 C2673497 Leydig Cell Hypoplasia, Type II 6166 C0023601 Leydig Cell Tumor 6167 C3810090 L-FERRITIN DEFICIENCY SMDE02155 615604 C3810090 6168 C0391826 Lhermitte-Duclos disease SMDE04612 Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. 158350 65285 Q04.8 C0391826|C1266181 6169 C0242380 Libman-Sacks Disease 6170 C0023645 Lichen planus follicularis 6171 C0162848 Lichenoid Eruptions 6172 C4225383 LICHTENSTEIN-KNORR SYNDROME SMDE02286 616291 C4225383 6173 C0221043 Liddle Syndrome SMDE00808 Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. D056929 177200 526 I15.1 C0221043 6174 C4748292 LIDDLE SYNDROME 3 6175 C0085390 Li-Fraumeni Syndrome SMDE01989 Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term). D016864 151623|609266|609265 524 D48.9 C0085390 6176 C1836482 Li-Fraumeni Syndrome 2 SMDE02377 609265 C1836482 6177 C1847827 LIG4 Syndrome SMDE01122 LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). 606593 99812 D81.1 C1847827 6178 C1274789 Ligneous conjunctivitis SMDE02967 Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term). 217090 97231 H10.4 C1274789 6179 C0206762 Limb Deformities, Congenital 6180 C1869123 Limb-girdle muscular dystrophy type 2A 6181 C1832525 Limb-girdle muscular dystrophy type 2F 6182 C0270968 Limb-girdle muscular dystrophy type 2H 6183 C1836765 LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) 6184 C1858593 Limb-girdle muscular dystrophy, type 2E 6185 C4706583 Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies 6186 C1863753 LIMB-MAMMARY SYNDROME SMDE02071 603543 C1863753 6187 C0752291 Limit-Setting Sleep Disorder 6188 C0263409 Linear Scleroderma 6189 C3550921 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 SMDE01904 300887 C3550921 6190 C4225421 LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 SMDE00191 300952 C4225421 6191 C3179502 Linear Verrucous Epidermal Nevus 6192 C0152115 Lingual-Facial-Buccal Dyskinesia 6193 C0023743 Linitis Plastica 6194 C0341059 Lip pit 6195 C1855498 Lipase deficiency combined 6196 C0154251 Lipid Metabolism Disorders 6197 C0023772 Lipid Metabolism, Inborn Errors dis_2661 6198 C4310822 LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY SMDE03545 255100 C4310822 6199 C1706412 Lipidemias 6200 C0011859 Lipoatrophic Diabetes Mellitus 6201 C1260965 Lipoblastoma 6202 C0334475 Lipoblastomatosis 6203 C0023787 Lipodystrophy dis_2662 DIS00462 6204 C2675861 Lipodystrophy, Congenital Generalized, Type 3 SMDE01058 612526 C2675861 6205 C2750069 Lipodystrophy, Congenital Generalized, Type 4 SMDE03369 613327 C2750069 6206 C3151268 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 SMDE01562 613877 C3151268 6207 C3808940 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 SMDE04881 615238 C3808940 6208 C4014869 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 SMDE00820 615980 C4014869 6209 C3887501 LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO 6210 C0342474 Lipoid congenital adrenal hyperplasia SMDE02846 201710 C0342474 6211 C0027721 Lipoid nephrosis 6212 C0023795 Lipoid Proteinosis of Urbach and Wiethe SMDE00304 247100 C0023795 6213 C0023794 Lipoidosis dis_2665 6214 C0023798 Lipoma dis_2666 6215 C4017330 LIPOMA, SOMATIC 6216 C0023801 Lipomatosis 6217 C3489413 Lipomatosis, Multiple 6218 C0023804 Lipomatosis, Multiple Symmetrical 6219 C0023806 Lipomucopolysaccharidosis 6220 C2673196 LIPOPROTEIN GLOMERULOPATHY SMDE01818 611771 C2673196 6221 C0023827 liposarcoma 6222 C0205824 Liposarcoma, Dedifferentiated 6223 C0206634 Liposarcoma, Myxoid dis_2669 6224 C0205825 Liposarcoma, Pleomorphic 6225 C1370889 Liposarcoma, well differentiated 6226 C4225379 LIPOYLTRANSFERASE 1 DEFICIENCY SMDE05116 616299 C4225379 6227 C0266463 Lissencephaly 6228 C1969029 Lissencephaly 3 SMDE00674 611603 C1969029 6229 C3151461 LISSENCEPHALY 4 SMDE03948 614019 C3151461 6230 C3554657 LISSENCEPHALY 5 SMDE00133 615191 C3554657 6231 C4015525 LISSENCEPHALY 6 WITH MICROCEPHALY SMDE05166 616212 C4015525 6232 C4225359 LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA SMDE00962 616342 C4225359 6233 C4310646 LISSENCEPHALY 8 6234 C0796089 LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE 6235 C4551968 Lissencephaly, X-Linked, 1 SMDE04254 300067 C1848199|C1848070|C1848200|C1848201 6236 C1846171 Lissencephaly, X-Linked, 2 SMDE00495 300215 C1846171|C1846172 6237 C0023860 Listeriosis 6238 C0023869 Lithiasis 6239 C0023882 Little's Disease 6240 C2239176 Liver carcinoma 6241 C0023890 Liver Cirrhosis dis_2673 DIS00464 6242 C0023891 Liver Cirrhosis, Alcoholic 6243 C0023893 Liver Cirrhosis, Experimental 6244 C0023895 Liver diseases dis_2675 6245 C0023897 Liver Diseases, Parasitic 6246 C0086565 Liver Dysfunction 6247 C0085605 Liver Failure dis_2676 6248 C0162557 Liver Failure, Acute 6249 C3278664 LIVER FAILURE, INFANTILE, TRANSIENT SMDE00780 613070 C3278664 6250 C0023903 Liver neoplasms dis_2679 6251 C0023904 Liver Neoplasms, Experimental 6252 C4750858 LMNA-related cardiocutaneous progeria syndrome SMDE01071 363618 E34.8 6253 C0431362 Lobar Holoprosencephaly 6254 C0032300 Lobar Pneumonia 6255 C0023931 Lobstein Disease 6256 C1334410 Localized Primitive Neuroectodermal Tumor 6257 C0036420 Localized scleroderma 6258 C0023944 Locked-In Syndrome 6259 C0343495 Lockjaw 6260 C0206143 Loeffler's Endocarditis 6261 C1836635 Loeys-Dietz Aortic Aneurysm Syndrome 6262 C2697932 Loeys-Dietz Syndrome SMDE03191 Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. 610168|609192 60030 Q87.4 C2697932|C1836635 6263 C3151087 LOEYS-DIETZ SYNDROME 3 SMDE01222 613795 C3151087 6264 C3553762 LOEYS-DIETZ SYNDROME 4 SMDE04019 614816 C3553762 6265 C4551955 Loeys-Dietz Syndrome, Type 1a 6266 C3711645 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 6267 C0220711 Long chain acyl-CoA dehydrogenase deficiency 6268 C1849340 Long palpebral fissure 6269 C1865014 Long philtrum 6270 C0023976 Long QT Syndrome 6271 C4551647 Long QT Syndrome 1 SMDE00764 192500 C3277700|C1843738|C0035828 6272 C2678484 Long Qt Syndrome 10 SMDE01299 611819 C4013560|C2678484 6273 C2678483 Long Qt Syndrome 11 SMDE00510 611820 C2678483 6274 C2751830 Long Qt Syndrome 12 SMDE01823 612955 C2751830 6275 C3150733 LONG QT SYNDROME 13 SMDE03744 613485 C3150733 6276 C4015671 LONG QT SYNDROME 14 SMDE04416 616247 C4015671 6277 C4015695 LONG QT SYNDROME 15 SMDE00253 616249 C4015695 6278 C3150943 Long Qt Syndrome 2 SMDE01502 613688 C3888153|C3277700|C3150943|C3279092|C3276240|C3279093 6279 C1859062 LONG QT SYNDROME 3 SMDE04368 603830 C3276241|C3276240|C1859062|C1838527 6280 C1867904 LONG QT SYNDROME 5 SMDE00158 613695 C1867904|C3279092|C3150956 6281 C3150953 Long Qt Syndrome 6 SMDE02653 613693 C3276241|C3150953|C3150954 6282 C2678485 LONG QT SYNDROME 9 (disorder) 6283 C2931401 Long QT syndrome type 3 6284 C0751508 Long Sleeper Syndrome 6285 C0265581 Longitudinal deficiency of radius 6286 C0406468 Loose Anagen Hair Syndrome 6287 C4479491 LOPES-MACIEL-RODAN SYNDROME 6288 C0345218 Low anorectal malformation 6289 C0024031 Low Back Pain dis_2705 6290 C0423682 Low Back Pain, Mechanical 6291 C0423689 Low Back Pain, Posterior Compartment 6292 C0577660 Low Back Pain, Postural 6293 C0007166 Low Cardiac Output 6294 C0600177 Low Cardiac Output Syndrome 6295 C0079747 Low Grade Lymphoma (neoplasm) 6296 C1839874 Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 6297 C2609268 Low phospholipid-associated cholelithiasis 6298 C0152136 Low Tension Glaucoma 6299 C0431943 Lower Extremity Deformities, Congenital 6300 C0751410 Lower Extremity Paresis 6301 C1271100 Lower limb spasticity dis_2720 6302 C0796021 Lowry Wood syndrome 6303 C1846058 Lubs X-linked mental retardation syndrome SMDE03401 300260 C1846058 6304 C0270210 Lucey-Driscoll syndrome (disorder) 6305 C0949496 Luft Disease 6306 C0796022 Lujan Fryns syndrome 6307 C0221775 Lumbar disc disease 6308 C0431415 Lumbosacral agenesis 6309 C4310653 LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME 6310 C0024115 Lung diseases 6311 C0206062 Lung Diseases, Interstitial 6312 C0600260 Lung Diseases, Obstructive 6313 C0273115 Lung Injury dis_2731 DIS00472 6314 C0024121 Lung Neoplasms dis_2733 DIS00473 6315 C0409974 Lupus Erythematosus dis_2735 6316 C0024138 Lupus Erythematosus, Discoid 6317 C0024141 Lupus Erythematosus, Systemic 6318 C0752334 Lupus Meningoencephalitis 6319 C0024143 Lupus Nephritis dis_2736 6320 C0752332 Lupus Vasculitis, Central Nervous System 6321 C0024131 Lupus Vulgaris 6322 C4085873 LUSCAN-LUMISH SYNDROME SMDE02704 616831 C4085873 6323 C3668935 Luteinizing Hormone Resistance, Female 6324 C0497156 Lymphadenopathy dis_2740 6325 C0751674 Lymphangioleiomyomatosis SMDE01690 Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipommas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC). D018192 606690 538 D48.7 C0751674 6326 C0206620 Lymphangioma, Cystic 6327 C0398368 Lymphatic Abnormalities 6328 C4747646 LYMPHATIC MALFORMATION 3 6329 C4747769 LYMPHATIC MALFORMATION 4 6330 C4225184 LYMPHATIC MALFORMATION 6 6331 C4310629 LYMPHATIC MALFORMATION 7 6332 C0024232 Lymphatic Metastasis dis_2745 6333 C0024236 Lymphedema dis_2746 6334 C0265345 Lymphedema distichiasis syndrome 6335 C1835265 Lymphedema, microcephaly and chorioretinopathy syndrome 6336 C2675066 Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus 6337 C1266194 Lymphocyte Rich Classical Hodgkin Lymphoma 6338 C0024291 Lymphohistiocytosis, Hemophagocytic 6339 C0023448 Lymphoid leukemia 6340 C0024299 Lymphoma dis_2751 DIS00476 6341 C0085090 Lymphoma, AIDS-Related 6342 C3714542 Lymphoma, Diffuse 6343 C1955906 Lymphoma, Extranodal NK-T-Cell 6344 C0024301 Lymphoma, Follicular DIS00478 6345 C1956130 Lymphoma, Follicular, Grade 1 6346 C1956132 Lymphoma, Follicular, Grade 2 6347 C1956131 Lymphoma, Follicular, Grade 3 6348 C0079741 Lymphoma, Intermediate-Grade 6349 C0079745 Lymphoma, Large-Cell, Follicular 6350 C0751958 Lymphoma, Lymphocytic, Intermediate 6351 C0024304 Lymphoma, Mixed-Cell 6352 C0079758 Lymphoma, Mixed-Cell, Follicular 6353 C0024305 Lymphoma, Non-Hodgkin dis_2753 DIS00481 6354 C4721532 Lymphoma, Non-Hodgkin, Familial SMDE04010 605027 C0024305 6355 C0079765 Lymphoma, Small Cleaved-Cell, Follicular 6356 C0079770 Lymphoma, Small Noncleaved-Cell 6357 C0079773 Lymphoma, T-Cell, Cutaneous 6358 C0024306 Lymphoma, Undifferentiated 6359 C0206182 Lymphomatoid Papulosis 6360 C0024312 Lymphopenia dis_2754 6361 C0024314 Lymphoproliferative Disorders 6362 C3552634 LYMPHOPROLIFERATIVE SYNDROME 1 SMDE04867 613011 C3552634 6363 C3554540 LYMPHOPROLIFERATIVE SYNDROME 2 SMDE02054 615122 C3554540 6364 C4748863 LYMPHOPROLIFERATIVE SYNDROME 3 6365 C2751686 Lymphoproliferative Syndrome, Ebv-Associated, Autosomal, 1 6366 C1845076 Lymphoproliferative Syndrome, X-Linked, 2 SMDE00660 300635 C1845076 6367 C4552100 Lynch Syndrome SMDE00273 D003123 614331|613244|120435|614350|609310 144 D48.9 C1333990 6368 C2931459 Lynch syndrome I (site-specific colonic cancer) 6369 C0936256 Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 6370 C0268647 Lysinuric Protein Intolerance SMDE02281 222700 C0268647 6371 C2931893 Lysosomal beta-mannosidase deficiency 6372 C0024408 Machado-Joseph Disease SMDE02830 109150 C0024408 6373 C0751668 Machado-Joseph Disease Type I 6374 C0751669 Machado-Joseph Disease Type II 6375 C0751670 Machado-Joseph Disease Type III 6376 C0751671 Machado-Joseph Disease Type IV 6377 C0221355 Macrocephaly 6378 C3807541 MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY 6379 C1846722 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 6380 C4748993 MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 6381 C2751321 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 6382 C4310766 MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 6383 C3280095 MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME SMDE03627 614192 C3280095 6384 C1854416 MACROCEPHALY/AUTISM SYNDROME SMDE01423 605309 C1854416 6385 C3806412 MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE 6386 C1838656 Macrocytosis, Familial 6387 C1835192 MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 SMDE01856 153600 C1835192|C3549870 6388 C1263023 Macroorchidism 6389 C1096155 Macrophage Activation Syndrome 6390 C1865286 MACROPHTHALMIA, COLOBOMATOUS, WITH MICROCORNEA 6391 C0344453 Macroprolactinoma 6392 C0233771 Macropsia 6393 C0024433 Macrostomia 6394 C2751260 Macrothrombocytopenia dis_2761 6395 C1834478 MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS SMDE03495 600208 C1834478 6396 C2751259 Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related SMDE02108 613112 C2751259 6397 C2749759 Macrothrombocytopenia-Stomatocytosis, Mediterranean 6398 C0024439 Macular corneal dystrophy 6399 C1864205 Macular Degeneration, Age-Related, 1 6400 C3151079 MACULAR DEGENERATION, AGE-RELATED, 12 6401 C3809523 MACULAR DEGENERATION, AGE-RELATED, 13 6402 C3809653 MACULAR DEGENERATION, AGE-RELATED, 14 6403 C3810042 MACULAR DEGENERATION, AGE-RELATED, 15 6404 C3495438 Macular Degeneration, Age-Related, 2 6405 C1837187 MACULAR DEGENERATION, AGE-RELATED, 3 6406 C1853147 MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) 6407 C3151063 MACULAR DEGENERATION, AGE-RELATED, 5 6408 C3151060 Macular Degeneration, Age-Related, 6 SMDE00596 613757 C3151060 6409 C1857813 Macular Degeneration, Age-Related, 7 6410 C3151070 MACULAR DEGENERATION, AGE-RELATED, 8 6411 C1969651 Macular Degeneration, Age-Related, 9 6412 C4015286 MACULAR DEGENERATION, EARLY-ONSET SMDE00103 616118 C4015286 6413 C3151784 MACULAR DEGENERATION, X-LINKED ATROPHIC SMDE01726 300834 C3151784 6414 C4015371 MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT SMDE04944 616170 C4015371 6415 C1837029 Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 6416 C1636149 Macular dystrophy, corneal type 1 6417 C4551999 MACULAR DYSTROPHY, PATTERNED, 1 SMDE04748 169150 C1868569 6418 C4310713 MACULAR DYSTROPHY, PATTERNED, 3 6419 C4015342 MACULAR DYSTROPHY, VITELLIFORM, 4 SMDE03233 616151 C4015342 6420 C4015343 MACULAR DYSTROPHY, VITELLIFORM, 5 SMDE04451 616152 C4015343 6421 C0024440 Macular Edema, Cystoid 6422 C0271051 Macular retinal edema 6423 C0751856 Mad Hatter Disease 6424 C0024454 Maffucci Syndrome SMDE00260 Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas. 614569 163634 Q78.4 C0024454 6425 C0024473 Magnesium Deficiency 6426 C1849437 Mainzer-Saldino Disease 6427 C1864997 Majeed syndrome SMDE00989 Majeed syndrome is a rare genetic multisystemic disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, which may be accompanied by neutrophilic dermatosis. C537839 609628 77297 C1864997 6428 C0024507 Majewski Syndrome 6429 C1839839 MAJOR AFFECTIVE DISORDER 2 6430 C2700438 MAJOR AFFECTIVE DISORDER 7 6431 C0024517 Major depression, single episode 6432 C1269683 Major Depressive Disorder dis_2775 DIS00488 6433 C0024523 Malabsorption Syndrome 6434 C3553660 Malan overgrowth syndrome 6435 C1858085 Malar flattening 6436 C0024530 Malaria dis_2780 SMDE05235 DIS00489 6437 C0024535 Malaria, Falciparum 6438 C1970028 MALARIA, SUSCEPTIBILITY TO (finding) 6439 C1852020 Malattia Leventinese 6440 C3496549 Male Germ Cell Tumor 6441 C0021364 Male infertility dis_2782 DIS00490 6442 C0403812 Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa 6443 C4706677 Male infertility with teratozoospermia due to single gene mutation SMDE02309 Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. 102530|613958|615413|243060 399808 N46 6444 C0238395 Male Pseudohermaphroditism 6445 C1839840 MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 6446 C0917731 Male sterility 6447 C2931163 Male sterility due to Y-chromosome deletions 6448 C1955869 Malformations of Cortical Development 6449 C1837249 Malformations of Cortical Development, Group II 6450 C0279530 Malignant Bone Neoplasm 6451 C0024586 Malignant Carcinoid Syndrome 6452 C0348374 Malignant Central Nervous System Neoplasm 6453 C0600066 Malignant Cystosarcoma Phyllodes 6454 C0555198 Malignant Glioma 6455 C0334401 Malignant Granulosa Cell Tumor 6456 C0278996 Malignant Head and Neck Neoplasm 6457 C0024591 Malignant hyperpyrexia due to anesthesia 6458 C0020540 Malignant Hypertension 6459 C2930980 Malignant hyperthermia susceptibility type 1 6460 C2930984 Malignant hyperthermia susceptibility type 5 6461 C1866077 MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 6462 C0555202 Malignant lymphoma - lymphocytic, intermediate differentiation 6463 C0334634 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 6464 C0346388 Malignant melanoma of choroid 6465 C0346373 Malignant melanoma of iris 6466 C0259785 Malignant Meningioma 6467 C0345967 Malignant mesothelioma dis_2796 DIS00496 6468 C0346402 Malignant neoplasm of adrenal cortex 6469 C0153633 Malignant neoplasm of brain 6470 C0006142 Malignant neoplasm of breast 6471 C0153437 Malignant neoplasm of cecum 6472 C0007103 Malignant neoplasm of endometrium 6473 C0546837 Malignant neoplasm of esophagus 6474 C0153452 Malignant neoplasm of gallbladder 6475 C0685938 Malignant neoplasm of gastrointestinal tract 6476 C0740457 Malignant neoplasm of kidney 6477 C0007107 Malignant neoplasm of larynx 6478 C0345904 Malignant neoplasm of liver 6479 C0242379 Malignant neoplasm of lung 6480 C0153381 Malignant neoplasm of mouth 6481 C0153392 Malignant neoplasm of nasopharynx 6482 C1140680 Malignant neoplasm of ovary 6483 C0346647 Malignant neoplasm of pancreas 6484 C0153601 Malignant neoplasm of penis 6485 C0153405 Malignant neoplasm of pharynx 6486 C0376358 Malignant neoplasm of prostate dis_2798 6487 C0220636 Malignant neoplasm of salivary gland 6488 C0007114 Malignant neoplasm of skin 6489 C0153470 Malignant neoplasm of spleen 6490 C0024623 Malignant neoplasm of stomach 6491 C0153594 Malignant neoplasm of testis 6492 C0751552 Malignant neoplasm of thymus 6493 C0007115 Malignant neoplasm of thyroid 6494 C0153349 Malignant neoplasm of tongue 6495 C0153619 Malignant neoplasm of ureter 6496 C0005684 Malignant neoplasm of urinary bladder 6497 C0006826 Malignant Neoplasms 6498 C0751690 Malignant Peripheral Nerve Sheath Tumor 6499 C1334615 Malignant Phyllodes Tumor of Prostate 6500 C2750405 Malignant Rhabdoid Tumor, Somatic 6501 C0751688 Malignant Squamous Cell Neoplasm 6502 C0007847 Malignant tumor of cervix 6503 C0007102 Malignant tumor of colon 6504 C0153504 Malignant tumor of mediastinum 6505 C0042237 Malignant Vaginal Neoplasm 6506 C0162429 Malnutrition dis_2801 6507 C0342793 Malonic aciduria 6508 C0796031 Malouf syndrome 6509 C0796032 Malpuech facial clefting syndrome 6510 C1257925 Mammary Carcinoma, Animal 6511 C4704874 Mammary Carcinoma, Human 6512 C0021367 Mammary Ductal Carcinoma 6513 C1458155 Mammary Neoplasms dis_2804 6514 C0024668 Mammary Neoplasms, Experimental 6515 C1257931 Mammary Neoplasms, Human 6516 C0024689 Mandibular Diseases 6517 C0024694 Mandibular Neoplasms 6518 C3494425 Mandibular Retroposition 6519 C3494426 Mandibular Retrusion 6520 C0432291 Mandibuloacral dysostosis 6521 C1837756 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY SMDE03153 C535706 608612 90154 Q87.5 C1837756 6522 C0242387 Mandibulofacial Dysostosis 6523 C4225349 MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA SMDE02606 616367 C4225349 6524 C1855433 Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 6525 C0677050 Manganese Poisoning 6526 C0338831 Manic 6527 C0024713 Manic Disorder dis_2808 DIS00499 6528 C0564408 Manic mood 6529 C0746402 manic symptom 6530 C3280586 Mannose-Binding Protein Deficiency 6531 C0024776 Maple Syrup Urine Disease SMDE03854 248600 C0268568|C2930990|C1855369|C0024776|C0268569|C0751285|C1621920|C1855371 6532 C3554575 MAPLE SYRUP URINE DISEASE, MILD VARIANT SMDE00223 615135 C3554575 6533 C0751285 Maple Syrup Urine Disease, Thiamine Responsive 6534 C2930990 Maple syrup urine disease, type 1B 6535 C1855369 Maple Syrup Urine Disease, Type IA 6536 C1855371 MAPLE SYRUP URINE DISEASE, TYPE II 6537 C0427169 Marche a Petit Pas 6538 C1833136 Marden Walker like syndrome 6539 C0796033 MARDEN-WALKER SYNDROME SMDE04228 248700 C0796033 6540 C4310796 MARFAN LIPODYSTROPHY SYNDROME SMDE05167 616914 C4310796 6541 C0024796 Marfan Syndrome SMDE00303 154700 C0024796 6542 C2931058 Marfan Syndrome type 2 6543 C4721845 Marfan Syndrome, Type I 6544 C0024799 Marginal ulcer 6545 C0270749 Marie Cerebellar Ataxia 6546 C2931059 Marie Unna congenital hypotrichosis 6547 C2750815 Marie Unna Hereditary Hypotrichosis 1 6548 C0024809 Marijuana Abuse dis_2809 6549 C0024814 Marinesco-Sjogren syndrome SMDE00792 248800 C0024814 6550 C1855425 Marles Greenberg Persaud syndrome 6551 C0265235 Marshall syndrome SMDE03828 Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skelet and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. C536025 154780 560 Q87.0 C0265235 6552 C0265211 Marshall-Smith syndrome SMDE02634 602535 C0265211 6553 C4538468 MARSILI SYNDROME 6554 C1832443 Martinez-Frias Syndrome 6555 C1845285 Martin-Probst Deafness-Mental Retardation Syndrome 6556 C0796037 Martsolf syndrome SMDE02574 212720 C0796037 6557 C0795953 MASA SYNDROME (disorder) 6558 C3151085 MASP2 Deficiency SMDE03536 613791 C3151085 6559 C0240302 Masseter Muscle Spasm 6560 C0001364 Massive Hepatic Necrosis 6561 C0234375 Massive Tremor 6562 C1855346 MAST SYNDROME SMDE01050 248900 C1855346 6563 C0024894 Mastitis 6564 C0024899 Mastocytosis 6565 C0221013 Mastocytosis, Systemic 6566 C2931092 Maternally Inherited Leigh Syndrome 6567 C0342276 Maturity onset diabetes mellitus in young 6568 C1852093 Maturity-Onset Diabetes of the Young, Type 1 SMDE01183 125850 C1852093 6569 C3150617 Maturity-onset diabetes of the young, type 10 SMDE00480 613370 C3150617 6570 C3150618 Maturity-onset diabetes of the young, type 11 SMDE00663 613375 C3150618 6571 C4225365 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 SMDE02998 616329 C4225365 6572 C4225299 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 6573 C1838100 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) 6574 C1853371 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6 (disorder) 6575 C1864839 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (disorder) 6576 C1853297 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION SMDE04788 609812 C1853297 6577 C2677132 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 (disorder) 6578 C1833382 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IV (disorder) 6579 C0024950 Maxillary Diseases 6580 C0024954 Maxillary Neoplasms 6581 C3494423 Maxillary Retroposition 6582 C3494424 Maxillary Retrusion 6583 C0524948 Maxillofacial Abnormalities 6584 C0340978 May-Hegglin anomaly SMDE00365 155100 C0340978 6585 C0751782 May-White Syndrome 6586 C0242292 McCune-Albright Syndrome dis_2818 SMDE01662 DIS00500 6587 C1837026 MEACHAM SYNDROME (disorder) 6588 C0025007 Measles SMDE05224 A highly contagious infectious disease caused by MORBILLIVIRUS, common among children but also seen in the nonimmune of any age, in which the virus enters the respiratory tract via droplet nuclei and multiplies in the epithelial cells, spreading throughout the MONONUCLEAR PHAGOCYTE SYSTEM. D008457 C0025007 6589 C2936719 Mechanical Allodynia 6590 C4015701 MECKEL SYNDROME 12 SMDE04380 616258 C4015701 6591 C4539714 MECKEL SYNDROME 13 6592 C3714506 Meckel syndrome type 1 6593 C1846357 Meckel syndrome type 3 6594 C3280036 MECKEL SYNDROME, TYPE 10 SMDE02454 614175 C3280036 6595 C3809352 MECKEL SYNDROME, TYPE 11 SMDE02802 615397 C3809352 6596 C1864148 MECKEL SYNDROME, TYPE 2 SMDE02893 603194 C1864148 6597 C1970161 MECKEL SYNDROME, TYPE 4 SMDE01211 611134 C1970162|C1970161 6598 C1969052 MECKEL SYNDROME, TYPE 5 SMDE00491 611561 C1969052 6599 C2676790 MECKEL SYNDROME, TYPE 6 (disorder) 6600 C3836857 MECKEL SYNDROME, TYPE 8 SMDE01824 613885 C3836857 6601 C3280155 MECKEL SYNDROME, TYPE 9 SMDE04140 614209 C3280155 6602 C0265215 Meckel-Gruber syndrome 6603 C2939175 Meconium ileus dis_2821 SMDE01836 6604 C1292754 Mediastinal (Thymic) Large B-Cell Lymphoma 6605 C0025063 Mediastinal Neoplasms 6606 C0220710 Medium-chain acyl-coenzyme A dehydrogenase deficiency 6607 C0206693 Medullary carcinoma 6608 C0238462 Medullary carcinoma of thyroid 6609 C1868139 Medullary cystic kidney disease 1 SMDE00374 174000 C1868139 6610 C1859040 Medullary Cystic Kidney Disease Type 2 6611 C0751887 Medullary Neoplasms 6612 C0025149 Medulloblastoma dis_2831 SMDE01512 DIS00504 6613 C1334970 Medulloblastoma with extensive nodularity 6614 C0334596 Medulloepithelioma 6615 C0205833 Medullomyoblastoma 6616 C4310811 MEESTER-LOEYS SYNDROME 6617 C0025160 Megacolon 6618 C0162668 Megaconial Myopathies 6619 C4748927 MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS 6620 C1608393 Megacystis microcolon intestinal hypoperistalsis syndrome 6621 C1835084 Megaduodenum and-or Megacystis 6622 C1855310 Megaepiphyseal dwarfism 6623 C0025164 Megaesophagus 6624 C4706584 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) 6625 C1863924 Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 6626 C1858854 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 6627 C3151355 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A SMDE03655 613925 C3151355 6628 C3151356 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION SMDE04068 613926 C3151356 6629 C1865285 Megalencephaly cutis marmorata telangiectatica congenita 6630 C3550024 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 6631 C4012727 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 SMDE00969 603387 C1863924|C4012727 6632 C4014738 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 SMDE04048 615937 C4014738 6633 C4014742 MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 SMDE04473 615938 C4014742 6634 C4551825 Megaloblastic Anemia 1 SMDE02403 261100 C1306856 6635 C3151205 Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency SMDE04339 613839 C3151205 6636 C1306856 Megaloblastic anemia due to inborn errors of metabolism 6637 C2931118 Megalocytic interstitial nephritis 6638 C2931121 Meier Blumberg Imahorn syndrome 6639 C4552001 MEIER-GORLIN SYNDROME 1 SMDE00316 224690 C1868684 6640 C3151097 MEIER-GORLIN SYNDROME 2 SMDE04647 613800 C3151097 6641 C3151113 MEIER-GORLIN SYNDROME 3 SMDE01937 613803 C3151113 6642 C3151120 MEIER-GORLIN SYNDROME 4 SMDE04856 613804 C3151120 6643 C3151126 MEIER-GORLIN SYNDROME 5 SMDE04265 613805 C3151126 6644 C4225188 MEIER-GORLIN SYNDROME 6 SMDE00470 616835 C4225188 6645 C4310738 MEIER-GORLIN SYNDROME 7 6646 C4479655 MEIER-GORLIN SYNDROME 8 6647 C0025193 Melancholia dis_2838 6648 C0027962 Melanocytic nevus 6649 C0025202 melanoma dis_2840 DIS00505 6650 C1835042 Melanoma astrocytoma syndrome 6651 C0206735 Melanoma, Amelanotic 6652 C0004565 Melanoma, B16 6653 C0009075 Melanoma, Cloudman S91 6654 C1835047 MELANOMA, CUTANEOUS MALIGNANT, 1 6655 C4014476 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 6656 C1835044 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 6657 C1836892 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 6658 C2751295 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 6659 C3151417 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 6660 C3152204 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 6661 C3554574 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 6662 C0025205 Melanoma, Experimental 6663 C0018598 Melanoma, Harding-Passey 6664 C1838547 MELANOMA-PANCREATIC CANCER SYNDROME SMDE05084 606719 C1838547 6665 C0025209 Melanosis 6666 C1835039 Melanosis, Universal 6667 C1275668 Melanotic medulloblastoma 6668 C0162671 MELAS Syndrome 6669 C0025221 Meleda Disease 6670 C0025229 Melioidosis 6671 C0025237 Melnick-Needles Syndrome SMDE02238 309350 C0025237 6672 C0025239 Melorheostosis 6673 C3149695 Melorheostosis with Osteopoikilosis SMDE00599 Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. 1879 M85.8 C2931505|C3149695 6674 C3149631 MELORHEOSTOSIS, ISOLATED SMDE02017 155950 C3149631 6675 C0268742 Membranoproliferative Glomerulonephritis, Type I 6676 C0268743 Membranoproliferative Glomerulonephritis, Type II 6677 C1720821 Membranoproliferative Glomerulonephritis, Type III 6678 C0017665 Membranous glomerulonephritis dis_2845 6679 C0751293 Memory Disorder, Semantic 6680 C0751294 Memory Disorder, Spatial 6681 C0025261 Memory Disorders dis_2847 6682 C0233794 Memory impairment dis_2848 6683 C0751295 Memory Loss 6684 C3810089 MEMORY QUANTITATIVE TRAIT LOCUS 6685 C4085243 MEND SYNDROME SMDE01750 300960 C4085243 6686 C0085740 Mendelson Syndrome 6687 C0025281 Meniere Disease 6688 C0025286 Meningioma dis_2849 DIS00508 6689 C3551915 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO SMDE00816 607174 C3551915 6690 C0205834 Meningiomas, Multiple 6691 C0025287 Meningism 6692 C0025289 Meningitis dis_2851 6693 C1135745 Meningitis, Meningococcal, Serogroup A 6694 C1135746 Meningitis, Meningococcal, Serogroup B 6695 C1135747 Meningitis, Meningococcal, Serogroup C 6696 C1136210 Meningitis, Meningococcal, Serogroup W-135 6697 C1136209 Meningitis, Meningococcal, Serogroup Y 6698 C0025303 Meningococcal Infections 6699 C0025294 Meningococcal meningitis 6700 C0025309 Meningoencephalitis 6701 C0025312 Meningomyelocele 6702 C0334605 Meningothelial meningioma 6703 C0022716 Menkes Kinky Hair Syndrome 6704 C0917816 Mental deficiency 6705 C0011570 Mental Depression dis_2857 6706 C0234985 Mental deterioration 6707 C0004936 Mental disorders 6708 C4046029 Mental Disorders, Severe 6709 C4225208 MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS SMDE01505 616789 C4225208 6710 C2677903 Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia SMDE02393 300749 C2677903 6711 C0796159 Mental retardation Smith Fineman Myers type 6712 C3150923 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 6713 C4013764 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES SMDE04119 613670 C4013764 6714 C1846130 Mental retardation X-linked, South African type 6715 C3150924 MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS SMDE02195 613671 C3150924 6716 C1969562 Mental Retardation, Autosomal Dominant 1 SMDE02162 156200 C1969562|C3277090 6717 C3280284 MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 SMDE02923 614256 C3280284 6718 C3280285 MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 SMDE02587 614257 C3280285 6719 C3281201 MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 SMDE01693 614562 6720 C3281202 MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 SMDE00762 614563 C3281202 6721 C3553247 MENTAL RETARDATION, AUTOSOMAL DOMINANT 14 6722 C3553248 MENTAL RETARDATION, AUTOSOMAL DOMINANT 15 6723 C3554343 MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 6724 C3554448 MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 SMDE03249 615074 C3554448 6725 C3554449 MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 SMDE04389 615075 C3554449 6726 C3150700 MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 SMDE01157 613443 C3150700|C4225434 6727 C3809686 MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 SMDE04443 615502 C3809686 6728 C3808184 MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 SMDE01704 612337 C2676727|C3808184 6729 C3810406 MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 SMDE04798 615761 C3810406 6730 C4014414 MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 SMDE00773 615828 C4014414 6731 C4014435 MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 SMDE04912 615834 C4014435 6732 C4014528 MENTAL RETARDATION, AUTOSOMAL DOMINANT 27 SMDE03235 615866 C4014528 6733 C4015141 MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 SMDE05082 616078 C4015141 6734 C2675488 Mental Retardation, Autosomal Dominant 3 SMDE05003 612580 C2675488 6735 C4015167 MENTAL RETARDATION, AUTOSOMAL DOMINANT 30 SMDE01841 616083 C4015167 6736 C4015357 MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 SMDE04958 616158 C4015357 6737 C4225396 MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 SMDE02743 616268 C4225396 6738 C4225375 MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 SMDE03821 616311 C4225375 6739 C4225156 MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 SMDE01563 616351 C4225156 6740 C4225354 MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 SMDE03531 616355 C4225354 6741 C4225352 MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 SMDE00312 616362 C4225352 6742 C4225343 MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 SMDE03968 616393 C4225343 6743 C4225296 MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 SMDE02470 616521 C4225432|C4225296|C4225433 6744 C2675487 Mental Retardation, Autosomal Dominant 4 SMDE01180 612581 C2675487 6745 C4225275 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 SMDE03908 616579 C4225275 6746 C4310784 MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 SMDE00193 616944 C4310784 6747 C4310774 MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 6748 C4310771 MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 6749 C4310740 MENTAL RETARDATION, AUTOSOMAL DOMINANT 44 6750 C4539848 MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 6751 C4539851 MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 6752 C4539951 MENTAL RETARDATION, AUTOSOMAL DOMINANT 47 6753 C4540321 MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 6754 C4540324 MENTAL RETARDATION, AUTOSOMAL DOMINANT 49 6755 C2675473 Mental Retardation, Autosomal Dominant 5 SMDE00307 612621 C2675473 6756 C4540470 MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 6757 C4540474 MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 6758 C4540478 MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 6759 C4540481 MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 6760 C4540484 MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 6761 C4693371 MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES 6762 C4693389 MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 6763 C4748003 MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 6764 C4748195 MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 6765 C3151411 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 SMDE05113 613970 C3151411 6766 C3279839 MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 SMDE02463 614104 C3279839 6767 C3280283 MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 SMDE01886 614255 C3280283 6768 C1855304 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 SMDE01728 249500 C1855304 6769 C1970200 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 6770 C2750791 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 SMDE05202 613192 C2750791 6771 C3151462 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14 SMDE03845 614020 C3151462 6772 C3280127 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 SMDE01468 614202 C3280127 6773 C3280153 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17 6774 C3280265 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 SMDE00615 614249 C3280265 6775 C1843942 Mental Retardation, Autosomal Recessive 2 SMDE00542 607417 C1843942 6776 C3280538 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 SMDE01751 614340 C3280538 6777 C1838023 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 SMDE04064 608443 C1838023 6778 C3281044 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY SMDE02719 614499 C3281044 6779 C3809039 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36 SMDE03703 615286 C3809039 6780 C3809672 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 SMDE01302 615493 C3809672 6781 C3809753 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 SMDE00198 615516 C3809753 6782 C3809853 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 SMDE01090 615541 C3809853 6783 C3810080 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 SMDE01357 615599 C3810080 6784 C3810225 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 SMDE03279 615637 C3810225 6785 C4014343 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 SMDE02695 615802 C4014343 6786 C4014386 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 SMDE03595 615817 C4014386 6787 C4014745 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 SMDE02117 615942 C4014745 6788 C4014864 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 SMDE04660 615979 C4014864 6789 C4015283 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 SMDE03112 616116 C4015283 6790 C4015444 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 SMDE02473 616193 C4015444 6791 C4225395 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 SMDE00894 616269 C4225395 6792 C4225388 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49 SMDE03494 616281 C4225388 6793 C1970199 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 SMDE04415 611091 C1970199 6794 C4225319 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 SMDE00516 616460 C4225319 6795 C4225220 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 SMDE02591 616739 C4225220 6796 C4225168 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 SMDE02573 616887 C4225168 6797 C4310794 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53 SMDE04378 616917 C4310794 6798 C4310755 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 6799 C4310745 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55 6800 C4310703 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 6801 C4310673 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 6802 C4310641 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 SMDE01997 617270 C4310641 6803 C4310619 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 6804 C1970198 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 SMDE00526 611092 C1970198 6805 C4479476 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60 6806 C4748167 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 6807 C4748192 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 6808 C4748219 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 6809 C4748732 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 6810 C1970197 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 SMDE01810 611093 C1970197 6811 C1846278 MENTAL RETARDATION, EPILEPTIC SEIZURES, HYPOGONADISM AND HYPOGENITALISM, MICROCEPHALY, AND OBESITY (disorder) 6812 C1969893 Mental Retardation, Fra12a Type SMDE03272 136630 C1969893 6813 C0025363 Mental Retardation, Psychosocial 6814 C1853507 Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 6815 C1136249 Mental Retardation, X-Linked 6816 C2931498 Mental Retardation, X-Linked 1 SMDE03507 309530 C2931498|C0796224|C1845181 6817 C3890167 MENTAL RETARDATION, X-LINKED 100 SMDE02737 300923 C3890167 6818 C3890168 MENTAL RETARDATION, X-LINKED 101 SMDE03629 300928 C3890168 6819 C4085582 MENTAL RETARDATION, X-LINKED 102 SMDE02168 300958 C4085582 6820 C4310818 MENTAL RETARDATION, X-LINKED 103 6821 C4310817 MENTAL RETARDATION, X-LINKED 104 6822 C4310816 MENTAL RETARDATION, X-LINKED 105 6823 C4478379 MENTAL RETARDATION, X-LINKED 106 6824 C4692652 MENTAL RETARDATION, X-LINKED 107 6825 C0796218 MENTAL RETARDATION, X-LINKED 12 SMDE04412 300957 C0796218|C0796242 6826 C0796221 MENTAL RETARDATION, X-LINKED 15 6827 C0796225 Mental Retardation, X-Linked 19 SMDE03042 300844 C0796225 6828 C0796208 MENTAL RETARDATION, X-LINKED 3 6829 C0796237 Mental Retardation, X-Linked 30 SMDE01031 300558 C0796237|C0796249 6830 C0796238 MENTAL RETARDATION, X-LINKED 31 6831 C0796241 MENTAL RETARDATION, X-LINKED 34 (disorder) 6832 C0796242 MENTAL RETARDATION, X-LINKED 35 6833 C3887939 MENTAL RETARDATION, X-LINKED 41 SMDE04824 300849 C3887939 6834 C1845333 Mental Retardation, X-Linked 45 SMDE01542 300498 C1845333 6835 C1845526 Mental Retardation, X-Linked 46 SMDE01114 300436 C1845526 6836 C1846174 Mental Retardation, X-Linked 58 SMDE00809 300210 C1846174 6837 C4283894 MENTAL RETARDATION, X-LINKED 61 6838 C1845672 Mental Retardation, X-Linked 63 SMDE01945 300387 C1845672 6839 C1846038 MENTAL RETARDATION, X-LINKED 72 6840 C1845181 MENTAL RETARDATION, X-LINKED 78 6841 C3275444 MENTAL RETARDATION, X-LINKED 88 (disorder) 6842 C1839082 MENTAL RETARDATION, X-LINKED 89 6843 C0796215 Mental Retardation, X-Linked 9 SMDE03010 309549 C0796215 6844 C3275443 MENTAL RETARDATION, X-LINKED 90 (disorder) 6845 C1845142 MENTAL RETARDATION, X-LINKED 91 (disorder) 6846 C1845144 Mental Retardation, X-Linked 92 6847 C1970841 MENTAL RETARDATION, X-LINKED 93 (disorder) 6848 C2678051 MENTAL RETARDATION, X-LINKED 94 (disorder) 6849 C2678034 MENTAL RETARDATION, X-LINKED 95 6850 C3275408 MENTAL RETARDATION, X-LINKED 96 SMDE00479 300802 C3275408 6851 C3806730 MENTAL RETARDATION, X-LINKED 98 SMDE00414 300912 C3806730 6852 C3806746 MENTAL RETARDATION, X-LINKED 99 SMDE03225 300919 C3806746 6853 C4225416 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED SMDE01170 300968 C4225416 6854 C3501611 Mental Retardation, X-Linked Nonsyndromic 6855 C0796160 MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE 6856 C1846145 MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 SMDE04459 300238 C1846145 6857 C1968550 Mental Retardation, X-Linked, Syndromic 13 SMDE04998 300055 C1968550|C1968552|C0796222|C1968551|C1848211 6858 C1970822 Mental Retardation, X-Linked, Syndromic 14 SMDE03888 300676 C1970822 6859 C3550913 MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 SMDE00472 300886 C3550913 6860 C4225418 MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 SMDE04570 300966 C4225418 6861 C4225417 MENTAL RETARDATION, X-LINKED, SYNDROMIC 34 SMDE00450 300967 C4225417 6862 C4478383 MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35 6863 C4310814 MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE 6864 C2678194 Mental Retardation, X-Linked, Syndromic, Christianson Type SMDE02023 300243 C2678194 6865 C1845243 MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE SMDE00102 300534 C1845243 6866 C4538788 MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE 6867 C3275464 MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE SMDE00647 300860 C3275464 6868 C3275406 MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE SMDE05048 300799 C3275406 6869 C2678046 Mental Retardation, X-Linked, Syndromic, Turner Type SMDE00187 300706 C2678046 6870 C1845366 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance SMDE00657 300486 C1845366 6871 C1845543 Mental Retardation, X-Linked, with Epilepsy 6872 C1848068 Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency 6873 C0796244 MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 6874 C2678223 Mental Retardation, X-Linked, With Panhypopituitarism SMDE02906 300123 C2678223|C1848068 6875 C1845845 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder) 6876 C1845861 MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 6877 C2749020 Mental Retardation, X-Linked, Znf711-Related 6878 C0751857 Mercurial Neuroanesthenia 6879 C0751855 Mercury Encephalopathy 6880 C0025427 Mercury Poisoning 6881 C0546127 Mercury Poisoning, Nervous System 6882 C0274860 Mercury Poisoning, Organic 6883 C0751858 Mercury Psychosis 6884 C1622345 Meretoja syndrome 6885 C0007129 Merkel cell carcinoma 6886 C0162672 MERRF Syndrome 6887 C0751888 Mesencephalic Neoplasms 6888 C0206637 Mesenchymal Chondrosarcoma 6889 C1412000 Mesenteric vascular insufficiency 6890 C0025472 Mesenteric Vascular Occlusion 6891 C0267412 Mesenteric Venous Thrombosis 6892 C0549306 Mesomelia 6893 C1838162 Mesomelia-synostoses syndrome 6894 C3714739 Mesothelial Neoplasms 6895 C0025500 Mesothelioma dis_2859 DIS00509 6896 C0220981 Metabolic acidosis 6897 C0005944 Metabolic Bone Disorder 6898 C0025517 Metabolic Diseases 6899 C0751743 Metabolic Disorder, Central Nervous System, Acquired 6900 C4225171 METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION SMDE03859 616878 C4225171 6901 C0270984 Metabolic myopathy 6902 C0524620 Metabolic Syndrome X dis_2865 DIS00512 6903 C1839728 METACARPAL 4-5 FUSION 6904 C0410530 Metachondromatosis SMDE04139 156250 C0410530 6905 C0268262 Metachromatic Leukodystrophy due to Saposin B Deficiency SMDE01054 249900 C0268262 6906 C0751279 Metachromatic Leukodystrophy, Adult-Type (disorder) 6907 C0751278 Metachromatic Leukodystrophy, Infant 6908 C0751276 Metachromatic leukodystrophy, juvenile type 6909 C0271185 Metamorphopsia 6910 C0432226 Metaphyseal anadysplasia SMDE02598 Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. C537351 602111|613073 1040 Q78.5 C0432226 6911 C2751322 Metaphyseal Anadysplasia 2 SMDE03144 613073 C2751322 6912 C0265289 Metaphyseal chondrodysplasia Schmid type 6913 C0432225 Metaphyseal chondrodysplasia Spahr type 6914 C1855188 Metaphyseal Chondrodysplasia with Retinitis Pigmentosa SMDE04734 250410 C1855188 6915 C1834969 Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly 6916 C3549874 METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY SMDE04924 156510 C3549874 6917 C1834821 METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS SMDE00055 250460 C1834821 6918 C3553958 METAPHYSEAL ENCHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA 6919 C0025568 Metaplasia 6920 C3665732 Metastatic Dermatofibrosarcoma Protuberans 6921 C0278883 Metastatic melanoma dis_2875 6922 C0265281 Metatropic dwarfism 6923 C3711162 Metatropic Dysplasia Type 1 6924 C0025637 Methemoglobinemia dis_2881 6925 C4285231 METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA 6926 C2673427 METHEMOGLOBINEMIA TYPE IV SMDE02532 250790 C2673427 6927 C2749559 Methemoglobinemia, Type I 6928 C2749560 Methemoglobinemia, Type Ii 6929 C1855128 Methylcobalamin Deficiency, CblG Type 6930 C1856061 Methylenetetrahydrofolate reductase deficiency 6931 C3279840 Methylmalonate Semialdehyde Dehydrogenase Deficiency SMDE00530 614105 C3279840 6932 C0268583 Methylmalonic acidemia dis_2882 6933 C1848561 Methylmalonic acidemia with homocystinuria 6934 C1855119 Methylmalonic aciduria dis_2883 6935 C4693974 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC 6936 C1848552 Methylmalonic Aciduria and Homocystinuria, CblD Type SMDE02664 277410 C1848554|C1848553|C1848552 6937 C1848578 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder) 6938 C3553915 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE SMDE00368 614857 C3553915 6939 C1855109 Methylmalonic aciduria cblA type 6940 C1855102 Methylmalonic aciduria cblB type 6941 C1855114 Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency SMDE00435 251000 C1855114|C1855115|C1855116 6942 C4749905 Methylmalonic aciduria due to transcobalamin receptor defect 6943 C1848554 Methylmalonic Aciduria, CblD Type, Variant 2 6944 C1855116 Methylmalonic Aciduria, mut(-) Type 6945 C1855115 Methylmalonic Aciduria, mut(0) Type 6946 C3150900 METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT SMDE00118 613646 C3150900 6947 C1855100 Methylmalonyl-CoA Epimerase Deficiency SMDE00194 251120 C1855101|C1855100 6948 C1860819 Metopic synostosis 6949 C1959626 Mevalonic Aciduria SMDE03328 Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. D054078 610377 29 E88.8 C1959626|C0342731 6950 C0473586 Michelin tire baby syndrome 6951 C0221021 Microangiopathic hemolytic anemia dis_2887 6952 C0025945 Microangiopathy, Diabetic 6953 C0521174 Microcalcification 6954 C4319565 Microcephalic osteodysplastic primordial dwarfism types I and III 6955 C3502214 Microcephalic Osteodysplastic Primordial Dwarfism with Tooth Abnormalities 6956 C1859452 MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I SMDE00048 210710 C1859452 6957 C0432246 Microcephalic Osteodysplastic Primordial Dwarfism, Type II SMDE00168 210720 C0432246 6958 C3554439 Microcephalic primordial dwarfism Alazami type 6959 C0025958 Microcephaly 6960 C4229700 Microcephaly (-3 to -9 SD) 6961 C3554499 MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE SMDE03313 615095 C3554499 6962 C3809431 MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE SMDE04841 615414 C3809431 6963 C4015156 MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE SMDE00533 616080 C4015156 6964 C4015080 MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE SMDE04808 616051 C4015080 6965 C4225338 MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE SMDE04116 616402 C4225338 6966 C4225310 MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE SMDE02850 616486 C4225310 6967 C4225249 MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE SMDE04988 616681 C4225249 6968 C4310723 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE 6969 C4479608 MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT 6970 C4540488 MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE 6971 C4693572 MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE 6972 C4693831 MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE 6973 C4693834 MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE 6974 C4693843 MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE 6975 C1858516 MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE SMDE00635 604321 C1858516 6976 C3553414 MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE SMDE01335 614673 C3553414 6977 C3553886 MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE SMDE01891 614852 C3553886 6978 C3278481 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 SMDE05046 251270 C3278481 6979 C4015388 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 SMDE02425 616171 C4015388 6980 C4225362 MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 SMDE03261 616335 C4225362 6981 C0220693 Microcephaly autosomal dominant 6982 C3553735 Microcephaly in adulthood 6983 C3501946 Microcephaly with Chorioretinopathy, Autosomal Dominant 6984 C3502492 Microcephaly with Chorioretinopathy, Autosomal Recessive 6985 C1846648 MICROCEPHALY, AMISH TYPE (disorder) 6986 C4748984 MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM 6987 C4225189 MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS SMDE03563 616834 C4225189 6988 C3280240 MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME SMDE01749 614231 C3280240 6989 C4748348 MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME 6990 C4748176 MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 6991 C3150921 MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY SMDE02254 613668 C3150921 6992 C1855081 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 6993 C3501830 Microcephaly, Primary Autosomal Recessive, 2 6994 C1858535 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 2 (disorder) 6995 C1858108 Microcephaly, Primary Autosomal Recessive, 3 6996 C1837501 Microcephaly, Primary Autosomal Recessive, 5 6997 C1842109 Microcephaly, Primary Autosomal Recessive, 6 6998 C2675187 MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder) 6999 C4014239 MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY SMDE04636 615760 C4014239 7000 C3150667 MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY SMDE01868 613402 C3150667 7001 C4538630 MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS 7002 C4014997 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 SMDE01773 616033 C4014997 7003 C4225195 MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 SMDE01956 616817 C4225195 7004 C4539873 MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 7005 C3553831 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES SMDE02063 614833 C3553831 7006 C4225499 MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES 7007 C3280296 Microcephaly-capillary malformation syndrome SMDE02467 614261 C3280296 7008 C0796063 microcephaly-digital anomalies syndrome 7009 C1855079 Microcephaly-Micromelia Syndrome 7010 C0266544 Microcornea dis_2889 7011 C3809567 MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS SMDE04941 615458 C3809567 7012 C2674009 Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 7013 C1384408 Microcystic meningioma 7014 C0271901 Microcytic hypochromic anemia (disorder) 7015 C0025990 Micrognathism 7016 C1857977 MICROHYDRANENCEPHALY SMDE01401 605013 C1857977 7017 C1956147 Microlissencephaly 7018 C2936816 Micromelic dysplasia, congenital, with dislocation of radius 7019 C1449861 Micronuclei, Chromosome-Defective 7020 C1449862 Micronuclei, Genotoxicant-Induced 7021 C3279369 Microphthalmia (in some patients) 7022 C2931501 Microphthalmia associated with colobomatous cyst 7023 C1855052 MICROPHTHALMIA, ISOLATED 1 7024 C1864720 MICROPHTHALMIA, ISOLATED 2 SMDE02992 610093 C1864720 7025 C1970237 Microphthalmia, Isolated 3 SMDE04854 611038 C1970237 7026 C2751307 MICROPHTHALMIA, ISOLATED 4 (disorder) 7027 C3150757 MICROPHTHALMIA, ISOLATED 6 SMDE01687 613517 C3150757 7028 C3150969 MICROPHTHALMIA, ISOLATED 7 SMDE02745 613704 C3150969 7029 C3554524 MICROPHTHALMIA, ISOLATED 8 SMDE00354 615113 C3554524 7030 C1859311 Microphthalmia, Isolated, with Cataract 2 7031 C4225330 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 SMDE01569 616428 C4225330 7032 C1864721 Microphthalmia, Isolated, with Coloboma 3 SMDE04974 610092 C1864721|C1864722 7033 C1968843 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder) 7034 C3150968 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 SMDE02924 613703 C3150968 7035 C3281027 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 SMDE02376 614497 C3281027 7036 C3554592 MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 SMDE04352 615145 C3554592 7037 C1970236 Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 7038 C0796016 Microphthalmia, syndromic 1 SMDE02256 309800 C0796016 7039 C3553077 MICROPHTHALMIA, SYNDROMIC 11 SMDE04553 614402 C3553077 7040 C3809803 MICROPHTHALMIA, SYNDROMIC 12 SMDE00046 615524 C3809803 7041 C3806742 MICROPHTHALMIA, SYNDROMIC 13 SMDE04369 300915 C3806742 7042 C1846265 Microphthalmia, syndromic 2 SMDE00229 300166 C1846265 7043 C1859773 Microphthalmia, Syndromic 3 SMDE01105 206900 C1859773|C1859774 7044 C1864690 Microphthalmia, Syndromic 5 SMDE00034 610125 C1864690|C4225436 7045 C1864689 MICROPHTHALMIA, SYNDROMIC 6 (disorder) 7046 C0796070 MICROPHTHALMIA, SYNDROMIC 7 7047 C1832440 MICROPHTHALMIA, SYNDROMIC 8 7048 C4014540 MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 7049 C0026010 Microphthalmos 7050 C4551977 Microphthalmos, Autosomal Recessive 7051 C0344452 Microprolactinoma 7052 C0233769 Micropsia 7053 C0920269 Microsatellite Instability 7054 C1562061 Microspherophakia 7055 C3538951 MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA SMDE00930 251750 C3538951 7056 C2676772 Microtia, Hearing Impairment, And Cleft Palate SMDE02509 612290 C2676772|C3808166 7057 C0206064 Microvascular Angina 7058 C2676832 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1(finding) 7059 C2675471 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding) 7060 C2675470 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (finding) 7061 C2675112 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4 (finding) 7062 C2674665 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5 (finding) 7063 C2675128 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6 (finding) 7064 C2673520 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding) 7065 C0341306 Microvillus inclusion disease 7066 C0751845 Middle Cerebral Artery Embolus 7067 C0740391 Middle Cerebral Artery Occlusion 7068 C0238281 Middle Cerebral Artery Syndrome 7069 C0740376 Middle Cerebral Artery Thrombosis 7070 C4310810 MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 7071 C0149931 Migraine Disorders 7072 C3887485 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 7073 C3150908 MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 7074 C1865322 MIGRAINE, FAMILIAL HEMIPLEGIC, 2 SMDE03970 602481 C1865323|C1865322 7075 C1864987 Migraine, Familial Hemiplegic, 3 SMDE02721 609634 C1864987 7076 C3494976 Migrating partial seizures in infancy 7077 C1270972 Mild cognitive disorder 7078 C0588006 Mild depression 7079 C2751481 Mild radial hypoplasia 7080 C1856453 Mild thrombocytopenia 7081 C1839735 MILES-CARPENTER X-LINKED MENTAL RETARDATION SYNDROME 7082 C0026141 Milk-Alkali Syndrome 7083 C0265219 Miller Dieker syndrome 7084 C1848862 Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 7085 C1704423 Milroy Disease 7086 C0086626 Minamata Disease 7087 C0342488 Mineralocorticoid Excess Syndrome, Apparent 7088 C1850674 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 7089 C1321905 Minimal Brain Dysfunction 7090 C0026205 Miosis disorder 7091 C4284088 MIRAGE SYNDROME 7092 C1834870 MIRROR MOVEMENTS 1 SMDE00165 157600 C1834870 7093 C3281089 MIRROR MOVEMENTS 2 SMDE00752 614508 C3281089 7094 C4015124 MIRROR MOVEMENTS 3 SMDE01763 616059 C4015124 7095 C4748869 MIRROR MOVEMENTS 4 7096 C0454455 Mirror movements disorder 7097 C4552766 Miscarriage 7098 C4518356 MiT family translocation renal cell carcinoma 7099 C2748662 Mitchell-Riley Syndrome SMDE01623 615710 C2748662 7100 C3532239 Mitochondrial cardiomyopathy 7101 C1838979 MITOCHONDRIAL COMPLEX I DEFICIENCY SMDE01398 252010 C2936907|C1838979 7102 C4746992 MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 7103 C4748768 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 7104 C4748769 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 7105 C4746984 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 7106 C4748770 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 7107 C4748777 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 7108 C4748778 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 7109 C4748785 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 7110 C4748786 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 7111 C4748790 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 7112 C4748791 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 7113 C4748737 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 7114 C4747517 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 7115 C4748792 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 7116 C4748796 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 7117 C4748799 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 7118 C4748803 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 7119 C4748806 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 7120 C4748809 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 7121 C4748826 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 7122 C4748827 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 7123 C4748830 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 7124 C4748752 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 7125 C4746985 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 7126 C4748838 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 7127 C4748839 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 7128 C4748840 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 7129 C4748753 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 7130 C4748754 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 7131 C4748759 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 7132 C4748760 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 7133 C4748766 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 7134 C4748767 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 7135 C1855008 Mitochondrial Complex II Deficiency SMDE04442 252011 C1855008 7136 C1852372 MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 7137 C3541471 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 SMDE00538 124000 C3541471 7138 C3554605 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 SMDE04049 615157 C3554605 7139 C3554606 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 SMDE04608 615158 C3554606 7140 C3554607 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 SMDE03893 615159 C3554607 7141 C3554608 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 SMDE04141 615160 C3554608 7142 C3809553 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 SMDE02300 615453 C3809553 7143 C4014408 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 SMDE04306 615824 C4014408 7144 C4014440 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 SMDE04590 615838 C4014440 7145 C4015253 MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 SMDE01104 616111 C4015253 7146 C3275684 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 7147 C3276276 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 SMDE03382 604273 C3276276|C2700431 7148 C3279708 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 SMDE04859 614053 C3279708 7149 C3808899 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 SMDE00899 615228 C3808899 7150 C4748269 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 7151 C0751651 Mitochondrial Diseases DIS00519 7152 C4551995 Mitochondrial DNA Depletion Syndrome 1 7153 C3554462 MITOCHONDRIAL DNA DEPLETION SYNDROME 11 SMDE03076 615084 C3554462 7154 C4321247 Mitochondrial DNA Depletion Syndrome 12 7155 C4310676 MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT 7156 C3809443 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE SMDE04285 615418 C3809443 7157 C4225163 MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) SMDE04865 616896 C4225163 7158 C4310690 MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) 7159 C3149750 MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) SMDE02940 609560 C3149750 7160 C4310935 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 7161 C3151513 MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) SMDE00160 251880 C3151513 7162 C3150914 MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) SMDE02218 613662 C3150914 7163 C2749864 MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) SMDE04878 612073 C2749864 7164 C2749861 MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) SMDE04348 612075 C3150172|C2749862|C2749861 7165 C3150172 MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) 7166 C3151476 MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) SMDE02353 245400 C3151476 7167 C3501891 Mitochondrial DNA Depletion Syndrome, Myopathic Form 7168 C0162666 Mitochondrial Encephalomyopathies 7169 C0162670 Mitochondrial Myopathies 7170 C1838103 MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA SMDE02838 Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. C536101 600462|500011|613561 2598 G71.3 C1838103 7171 C1839028 Mitochondrial Myopathy with Diabetes 7172 C1855033 Mitochondrial myopathy with lactic acidosis SMDE03640 251950 C1855033 7173 C3151898 MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 7174 C1838876 MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE SMDE01708 551000 C1838876 7175 C0872218 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 7176 C1835845 Mitochondrial Phosphate Carrier Deficiency SMDE04277 610773 C1835845 7177 C3553607 MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY SMDE03852 614741 C3553607 7178 C0949857 Mitochondrial Respiratory Chain Deficiencies 7179 C4225391 MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY SMDE04134 616277 C4225391 7180 C0026266 Mitral Valve Insufficiency 7181 C0026267 Mitral Valve Prolapse Syndrome 7182 C1843003 MITRAL VALVE PROLAPSE, MYXOMATOUS 2 7183 C0338908 Mixed anxiety and depressive disorder 7184 C0152266 Mixed Cellularity Hodgkin Lymphoma 7185 C0259783 mixed gliomas 7186 C0547065 Mixed oligoastrocytoma 7187 C0280793 Mixed Oligodendroglioma-Astrocytoma 7188 C0751395 Mixed Oligodendroglioma-Ependymoma 7189 C2826025 Mixed phenotype acute leukemia 7190 C2931505 Mixed sclerosing bone dystrophy 7191 C0206627 Mixed Tumor, Mullerian 7192 C4551973 Miyoshi Muscular Dystrophy 1 SMDE04485 254130 C1850808 7193 C2750076 Miyoshi Muscular Dystrophy 3 SMDE04363 613319 C2750076 7194 C1850808 Miyoshi myopathy 7195 C0853240 Mobius II syndrome 7196 C0221060 Mobius Syndrome 7197 C0337677 Moderate drinker 7198 C0026363 Mohr Syndrome 7199 C0796074 MOHR-TRANEBJAERG SYNDROME SMDE02699 304700 C1839564|C0796074 7200 C1854988 Molybdenum Cofactor Deficiency, Complementation Group A SMDE02449 252150 C1854988|C0268119 7201 C1854989 Molybdenum Cofactor Deficiency, Complementation Group B SMDE00294 252160 C1854989 7202 C1854990 Molybdenum Cofactor Deficiency, Complementation Group C SMDE00520 615501 C1854990 7203 C0395941 Mondini defect 7204 C0546966 Monilethrix SMDE05125 Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. D056734 158000 573 Q84.1 C0546966 7205 C4015186 MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY SMDE00931 616095 C4015186 7206 C0751043 Monochromatopsia 7207 C3888631 Monogenic diabetes 7208 C3150596 MONONEUROPATHY OF THE MEDIAN NERVE, MILD SMDE02089 613353 C3150596 7209 C0270795 Monoparesis 7210 C0085622 Monoplegia 7211 C0270807 Monoplegic Cerebral Palsy 7212 C0154698 Monoplegic Infantile Cerebral Palsy 7213 C2931860 Monosomy 5p SMDE02219 Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. C538482|D003410 123450 281 Q93.4 C2931860|C0010314 7214 C0525045 Mood Disorders dis_2935 7215 C2678248 Mood instability 7216 C0085633 Mood swings dis_2936 7217 C3810324 MORBID OBESITY AND SPERMATOGENIC FAILURE SMDE00742 615703 C3810324 7218 C0406537 Morbilliform Drug Reaction 7219 C1857802 MORM syndrome 7220 C0549307 Morning glory syndrome SMDE04331 Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies. 120430 35737 Q14.2 C0549307 7221 C1527383 Morphea 7222 C0600272 Morphine Abuse 7223 C0026552 Morphine Dependence 7224 C4021765 Morphological abnormality of the central nervous system 7225 C4733331 mosaic variegated aneuploidy 7226 C1850343 Mosaic variegated aneuploidy syndrome 1 SMDE02170 257300 C1850343 7227 C3279843 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 SMDE03343 614114 C3279843 7228 C4539839 MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 7229 C1854301 Motor delay 7230 C0221163 Motor Disorders 7231 C0085084 Motor Neuron Disease 7232 C0270764 Motor Neuron Disease, Lower 7233 C0543858 Motor Neuron Disease, Secondary 7234 C0521659 Motor Neuron Disease, Upper 7235 C0424230 Motor retardation 7236 C0026613 Motor Skills Disorders 7237 C0751554 Motor Tic Disorders 7238 C0026633 Mouth Abnormalities 7239 C0026636 Mouth Diseases 7240 C0026640 Mouth Neoplasms 7241 C0026650 Movement Disorders 7242 C1856113 Mowat-Wilson syndrome SMDE00439 235730 C1856113 7243 C4016144 MOYAMOYA 6 WITH ACHALASIA 7244 C0026654 Moyamoya Disease SMDE02657 Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. D009072|C536991 608796|607151|614042|252350 2573 I67.5 C2931384|C0026654 7245 C2931384 Moyamoya disease 1 7246 C1846689 MOYAMOYA DISEASE 2 7247 C1837418 MOYAMOYA DISEASE 3 7248 C3151857 MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM 7249 C3279690 MOYAMOYA DISEASE 5 SMDE01257 614042 C3279690 7250 C3810403 MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA 7251 C0086648 MPS III B 7252 C0086649 MPS III C 7253 C0086650 MPS III D 7254 C0270730 MPTP Poisoning 7255 C0751864 MPTP-Induced Degeneration of the Striatum 7256 C4755299 MT-ATP6-related mitochondrial spastic paraplegia 7257 C1856059 Mthfr Deficiency, Thermolabile Type 7258 C0007130 Mucinous Adenocarcinoma 7259 C1334807 Mucinous carcinoma of breast 7260 C0268390 Muckle-Wells Syndrome SMDE02778 Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). 191900 575 E85.0 C0268390 7261 C1328252 Mucocutaneous leishmaniasis 7262 C0026691 Mucocutaneous Lymph Node Syndrome 7263 C0206694 Mucoepidermoid Carcinoma 7264 C0026697 Mucolipidoses 7265 C2931894 Mucolipidosis 2 7266 C2673377 MUCOLIPIDOSIS II ALPHA/BETA (disorder) 7267 C2673375 Mucolipidosis III Alpha Beta, Atypical 7268 C1854896 Mucolipidosis III Gamma SMDE02711 252605 C1854896 7269 C0238286 Mucolipidosis Type IV SMDE04209 Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. 252650 578 E75.1 C0238286 7270 C0023786 Mucopolysaccharidosis I 7271 C0026705 Mucopolysaccharidosis II 7272 C0026706 Mucopolysaccharidosis III 7273 C0026707 Mucopolysaccharidosis IV 7274 C0086647 Mucopolysaccharidosis Type IIIA 7275 C0086652 Mucopolysaccharidosis type IVB 7276 C0026708 Mucopolysaccharidosis V 7277 C0026709 Mucopolysaccharidosis VI 7278 C0085132 Mucopolysaccharidosis VII 7279 C0086651 Mucopolysaccharidosis, MPS-IV-A 7280 C4310627 MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME 7281 C0242647 Mucosa-Associated Lymphoid Tissue Lymphoma 7282 C3898222 mucosal melanoma 7283 C1864436 Muenke Syndrome SMDE05087 Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. C537369 602849 53271 Q87.0 C1864436 7284 C0524582 Mulibrey Nanism SMDE00999 MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations. C538604|D050336 253250 2576 Q87.1 C0524582|C2931895 7285 C2675014 Mullerian Aplasia and Hyperandrogenism 7286 C1840451 MULTICYSTIC RENAL DYSPLASIA, BILATERAL 7287 C0521756 Multidirectional Nystagmus 7288 C4509881 Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus 7289 C1861753 Multiminicore Disease, Moderate, with Hand Involvement 7290 C0268596 Multiple Acyl Coenzyme A Dehydrogenase Deficiency 7291 C0242992 Multiple Chemical Sensitivity 7292 C0000772 Multiple congenital anomalies 7293 C3279775 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 SMDE04105 614080 C3279775 7294 C3275508 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 SMDE02307 300868 C3275508 7295 C3809356 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 SMDE00801 615398 C3809356 7296 C0027662 Multiple Endocrine Neoplasia 7297 C0025267 Multiple Endocrine Neoplasia Type 1 SMDE01488 Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. D018761 131100 652 D44.8 C0025267 7298 C0025268 Multiple Endocrine Neoplasia Type 2a 7299 C0025269 Multiple Endocrine Neoplasia Type 2b 7300 C4274947 Multiple endocrine neoplasia type 4 SMDE00968 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. 610755 276152 D44.8 C1970712 7301 C1970712 Multiple Endocrine Neoplasia, Type IV SMDE04542 610755 C1970712 7302 C0026760 Multiple Epiphyseal Dysplasia dis_2961 7303 C4275061 Multiple epiphyseal dysplasia type 1 SMDE02157 Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. C535501 132400 93308 Q77.3 C1838280 7304 C4275060 Multiple epiphyseal dysplasia type 5 SMDE01008 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. C535505 607078 93311 Q77.3 C1846843 7305 C3809918 MULTIPLE FIBROADENOMAS OF THE BREAST SMDE04042 615554 C3809918 7306 C0346010 Multiple fibrofolliculomas 7307 C0220744 Multiple gastrointestinal atresias (disorder) 7308 C0751692 Multiple Hemangioblastomas 7309 C3278404 MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS SMDE01572 245600 C3278404 7310 C3502075 Multiple Mitochondrial Dysfunctions Syndrome 7311 C3276432 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 SMDE02515 605711 C3276432 7312 C3280378 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA SMDE02267 614299 C3280378 7313 C3809165 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 SMDE02878 615330 C3809165 7314 C4225348 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 SMDE01281 616370 C4225348 7315 C4539919 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5 7316 C4693741 MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 7317 C0026764 Multiple Myeloma dis_2966 SMDE00824 DIS00527 7318 C0026766 Multiple Organ Failure dis_2968 DIS00528 7319 C0265261 Multiple pterygium syndrome 7320 C1867440 Multiple Pterygium Syndrome, Autosomal Dominant 7321 C1854678 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE SMDE03283 253290 C1854678 7322 C0431718 Multiple renal cysts dis_2971 7323 C0026769 Multiple Sclerosis dis_2973 DIS00529 7324 C0751324 Multiple Sclerosis, Acute Fulminating 7325 C0393664 Multiple Sclerosis, Acute Relapsing 7326 C0751967 Multiple Sclerosis, Relapsing-Remitting 7327 C0345982 Multiple self-healing epithelioma of Ferguson-Smith 7328 C0546476 Multiple self-healing squamous epithelioma 7329 C4083047 MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 7330 C0268263 Multiple Sulfatase Deficiency Disease 7331 C0342282 Multiple synostoses syndrome 1 SMDE01204 186500 C0342282 7332 C1832708 MULTIPLE SYNOSTOSES SYNDROME 2 SMDE00275 610017 C1832708 7333 C2751826 Multiple Synostoses Syndrome 3 SMDE04753 612961 C2751826 7334 C4693531 MULTIPLE SYNOSTOSES SYNDROME 4 7335 C0175700 Multiple synostosis syndrome 7336 C0393571 Multiple System Atrophy 7337 C3714927 MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO 7338 C0260037 Multiple tumors 7339 C3151201 MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME SMDE00913 613834 C3151201 7340 C1969653 MUNGAN SYNDROME 7341 C0268123 Muscle AMP deaminase deficiency 7342 C0752251 Muscle Disease Manifestations 7343 C0457133 Muscle eye brain disease 7344 C0026826 Muscle Hypertonia 7345 C0236033 Muscle hypertrophy SMDE02119 614160 C0236033 7346 C0026827 Muscle hypotonia 7347 C0026837 Muscle Rigidity 7348 C0026838 Muscle Spasticity 7349 C0427202 Muscle Tone Atonic 7350 C0151786 Muscle Weakness dis_2989 7351 C0026846 Muscular Atrophy dis_2990 7352 C2931358 Muscular atrophy, spinal, infantile chronic form 7353 C0393538 Muscular Atrophy, Spinal, Type II 7354 C0686353 Muscular Dystrophies, Limb-Girdle 7355 C0026850 Muscular Dystrophy dis_2991 7356 C1263858 Muscular dystrophy congenital, merosin negative 7357 C0026851 Muscular Dystrophy, Animal 7358 C4225192 MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE 7359 C1847759 MUSCULAR DYSTROPHY, CONGENITAL, 1C 7360 C4310736 MUSCULAR DYSTROPHY, CONGENITAL, DAVIGNON-CHAUVEAU TYPE 7361 C2750786 Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency SMDE03147 613204 C2750786 7362 C2750785 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) 7363 C1865233 Muscular Dystrophy, Congenital, Megaconial Type SMDE00192 602541 C1865233 7364 C1837229 Muscular Dystrophy, Congenital, Type 1D 7365 C4479410 MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY 7366 C0013264 Muscular Dystrophy, Duchenne 7367 C0410189 Muscular Dystrophy, Emery-Dreifuss 7368 C0238288 Muscular Dystrophy, Facioscapulohumeral 7369 C4721885 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 7370 C4310660 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 7371 C4748327 MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 7372 C1832567 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C SMDE03137 607801 C1832567 7373 C3501858 Muscular Dystrophy, Limb-Girdle, Type 1D 7374 C3148763 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E SMDE00459 603511 C3148763 7375 C1842062 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 7376 C1850889 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B SMDE04614 253601 C1850889 7377 C1866008 Muscular Dystrophy, Limb-Girdle, Type 2G SMDE02008 601954 C1866008 7378 C1846672 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I 7379 C1837342 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J SMDE04090 608807 C1837342 7380 C1836373 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 7381 C1969785 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L (disorder) 7382 C1969040 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M 7383 C3150989 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q SMDE01070 613723 C3150989 7384 C0270952 Muscular Dystrophy, Oculopharyngeal 7385 C4284790 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 7386 C3554381 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 SMDE01897 615041 C3554381 7387 C3554638 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 SMDE02805 615181 C3554638 7388 C3808964 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 SMDE04266 615249 C3808964 7389 C3809042 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 SMDE03290 615287 C3809042 7390 C3809216 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 SMDE03181 615350 C3809216 7391 C3150411 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 SMDE00454 613150 C3150411 7392 C3151519 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3 SMDE00798 253280 C3151519 7393 C3150413 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 SMDE03146 613153 C3150413 7394 C3150414 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 SMDE01258 613154 C3150414 7395 C3553330 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 SMDE00096 614643 C3553330 7396 C3553813 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 SMDE01994 614830 C3553813 7397 C4225291 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 SMDE00991 616538 C4225291 7398 C3150415 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 SMDE00702 613155 C3150415 7399 C3809221 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 SMDE04600 615351 C3809221 7400 C3150416 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 SMDE02279 613156 C3150416 7401 C3150412 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 SMDE01329 613151 C3150412 7402 C2751052 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 SMDE04393 613152 C2751052 7403 C4015184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 SMDE01143 616094 C4015184 7404 C3714932 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 SMDE00040 615352 C3714932 7405 C3150418 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 SMDE00926 613158 C3150418 7406 C3150417 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3 SMDE04821 613157 C3150417 7407 C4015095 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 SMDE03446 616052 C4015095 7408 C4748320 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 7409 C3151184 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 SMDE02419 613818 C3151184 7410 C0015644 Muscular fasciculation 7411 C1853743 Muscular hypotonia of the trunk 7412 C0026858 Musculoskeletal Pain 7413 C0265964 Mutilating keratoderma 7414 C0026896 Myasthenia Gravis 7415 C0751339 Myasthenia Gravis, Generalized 7416 C0751340 Myasthenia Gravis, Ocular 7417 C1853949 MYASTHENIA, FAMILIAL INFANTILE, 1 7418 C0549225 Myasthenic Syndrome dis_2995 7419 C4225367 MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY SMDE02241 616326 C4225367 7420 C3552335 MYASTHENIC SYNDROME, CONGENITAL, 12 SMDE03348 610542 C3552335 7421 C3553645 MYASTHENIC SYNDROME, CONGENITAL, 13 SMDE01458 614750 C3553645 7422 C4015597 MYASTHENIC SYNDROME, CONGENITAL, 14 SMDE01109 616228 C4015597 7423 C4015596 MYASTHENIC SYNDROME, CONGENITAL, 15 SMDE04313 616227 C4015596 7424 C3280112 MYASTHENIC SYNDROME, CONGENITAL, 16 SMDE03420 614198 C3280112 7425 C4225377 MYASTHENIC SYNDROME, CONGENITAL, 17 SMDE02373 616304 C4225377 7426 C4225364 MYASTHENIC SYNDROME, CONGENITAL, 18 SMDE01298 616330 C4225364 7427 C4225235 MYASTHENIC SYNDROME, CONGENITAL, 19 SMDE00738 616720 C4225235 7428 C4084823 MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL SMDE03608 601462 C4084823 7429 C4225405 MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL SMDE01118 608930 C4225405 7430 C4310694 MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC 7431 C4310654 MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC 7432 C4479088 MYASTHENIC SYNDROME, CONGENITAL, 22 7433 C4748678 MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 7434 C4748684 MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC 7435 C4225374 MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL SMDE04704 616313 C4225374 7436 C4225373 MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY SMDE03119 616314 C4225373 7437 C4225372 MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL SMDE02637 616321 C4225372 7438 C4225371 MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL SMDE03004 616322 C4225371 7439 C4225370 MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY SMDE03801 616323 C4225370 7440 C4225413 MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL SMDE01961 605809 C4225413 7441 C4225369 MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL SMDE03436 616324 C4225369 7442 C4015038 MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC SMDE00756 616040 C4015038 7443 C3808739 MYASTHENIC SYNDROME, CONGENITAL, 8 SMDE00038 615120 C3808739 7444 C4225368 MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY SMDE03714 616325 C4225368 7445 C1837091 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 7446 C1837122 Myasthenic Syndrome, Congenital, Fast-Channel 7447 C2931107 Myasthenic syndrome, congenital, postsynaptic slow-channel 7448 C1837092 Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 7449 C0751882 Myasthenic Syndromes, Congenital 7450 C0751885 Myasthenic Syndromes, Congenital, Slow Channel 7451 C1608955 Mycobacterium abscessus Infection 7452 C0026918 Mycobacterium Infections 7453 C0026919 Mycobacterium Infections, Nontuberculous 7454 C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) 7455 C2936833 Mycobacterium tuberculosis, susceptibility to infection by 7456 C0026936 Mycoplasma Infections 7457 C3658301 Mycoplasma-Induced Stevens-Johnson Syndrome 7458 C0026948 Mycosis Fungoides 7459 C0751005 Mycotic Aneurysm, Intracranial 7460 C2677092 MYD88 Deficiency 7461 C0086664 Myelocele 7462 C1327919 Myelocerebellar Disorder 7463 C0026985 Myelodysplasia dis_2999 7464 C3463824 MYELODYSPLASTIC SYNDROME SMDE03250 DIS00530 614286 C3463824 7465 C1292779 Myelodysplastic Syndrome with Isolated del(5q) 7466 C1301355 Myelodysplastic-Myeloproliferative Diseases 7467 C0026987 Myelofibrosis dis_3001 SMDE04455 7468 C4545381 Myeloid and/or lymphoid neoplasm associated with platelet derived growth factor receptor alpha rearrangement 7469 C0023470 Myeloid Leukemia 7470 C0023473 Myeloid Leukemia, Chronic 7471 C3472621 Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement 7472 C1834176 MYELOKATHEXIS, ISOLATED 7473 C0027019 Myelomonocytic leukemia 7474 C0270765 Myelopathic Muscular Atrophy 7475 C0398595 Myeloperoxidase Deficiency SMDE01161 254600 C0398595 7476 C0027022 Myeloproliferative disease 7477 C1851585 MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA SMDE04447 131440 C1851585 7478 C1333046 Myeloproliferative Neoplasm, Unclassifiable 7479 C1834582 MYELOPROLIFERATIVE SYNDROME, TRANSIENT 7480 C4225174 MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO 7481 C0796081 Myhre syndrome SMDE01404 139210 C0796081 7482 C0036529 Myocardial Diseases, Secondary 7483 C1959583 Myocardial Failure 7484 C0027051 Myocardial Infarction dis_3014 DIS00533 7485 C1832662 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO 7486 C0151744 Myocardial Ischemia dis_3016 DIS00535 7487 C0086666 Myocardial Preinfarction Syndrome 7488 C0027055 Myocardial Reperfusion Injury dis_3018 7489 C0206146 Myocardial Stunning 7490 C0027059 Myocarditis dis_3020 7491 C0393703 Myoclonic Absence Epilepsy 7492 C0393702 Myoclonic Astatic Epilepsy 7493 C1834570 Myoclonic dystonia 7494 C0438414 Myoclonic Encephalopathy 7495 C0751778 Myoclonic Epilepsies, Progressive 7496 C0014550 Myoclonic Epilepsy 7497 C4552768 Myoclonic Epilepsy, Adolescent 7498 C4553087 Myoclonic Epilepsy, Juvenile, 1 7499 C4317123 Myoclonic Seizures 7500 C4085238 MYOCLONIC-ATONIC EPILEPSY SMDE04355 616421 C4085238 7501 C0027066 Myoclonus dis_3023 7502 C0751348 Myoclonus Simplex 7503 C0751354 Myoclonus, Action 7504 C0751349 Myoclonus, Eyelid 7505 C3539916 MYOCLONUS, FAMILIAL CORTICAL SMDE00624 614937 C3539916 7506 C0021712 Myoclonus, Intention 7507 C4310658 MYOCLONUS, INTRACTABLE, NEONATAL 7508 C0751350 Myoclonus, Lower Extremity 7509 C0751352 Myoclonus, Nocturnal 7510 C0585540 Myoclonus, Oculopalatal 7511 C0030214 Myoclonus, Palatal 7512 C0751351 Myoclonus, Segmental 7513 C0751353 Myoclonus, Upper Extremity 7514 C2678065 Myofibrillar Myopathy dis_3024 7515 C0206648 Myofibromatosis 7516 C4551572 MYOFIBROMATOSIS, INFANTILE, 1 SMDE01055 228550 C0432284 7517 C3809084 MYOFIBROMATOSIS, INFANTILE, 2 SMDE00679 615293 C3809084 7518 C0027080 Myoglobinuria dis_3025 7519 C1849386 Myoglobinuria, Acute Recurrent, Autosomal Recessive SMDE04293 268200 C1849386 7520 C0684219 Myokymia dis_3026 7521 C1096309 Myolipoma 7522 C1563709 Myopathic Ophthalmopathy 7523 C0206157 Myopathies, Nemaline 7524 C0026848 Myopathy dis_3029 7525 C3714933 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY SMDE04836 615511 C3714933 7526 C0410214 Myopathy with Abnormal Lipid Metabolism 7527 C1850718 MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE 7528 C3810285 MYOPATHY WITH EXTRAPYRAMIDAL SIGNS SMDE01045 615673 C3810285 7529 C2750537 Myopathy, Actin, Congenital, With Cores 7530 C1834339 Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 7531 C3280679 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET SMDE04205 614399 C3280679|C3541476 7532 C3541476 MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT 7533 C4310731 MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES 7534 C4551952 Myopathy, Centronuclear, 1 SMDE01721 160150 C1834558 7535 C3280703 MYOPATHY, CENTRONUCLEAR, 3 SMDE01896 614408 C3280703 7536 C3553709 MYOPATHY, CENTRONUCLEAR, 4 SMDE01136 614807 C3553709 7537 C4014814 MYOPATHY, CENTRONUCLEAR, 5 SMDE03675 615959 C4014814 7538 C4540345 MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION 7539 C1834558 Myopathy, Centronuclear, Autosomal Dominant 7540 C0410204 Myopathy, Centronuclear, Autosomal Recessive 7541 C1850746 Myopathy, congenital nonprogressive with Moebius and Robin sequences 7542 C2675527 Myopathy, Congenital, Compton-North SMDE03874 612540 C2675527 7543 C1853723 MYOPATHY, DISTAL 2 7544 C3279722 MYOPATHY, DISTAL, 4 SMDE03489 614065 C3279722 7545 C4310754 MYOPATHY, DISTAL, 5 7546 C3280443 MYOPATHY, DISTAL, TATEYAMA TYPE SMDE03664 614321 C3280443 7547 C1847532 MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET SMDE02551 606768 C1847532 7548 C2673677 Myopathy, Early-Onset, with Fatal Cardiomyopathy SMDE01256 611705 C2673677 7549 C1850709 Myopathy, Hyaline Body, Autosomal Recessive 7550 C4015513 MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT SMDE03166 616209 C4015513 7551 C4551958 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 SMDE00701 600462 C1838103 7552 C3150802 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 SMDE03524 613561 C3150802 7553 C4225415 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3 7554 C2751320 Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay SMDE00782 613076 C2751320 7555 C4540096 MYOPATHY, MITOCHONDRIAL, AND ATAXIA 7556 C3714934 MYOPATHY, MYOFIBRILLAR, 3 SMDE00821 609200 C3714934|C1836607 7557 C4721886 MYOPATHY, MYOFIBRILLAR, 4 SMDE03711 609452 C1836155 7558 C4310711 MYOPATHY, MYOFIBRILLAR, 7 7559 C4310645 MYOPATHY, MYOFIBRILLAR, 8 7560 C2751831 Myopathy, Myofibrillar, Bag3-Related 7561 C1832370 MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 7562 C3151236 MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED SMDE00240 613869 C3151236 7563 C1836155 Myopathy, Myofibrillar, Zasp-Related 7564 C1842160 MYOPATHY, MYOSIN STORAGE (disorder) 7565 C2678015 Myopathy, Reducing Body, X-Linked, Childhood-Onset 7566 C2678027 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 7567 C4225181 MYOPATHY, SCAPULOHUMEROPERONEAL SMDE01394 616852 C4225181 7568 C4011726 MYOPATHY, TUBULAR AGGREGATE, 1 SMDE03354 160565 C4011726|C0410207 7569 C4014557 MYOPATHY, TUBULAR AGGREGATE, 2 SMDE04928 615883 C4014557 7570 C4015624 MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES SMDE02229 616231 C4015624 7571 C2678055 MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 7572 C0027092 Myopia dis_3031 7573 C3279997 MYOPIA 21, AUTOSOMAL DOMINANT SMDE02444 614167 C3279997 7574 C3809464 MYOPIA 22, AUTOSOMAL DOMINANT SMDE02722 615420 C3809464 7575 C3809482 MYOPIA 23, AUTOSOMAL RECESSIVE SMDE04970 615431 C3809482 7576 C4014762 MYOPIA 24, AUTOSOMAL DOMINANT SMDE03960 615946 C4014762 7577 C4310655 MYOPIA 25, AUTOSOMAL DOMINANT 7578 C4538795 MYOPIA 26, X-LINKED, FEMALE-LIMITED 7579 C1837148 MYOPIA 6 (disorder) 7580 C3280346 MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION SMDE01203 614292 C3280346 7581 C2931111 Myopia, susceptibility to 7582 C1611706 Myosclerosis 7583 C1850671 Myosclerosis, Autosomal Recessive SMDE00557 255600 C1850671 7584 C0027121 Myositis dis_3033 7585 C0027122 Myositis Ossificans 7586 C0751357 Myositis, Focal 7587 C0544796 Myositis, Proliferative 7588 C2931112 Myostatin-related muscle hypertrophy 7589 C0027125 Myotonia dis_3034 7590 C0027127 Myotonia Congenita 7591 C0752355 Myotonia Fluctuans (disorder) 7592 C0270959 Myotonia Levior 7593 C0553604 Myotonic Disorders 7594 C0027126 Myotonic Dystrophy dis_3039 7595 C3250443 MYOTONIC DYSTROPHY 1 SMDE04914 160900 C3250443 7596 C0751358 Myotonic Phenomenon 7597 C1846169 Myotubular Myopathy with Abnormal Genital Development 7598 C1578691 Myxedema, Congenital 7599 C0205766 Myxofibroma 7600 C0027149 Myxoma 7601 C0205769 Myxopapillary ependymoma 7602 C3279716 N-ACETYLASPARTATE DEFICIENCY SMDE00825 614063 C3279716 7603 C0268193 NADH cytochrome B5 reductase deficiency 7604 C2749561 Nadh-Cytochrome B5 Reductase Deficiency, Type I 7605 C2749562 Nadh-Cytochrome B5 Reductase Deficiency, Type Ii 7606 C0343111 Naegeli syndrome 7607 C0265245 Nager syndrome SMDE01614 Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. C538184 154400 245 Q75.4 C0265245 7608 C4014987 Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome 7609 C0027339 Nail Diseases 7610 C3279974 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10 SMDE02720 614157 C3279974 7611 C0544855 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 SMDE03751 151600 C0263532|C3276977|C0544855 7612 C3277900 NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 SMDE03285 206800 C3277900 7613 C0027341 Nail-Patella Syndrome SMDE04194 Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. D009261 161200 2614 Q87.2 C0027341 7614 C0796083 Najjar syndrome 7615 C1850568 Nakajo syndrome 7616 C2931821 Nakamura Osame syndrome 7617 C0432214 Namaqualand hip dysplasia 7618 C0796085 Nance-Horan syndrome SMDE01270 Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism. C538336 302350 627 Q87.0 C0796085 7619 C1836006 NANOPHTHALMOS 2 (disorder) 7620 C4014848 NANOPHTHALMOS 4 SMDE04888 615972 C4014848 7621 C0027404 Narcolepsy dis_3044 7622 C1834372 Narcolepsy 1 SMDE04431 161400 C0007384|C1834372 7623 C3280266 NARCOLEPSY 7 SMDE01496 614250 C3280266 7624 C0751362 Narcolepsy-Cataplexy Syndrome SMDE03999 Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). D009290 612417|605841|614250|161400|612851|609039|614223 2073 G47.4 C0751362|C0027404 7625 C0234447 Narcosis 7626 C0524661 Narcotic Abuse 7627 C1527402 Narcotic Dependence 7628 C0027429 Nasal obstruction present finding 7629 C0027430 Nasal Polyps 7630 C0392788 Nasal Type Extranodal NK/T-Cell Lymphoma 7631 C1850627 Nasodigitoacoustic syndrome 7632 C2931822 Nasopharyngeal carcinoma SMDE02318 607107 C1846758|C2931822 7633 C4310729 NASOPHARYNGEAL CARCINOMA, SUSCEPTIBILITY TO, 3 7634 C0027439 Nasopharyngeal Neoplasms 7635 C1850625 Native American myopathy SMDE04794 255995 C1850625 7636 C1864947 Natural Killer Cell Deficiency, Familial Isolated 7637 C0027497 Nausea dis_3050 7638 C1850407 Navajo Familial Neurogenic Arthropathy 7639 C1850406 NAVAJO NEUROHEPATOPATHY 7640 C1832600 Naxos disease SMDE04417 Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplar keratoderma. C538346 601214 34217 Q87.8 C1832600 7641 C0027533 Neck Neoplasms 7642 C0027540 Necrosis dis_3056 7643 C2931891 Necrotizing encephalopathy, infantile subacute, of Leigh 7644 C0520459 Necrotizing Enterocolitis 7645 C0085396 Neisseriaceae Infections 7646 C1836448 Nemaline myopathy 1 SMDE03340 609284 C3714994|C1836448 7647 C4015360 NEMALINE MYOPATHY 10 SMDE03572 616165 C4015360 7648 C4479186 NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE 7649 C1850569 Nemaline Myopathy 2 SMDE00585 256030 C1850569 7650 C1836447 Nemaline myopathy 4 SMDE05095 609285 C1836447|C3807907 7651 C1854380 NEMALINE MYOPATHY 5 SMDE02559 605355 C1854380 7652 C1836472 Nemaline myopathy 6 SMDE01919 609273 C1836472 7653 C1853154 Nemaline Myopathy 7 SMDE05184 610687 C1853154 7654 C3809209 NEMALINE MYOPATHY 8 SMDE04197 615348 C3809209 7655 C3810384 NEMALINE MYOPATHY 9 SMDE03772 615731 C3810384 7656 C0546125 Nemaline Myopathy, Childhood Onset 7657 C2936380 Neointima 7658 C2936381 Neointima Formation 7659 C3853779 Neonatal Alloimmune Thrombocytopenia 7660 C0410916 Neonatal Death 7661 C0158981 Neonatal diabetes mellitus 7662 C0021290 Neonatal disorder 7663 C0475718 Neonatal hyperglycemia 7664 C2267233 Neonatal Hypotonia 7665 C4751120 Neonatal inflammatory skin and bowel disease 7666 C0022353 Neonatal Jaundice dis_3064 DIS00540 7667 C4016054 Neonatal Marfan syndrome SMDE01198 Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. 284979 Q87.4 7668 C0027626 Neoplasm Invasiveness dis_3071 7669 C0027627 Neoplasm Metastasis dis_3072 DIS00541 7670 C0345832 Neoplasm of small intestine 7671 C0496930 Neoplasm of uncertain or unknown behavior of bladder 7672 C0496956 Neoplasm of uncertain or unknown behavior of breast 7673 C0496920 Neoplasm of uncertain or unknown behavior of ovary 7674 C0496905 Neoplasm of uncertain or unknown behavior of stomach 7675 C0496924 Neoplasm of uncertain or unknown behavior of testis 7676 C0027643 Neoplasm Recurrence, Local 7677 C0027645 Neoplasm Seeding 7678 C0242596 Neoplasm, Residual 7679 C0027651 Neoplasms DIS00542 7680 C0206639 Neoplasms, Bone Tissue 7681 C0205852 Neoplasms, Embryonal and Mixed 7682 C0027659 Neoplasms, Experimental 7683 C0027658 Neoplasms, Germ Cell and Embryonal 7684 C0027660 Neoplasms, Glandular and Epithelial 7685 C0027661 Neoplasms, Hormone-Dependent 7686 C1527390 Neoplasms, Intracranial 7687 C0027666 Neoplasms, Radiation-Induced 7688 C0085183 Neoplasms, Second Primary 7689 C0086696 Neoplasms, Therapy-Associated 7690 C0007621 Neoplastic Cell Transformation dis_3090 7691 C0027697 Nephritis dis_3093 7692 C0027707 Nephritis, Interstitial dis_3095 7693 C0041349 Nephritis, Tubulointerstitial 7694 C0027708 Nephroblastoma dis_3096 SMDE03867 7695 C0796113 Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor 7696 C0027709 Nephrocalcinosis dis_3098 7697 C0162283 Nephrogenic Diabetes Insipidus dis_3099 SMDE00073 DIS00545 7698 C1563705 Nephrogenic Diabetes Insipidus, Type I 7699 C1563706 Nephrogenic Diabetes Insipidus, Type II 7700 C1619692 Nephrogenic Fibrosing Dermopathy 7701 C1845202 Nephrogenic Syndrome of Inappropriate Antidiuresis SMDE03963 300539 C1845202 7702 C0392525 Nephrolithiasis dis_3100 7703 C1833683 NEPHROLITHIASIS, CALCIUM OXALATE SMDE03982 167030 C0022650|C1833683 7704 C2700426 NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO (finding) 7705 C2676786 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 7706 C2676782 Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 7707 C0687120 Nephronophthisis dis_3101 7708 C4551979 Nephronophthisis 1 SMDE03196 256100 C1855681 7709 C3150796 NEPHRONOPHTHISIS 11 SMDE01447 613550 C3150796 7710 C3151186 NEPHRONOPHTHISIS 12 SMDE04846 613820 C3151186|C3279203 7711 C3280612 NEPHRONOPHTHISIS 13 7712 C3539071 NEPHRONOPHTHISIS 14 SMDE00731 614844 C3539071|C3553846 7713 C3541853 NEPHRONOPHTHISIS 15 SMDE00284 614845 C3541853 7714 C3809320 NEPHRONOPHTHISIS 16 SMDE03050 615382 C3809320 7715 C3890591 NEPHRONOPHTHISIS 18 SMDE00605 615862 C3890591 7716 C4015542 NEPHRONOPHTHISIS 19 SMDE04322 616217 C4015542 7717 C1865872 NEPHRONOPHTHISIS 2 SMDE02030 602088 C1865872 7718 C4310640 NEPHRONOPHTHISIS 20 7719 C1858392 NEPHRONOPHTHISIS 3 SMDE02342 604387 C1858392 7720 C1847013 NEPHRONOPHTHISIS 4 SMDE04656 606966 C1847013 7721 C1969092 NEPHRONOPHTHISIS 7 SMDE03696 611498 C1969092 7722 C3151188 NEPHRONOPHTHISIS 9 SMDE02776 613824 C3151188 7723 C2959367 Nephronophthisis type 4 7724 C1855681 Nephronophthisis, familial juvenile 7725 C3280617 Nephronophthisis-like nephropathy 7726 C3150419 NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 SMDE04968 613159 C3150419 7727 C2931187 Nephropathic cystinosis 7728 C1836823 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness SMDE00310 609057 C1836823 7729 C0027719 Nephrosclerosis dis_3104 7730 C0027720 Nephrosis dis_3105 DIS00546 7731 C3501848 Nephrosis, congenital 7732 C0027726 Nephrotic Syndrome dis_3106 7733 C3501249 Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome 7734 C1704321 Nephrotic Syndrome, Minimal Change 7735 C1868672 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 7736 C4014507 NEPHROTIC SYNDROME, TYPE 10 SMDE00935 615861 C4014507 7737 C4225228 NEPHROTIC SYNDROME, TYPE 11 SMDE05147 616730 C4225228 7738 C4225166 NEPHROTIC SYNDROME, TYPE 12 SMDE01444 616892 C4225166 7739 C4225165 NEPHROTIC SYNDROME, TYPE 13 SMDE00412 616893 C4225165 7740 C4540559 NEPHROTIC SYNDROME, TYPE 14 7741 C4539896 NEPHROTIC SYNDROME, TYPE 15 7742 C4540453 NEPHROTIC SYNDROME, TYPE 16 7743 C4748545 NEPHROTIC SYNDROME, TYPE 17 7744 C4748549 NEPHROTIC SYNDROME, TYPE 18 7745 C4748552 NEPHROTIC SYNDROME, TYPE 19 7746 C1853124 NEPHROTIC SYNDROME, TYPE 3 SMDE00878 610725 C1853124 7747 C3151568 NEPHROTIC SYNDROME, TYPE 4 dis_3108 SMDE04720 7748 C3280113 NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES SMDE03037 614199 C3280113 7749 C3280100 NEPHROTIC SYNDROME, TYPE 6 SMDE01619 614196 C3280100 7750 C3554330 NEPHROTIC SYNDROME, TYPE 7 SMDE01828 615008 C3554330|C3808620 7751 C3808953 NEPHROTIC SYNDROME, TYPE 8 SMDE03918 615244 C3808953 7752 C3809965 NEPHROTIC SYNDROME, TYPE 9 SMDE01739 615573 C3809965 7753 C0027746 Nerve Degeneration dis_3109 7754 C0751372 Nerve Pain 7755 C0206727 Nerve Sheath Tumors 7756 C0235083 Nerve Tremors 7757 C0750945 Nervous System Diseases, Parasympathetic 7758 C0750946 Nervous System Diseases, Sympathetic 7759 C0027765 nervous system disorder dis_3111 7760 C0274862 Nervous System, Organic Arsenic Poisoning 7761 C3151446 Nestor Guillermo progeria syndrome 7762 C0265218 Neu-Laxova syndrome 7763 C4551478 NEU-LAXOVA SYNDROME 1 SMDE03016 256520 C0265218 7764 C4015019 NEU-LAXOVA SYNDROME 2 SMDE02881 616038 C4015019 7765 C2931189 Neural crest tumor 7766 C3149266 Neural tissue tumors 7767 C1866558 Neural tube defect, folate-sensitive 7768 C0027794 Neural Tube Defects dis_3112 DIS00548 7769 C3891448 NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO SMDE03846 182940 C0080178|C3891448 7770 C0027796 Neuralgia dis_3113 7771 C0234247 Neuralgia, Atypical 7772 C0423712 Neuralgia, Iliohypogastric Nerve 7773 C0751371 Neuralgia, Ilioinguinal 7774 C0423711 Neuralgia, Perineal 7775 C0234249 Neuralgia, Stump 7776 C0038870 Neuralgia, Supraorbital 7777 C0042656 Neuralgia, Vidian 7778 C0751924 Neuralgia-Neuritis, Sciatic Nerve 7779 C1510479 Neuralgic Amyotrophy SMDE02775 Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. 162100 2901 G54.5 C1510479|C0221759 7780 C0268228 Neuraminidase 1 deficiency 7781 C0027806 Neurenteric Cyst 7782 C0027809 Neurilemmoma 7783 C0338473 Neuroaxonal Dystrophies 7784 C0525041 Neurobehavioral Manifestations 7785 C0027819 Neuroblastoma dis_3114 SMDE02773 DIS00549 7786 C2751682 NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 SMDE05027 613013 C2751682|C2751683 7787 C2751681 NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 7788 C0027821 Neurocirculatory Asthenia 7789 C4041080 Neurocognitive Disorders 7790 C0544862 Neurocutaneous melanosis 7791 C3805812 NEUROCUTANEOUS MELANOSIS, SOMATIC 7792 C0265316 Neurocutaneous Syndromes 7793 C2751584 Neurodegeneration Due To Cerebral Folate Transport Deficiency SMDE01137 613068 C2751584 7794 C4310693 NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET 7795 C2931845 Neurodegeneration with brain iron accumulation (NBIA) 7796 C1857747 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) 7797 C3280371 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 SMDE01998 614298 C3280371 7798 C3550973 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 SMDE00947 300894 C3550973 7799 C3810230 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 SMDE04747 615643 C3810230 7800 C4693583 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 7801 C4693587 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 7802 C4748527 NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES 7803 C4540086 NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 7804 C4748934 NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY 7805 C0524851 Neurodegenerative Disorders 7806 C4022738 Neurodevelopmental delay dis_3120 7807 C4540498 NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER 7808 C4748032 NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES 7809 C4540327 NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 7810 C4748137 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM 7811 C4479333 NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION 7812 C4479603 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS 7813 C4310643 NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE SMDE03057 617268 C4310643 7814 C4749014 NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA 7815 C4479569 NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS 7816 C4540188 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES 7817 C4693567 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES 7818 C4693390 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY 7819 C4479566 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES 7820 C4540493 NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY 7821 C4479613 NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS 7822 C4693405 NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES 7823 C4310772 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART 7824 C3280282 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 7825 C4693325 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 7826 C4693391 NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES 7827 C4693546 NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS 7828 C4479631 NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 7829 C4748127 NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 7830 C4540496 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE 7831 C4693816 NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES 7832 C4748081 NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 7833 C4540192 NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES 7834 C1535926 Neurodevelopmental Disorders 7835 C0206663 Neuroectodermal Tumor, Primitive 7836 C0206093 Neuroectodermal Tumors 7837 C3161105 Neuroendocrine cell hyperplasia of infancy 7838 C0206754 Neuroendocrine Tumors dis_3121 DIS00551 7839 C1853578 Neuroferritinopathy SMDE03419 Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits. C548080 606159 157846 G23.0 C1853578 7840 C0027830 neurofibroma 7841 C0162678 Neurofibromatoses 7842 C0027831 Neurofibromatosis 1 7843 C0027832 Neurofibromatosis 2 7844 C0917817 Neurofibromatosis 3 7845 C1834235 NEUROFIBROMATOSIS, FAMILIAL SPINAL SMDE04554 162210 C1834235 7846 C1969623 NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME 7847 C2931480 Neurofibromatosis, Type 3, mixed central and peripheral 7848 C2931482 Neurofibromatosis-Noonan syndrome SMDE01133 Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1; see this term) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS). C537393|D009456 601321 638 Q87.1 C2931482|C0553586 7849 C0206729 Neurofibrosarcoma dis_3124 7850 C0600467 Neurogenic Inflammation dis_3127 DIS00553 7851 C0270948 Neurogenic Muscular Atrophy 7852 C0005697 Neurogenic Urinary Bladder 7853 C0149622 Neurogenic Urinary Bladder, Atonic 7854 C0750955 Neurogenic Urinary Bladder, Spastic 7855 C0392115 Neurogenic Urinary Bladder, Uninhibited 7856 C0521654 Neurologic Deficits 7857 C0751377 Neurologic Dysfunction 7858 C0027854 Neurologic Manifestations 7859 C0751378 Neurologic Signs 7860 C0235031 Neurologic Symptoms 7861 C4015728 NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET SMDE03271 616263 C4015728 7862 C0422837 Neurological observations 7863 C1136042 Neuroma, Acoustic, Bilateral 7864 C2674259 NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder) 7865 C0027868 Neuromuscular Diseases 7866 C0752252 Neuromuscular Manifestations 7867 C0027873 Neuromyelitis Optica 7868 C1864669 NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY 7869 C4284284 Neuronal Ceroid Lipofuscinosis Type 4B 7870 C1864670 Neuronal Ceroid Lipofuscinosis, Congenital 7871 C0027877 Neuronal Ceroid-Lipofuscinoses 7872 C1855733 Neuronal intestinal pseudoobstruction 7873 C1863843 Neuronal intranuclear inclusion disease 7874 C1834692 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA SMDE01612 158590 C1834692 7875 C2608087 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB SMDE03980 608634 C2608087 7876 C3150619 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC SMDE01822 613376 C3150619 7877 C3888271 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID SMDE03962 615575 C3888271 7878 C4540265 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX 7879 C1833308 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 7880 C3553656 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB SMDE01905 614751 C3553656 7881 C1843315 Neuronopathy, Distal Hereditary Motor, Type Viib SMDE00819 607641 C1843315 7882 C0524679 Neuropapillitis 7883 C0442874 Neuropathy dis_3141 7884 C1328349 Neuropathy ataxia and retinis pigmentosa 7885 C4721436 NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE 7886 C4722277 NEUROPATHY, CONGENITAL HYPOMYELINATING, 2 7887 C4748608 NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 7888 C1834703 Neuropathy, Distal Hereditary Motor, Type VIIA 7889 C1858338 Neuropathy, hereditary motor and sensory, Okinawa type SMDE00008 604484 C1858338 7890 C1854449 Neuropathy, hereditary motor and sensory, Russe type SMDE04408 605285 C1854449 7891 C4225302 NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB SMDE04159 616505 C4225302 7892 C3150896 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC SMDE05026 613640 C3150896 7893 C2752089 Neuropathy, Hereditary Sensory And Autonomic, Type IIA SMDE01355 201300 C0751540|C2752089 7894 C2751092 Neuropathy, Hereditary Sensory And Autonomic, Type IIB SMDE03462 613115 C2751092 7895 C3539003 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI SMDE02690 614653 C3539003 7896 C3809882 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII SMDE04149 615548 C3809882 7897 C4225308 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII SMDE01647 616488 C4225308 7898 C3150972 NEUROPATHY, HEREDITARY SENSORY, TYPE ID SMDE02999 613708 C3150972 7899 C3810194 NEUROPATHY, HEREDITARY SENSORY, TYPE IF SMDE03770 615632 C3810194 7900 C3280168 NEUROPATHY, HEREDITARY SENSORY, TYPE IIC SMDE04899 614213 C3280168 7901 C1850395 Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive SMDE04504 256840 C1850395 7902 C4225406 NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION SMDE03550 608895 C4225406|C1837187 7903 C1850383 Neuropathy, Painful 7904 C0752335 Neuropsychiatric Systemic Lupus Erythematosus 7905 C0154874 Neuroretinitis 7906 C1142379 Neurotmesis 7907 C0235032 Neurotoxicity Syndromes DIS00563 7908 C1853136 Neutral Lipid Storage Disease with Myopathy SMDE03723 610717 C1853136 7909 C0027947 Neutropenia dis_3144 DIS00564 7910 C2930809 Neutropenia and hyperlymphocytosis with large granular lymphocytes 7911 C1842930 Neutropenia, Nonimmune Chronic Idiopathic, Adult 7912 C3809031 NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE SMDE04984 615285 C3809031 7913 C4014954 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE SMDE01288 616022 C4014954 7914 C4310764 NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE 7915 C1859966 Neutropenia, Severe Congenital, Autosomal Dominant 1 7916 C2751288 Neutropenia, Severe Congenital, Autosomal Dominant 2 7917 C2675526 Neutropenia, Severe Congenital, Autosomal Recessive 4 7918 C1845987 Neutropenia, Severe Congenital, X-Linked SMDE00387 300299 C1845987 7919 C0400823 Neutropenic colitis 7920 C1842398 Neutrophil Immunodeficiency Syndrome SMDE02372 Neutrophil immunodeficiency syndrome is a primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. 608203 183707 D71 C1842398 7921 C0543669 Neutrophilia, Hereditary SMDE03149 162830 C0543669 7922 C0206769 Nevi and Melanomas 7923 C2931029 Nevi flammei, familial multiple 7924 C2936777 Nevo syndrome (disorder) 7925 C0027960 Nevus dis_3149 7926 C0265987 Nevus comedonicus 7927 C3854181 Nevus sebaceous dis_3150 7928 C4552097 Nevus Sebaceus of Jadassohn 7929 C0334082 NEVUS, EPIDERMAL (disorder) 7930 C4011754 Nevus, Keratinocytic, Nonepidermolytic 7931 C0376329 New Variant Creutzfeldt-Jakob Disease 7932 C1565887 Newborn physiological jaundice 7933 C1843815 Newfoundland Rod-Cone Dystrophy SMDE01293 607476 C1843815 7934 C3150928 NF1 Microdeletion Syndrome 7935 C3808991 NGLY1 deficiency 7936 C1303073 Nicolaides Baraitser syndrome 7937 C0028043 Nicotine Dependence dis_3151 7938 C0376384 Nicotine Use Disorder 7939 C0268242 Niemann-Pick Disease, Type A SMDE00083 257200 C0268242|C2675646 7940 C0268243 Niemann-Pick Disease, Type B SMDE04407 607616 C2675644|C1843418|C0268243|C0268248 7941 C0220756 Niemann-Pick Disease, Type C 7942 C3179455 Niemann-Pick Disease, Type C1 SMDE02179 257220 C0268247|C1850363|C0220756|C3179455 7943 C1843366 NIEMANN-PICK DISEASE, TYPE C2 SMDE03487 607625 C1843366 7944 C0268247 Niemann-Pick Disease, Type D 7945 C0268248 Niemann-Pick Disease, Type E 7946 C0028064 Niemann-Pick Diseases 7947 C0339535 Night blindness, congenital stationary 7948 C1864869 Night Blindness, Congenital Stationary, Autosomal Dominant 1 SMDE00476 610445 C1864869 7949 C1876182 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 SMDE02349 163500 C1876182 7950 C1864870 Night Blindness, Congenital Stationary, Autosomal Dominant 3 SMDE04472 610444 C1864870 7951 C3501847 Night blindness, congenital stationary, type 1 7952 C3495587 Night Blindness, Congenital Stationary, Type 1A SMDE03384 310500 C3495587|C0028077 7953 C1850362 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B SMDE03774 257270 C1850362 7954 C2750747 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C SMDE02589 613216 C2750747 7955 C3151193 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D SMDE03881 613830 C3151193 7956 C3281215 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E SMDE04120 614565 C3281215 7957 C3554399 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F SMDE02563 615058 C3554399 7958 C4225345 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G SMDE01269 616389 C4225345 7959 C4310758 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H 7960 C1848172 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A SMDE01327 300071 C1848172 7961 C1864877 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B (disorder) 7962 C0398791 Nijmegen Breakage Syndrome SMDE00393 Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. D049932|C531759 251260 647 Q87.8 C0398791|C1855057|C2930831 7963 C2751318 Nijmegen Breakage Syndrome-Like Disorder SMDE03802 613078 C2751318 7964 C1838654 Nivelon Nivelon Mabille syndrome 7965 C4693357 NK cell deficiency 7966 C0752292 Nocturnal Eating-Drinking Syndrome 7967 C0264893 Nodal rhythm disorder 7968 C0546878 Nodding spasm 7969 C0343097 Nodular Elastoidosis 7970 C0410005 Nodular fasciitis 7971 C0017667 Nodular glomerulosclerosis 7972 C1334968 Nodular Lymphocyte Predominant Hodgkin Lymphoma 7973 C0152268 Nodular Sclerosis Classical Hodgkin Lymphoma 7974 C0018781 Noise-induced hearing loss 7975 C0751759 Non-24 Hour Sleep-Wake Disorder 7976 C1853926 NONAKA MYOPATHY SMDE01507 605820 C1853926 7977 C0400966 Non-alcoholic Fatty Liver Disease dis_3158 7978 C3241937 Nonalcoholic Steatohepatitis 7979 C1847711 NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO 7980 C4324548 Non-compaction cardiomyopathy 7981 C1858725 NONCOMPACTION OF LEFT VENTRICULAR MYOCARDIUM, FAMILIAL ISOLATED, AUTOSOMAL DOMINANT 1 7982 C0751523 Non-Convulsive Status Epilepticus 7983 C0751056 Non-epileptic convulsion 7984 C3495874 Nonepileptic Seizures 7985 C0521761 Non-Fatigable Positional Nystagmus 7986 C0338078 Non-Functioning Pituitary Gland Neoplasm 7987 C1266158 Nongerminomatous Germ Cell Tumor 7988 C0007124 Noninfiltrating Intraductal Carcinoma 7989 C0751748 Nonketotic Hyperglycinemia dis_3166 7990 C3501843 Nonmedullary Thyroid Carcinoma 7991 C3852986 Nonocclusive Mesenteric Ischemia 7992 C0349255 Nonorganic Insomnia 7993 C0349204 Nonorganic psychosis dis_3169 7994 C0494410 Nonorganic Sleep Wake Cycle Disorders 7995 C0007131 Non-Small Cell Lung Carcinoma 7996 C3711374 Nonsyndromic Deafness 7997 C0028326 Noonan Syndrome SMDE01014 Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. D009634 613224|163950|613706|616564 648 Q87.1 C0028326 7998 C4551602 Noonan Syndrome 1 SMDE03883 163950 C0265261|C0028326|C0041409 7999 C4225280 NOONAN SYNDROME 10 SMDE01066 616564 C4225280 8000 C1854469 Noonan Syndrome 2 8001 C1860991 NOONAN SYNDROME 3 SMDE04000 609942 C1860991 8002 C1853120 Noonan Syndrome 4 SMDE02642 610733 C1853120 8003 C1969057 Noonan Syndrome 5 SMDE03461 611553 C1969057 8004 C2750732 Noonan Syndrome 6 SMDE03835 613224 C2750732 8005 C3150970 NOONAN SYNDROME 7 SMDE00540 613706 C3150970 8006 C3809233 NOONAN SYNDROME 8 SMDE02996 615355 C3809233 8007 C4225282 NOONAN SYNDROME 9 SMDE00396 616559 C4225282 8008 C1843181 Noonan syndrome-like disorder with loose anagen hair SMDE02968 Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays. 607721|617506 2701 Q87.1 C1843181|C3501846 8009 C4478716 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 8010 C4479577 NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 8011 C3150803 NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA SMDE03747 613563 C3150803 8012 C3501846 Noonan-Like Syndrome With Loose Anagen Hair 8013 C0232347 No-Reflow Phenomenon 8014 C2675206 Normal serum phytanic and pristanic acid 8015 C0266526 Norrie disease SMDE00497 Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. C537849 310600 649 H35.5 C0266526 8016 C1858051 NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS SMDE02887 604901 C1858051 8017 C0730294 North Carolina macular dystrophy 8018 C1864923 Northern epilepsy syndrome 8019 C0028433 Nose Neoplasms 8020 C0231918 Nose symptoms 8021 C1866430 NOVELTY SEEKING PERSONALITY TRAIT 8022 C1320474 Nuchal Rigidity 8023 C0392557 Nuclear cataract dis_3182 8024 C1112705 Nuclear non-senile cataract 8025 C4225160 NUDT15 deficiency 8026 C1707291 NUT midline carcinoma 8027 C0028077 Nyctalopia dis_3187 8028 C0028738 Nystagmus 8029 C1839580 Nystagmus 1, congenital, X- linked 8030 C3151752 NYSTAGMUS 6, CONGENITAL, X-LINKED SMDE01548 300814 C3151752 8031 C1963184 Nystagmus, CTCAE 3.0 8032 C4554036 Nystagmus, CTCAE 5.0 8033 C0028754 Obesity dis_3189 SMDE03022 DIS00572 8034 C4273958 Obesity due to melanocortin 4 receptor deficiency SMDE00623 Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. 601665 71529 E66.8 8035 C0311277 Obesity, Abdominal 8036 C3151303 Obesity, Hyperphagia, and Developmental Delay SMDE04225 613886 C3151303 8037 C0028756 Obesity, Morbid 8038 C1866432 OBESITY, SUSCEPTIBILITY TO 8039 C2936179 Obesity, Visceral 8040 C0028768 Obsessive-Compulsive Disorder dis_3194 DIS00573 8041 C4072872 obsolete Rod-cone dystrophy 8042 C1281931 Obstruction of nasolacrimal duct 8043 C0521619 Obstruction of pelviureteric junction 8044 C0597124 Obstructive asymmetric septal hypertrophy 8045 C0549423 Obstructive Hydrocephalus 8046 C0014067 Occipital Encephalocele 8047 C0393691 Occipital Lobe Epilepsy 8048 C3852985 Occlusive Mesenteric Arterial Ischemia 8049 C3150833 OCCULT MACULAR DYSTROPHY SMDE04876 613587 C3150833 8050 C0028797 Occupational Diseases dis_3201 8051 C0403555 Ochoa syndrome SMDE00735 Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. C536480 615112|236730 2704 N31.8 C0403555 8052 C2931645 Ochronosis, hereditary 8053 C4750999 Ocular albinism with congenital sensorineural deafness 8054 C0342684 Ocular albinism, type I 8055 C0268505 Ocular albinism, type II 8056 C1282359 Ocular Cicatricial Pemphigoid 8057 C0028838 Ocular Headache 8058 C0028840 Ocular Hypertension dis_3205 DIS00576 8059 C2677500 Oculoauricular Syndrome SMDE02567 612109 C2677500 8060 C0028860 Oculocerebrorenal Syndrome 8061 C0268494 Oculocutaneous albinism type 1 8062 C4551504 Oculocutaneous albinism type 1A SMDE01591 Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA (see this term), where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. 203100 79431 E70.3 8063 C0268495 Oculocutaneous albinism type 2 SMDE03154 Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. C537730 203200 79432 E70.3 C0268495 8064 C2931599 Oculocutaneous albinism type 3 SMDE03708 Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population. C537731|C537189 203290 79433 E70.3 C2931599|C0342683 8065 C3695272 Oculocutaneous albinism type 6 SMDE02658 Oculocutaneous albinism type 6 (OCA6) is a type of oculocutaneous albinism, recently discovered in one Chinese family, characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity and that is due to mutations in the SLC24A5 gene (15q21.1). 113750 370097 E70.3 8066 C1847836 Oculocutaneous Albinism, Type IV 8067 C2749477 Oculodentodigital Dysplasia, Autosomal Recessive SMDE01769 257850 C2749477 8068 C0812437 Oculo-dento-digital syndrome 8069 C0796068 Oculodigitoesophagoduodenal syndrome 8070 C0085637 Oculogyric crisis dis_3208 8071 C1838348 Oculomaxillofacial dysostosis 8072 C1862472 Oculomelic amyoplasia 8073 C2750325 Oculootodental syndrome 8074 C1327918 Oculootoradial syndrome 8075 C0796059 Oculopalatoskeletal syndrome 8076 C0393546 Oculopharyngeal Spinal Muscular Atrophy 8077 C2931644 O'Donnell Pappas syndrome 8078 C1840322 ODONTOHYPOPHOSPHATASIA (disorder) 8079 C0524730 Odontome 8080 C0796093 Odontoonychodermal dysplasia SMDE03871 257980 C0796093 8081 C1275074 Odonto-onycho-dermal dysplasia 8082 C0853662 Oestrogen deficiency 8083 C3275447 Ogden syndrome SMDE03089 300855 C3275447 8084 C1306122 Oguchi disease 8085 C4551824 Oguchi Disease 1 SMDE01979 258100 C1306122 8086 C3150678 OGUCHI DISEASE 2 SMDE01599 613411 C3150678 8087 C3698541 Ohdo syndrome, Maat-Kievit-Brunner type 8088 C1623209 Okihiro Syndrome 8089 C4310739 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 8090 C0553757 Olfaction Disorders 8091 C1335107 Olfactory Groove Meningioma 8092 C0422853 Olfactory seizure 8093 C0344461 Oligodendroblastoma 8094 C0028945 oligodendroglioma 8095 C4082304 Oligodontia SMDE01142 Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. 313500|150400|610926|617073|604625|616724|106600 99798 K00.0 8096 C1837750 Oligodontia-Colorectal Cancer Syndrome SMDE03155 608615 C1837750 8097 C0028949 Oligomenorrhea dis_3212 8098 C0028960 Oligospermia dis_3214 8099 C0028961 Oliguria dis_3215 8100 C1848745 Oliver-McFarlane syndrome SMDE01216 275400 C1848745 8101 C1857762 Olivopontocerebellar hypoplasia, fetal-onset 8102 C2609071 Olmsted syndrome 8103 C2700553 Omenn Syndrome SMDE03945 Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term). 603554 39041 D81.8 C2700553|C2931884 8104 C2750355 Omodysplasia 2 8105 C1850318 Omodysplasia type 1 8106 C0346255 Oncocytoma, renal 8107 C4014291 OOCYTE MATURATION DEFECT 1 SMDE00769 615774 C4014291 8108 C4225210 OOCYTE MATURATION DEFECT 2 SMDE04746 616780 C4225210 8109 C4540205 OOCYTE MATURATION DEFECT 3 8110 C4540284 OOCYTE MATURATION DEFECT 4 8111 C4049050 Opalescent dentin 8112 C0751401 Ophthalmoparesis 8113 C0029089 Ophthalmoplegia 8114 C4748418 OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 8115 C4551862 Ophthalmoplegia, Progressive Supranuclear 8116 C4551628 Opiate Abuse 8117 C0524662 Opiate Addiction 8118 C0029095 Opioid abuse 8119 C0027412 Opioid-Related Disorders DIS00580 8120 C0029106 Opisthorchiasis 8121 C0277004 Opisthorchis felineus Infection 8122 C0277005 Opisthorchis viverrini Infection 8123 C2936904 Opitz GBBB Syndrome, X-Linked 8124 C0796095 Opitz trigonocephaly syndrome 8125 C1801950 Opitz-G syndrome, type 2 8126 C0002735 Oppenheim's Disease 8127 C0029118 Opportunistic Infections 8128 C0029121 Oppositional Defiant Disorder dis_3227 8129 C0432219 Opsismodysplasia SMDE03551 Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. C537122 258480 2746 Q78.8 C0432219 8130 C0393626 Opsoclonus-Myoclonus Syndrome 8131 C0029125 Optic Atrophies, Hereditary 8132 C0029124 Optic Atrophy dis_3229 8133 C0338508 Optic Atrophy 1 SMDE04510 165500 C0338508 8134 C1852267 OPTIC ATROPHY 1 AND DEAFNESS 8135 C4225227 OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES SMDE00025 616732 C4225227 8136 C4310628 OPTIC ATROPHY 11 8137 C1839576 OPTIC ATROPHY 2 (disorder) 8138 C1854430 OPTIC ATROPHY 4 (disorder) 8139 C1853139 OPTIC ATROPHY 5 (disorder) 8140 C1850281 OPTIC ATROPHY 6 (disorder) 8141 C2751812 OPTIC ATROPHY 7 (disorder) 8142 C4085249 OPTIC ATROPHY 8 8143 C4225384 OPTIC ATROPHY 9 SMDE03309 616289 C4225384 8144 C1833809 OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 8145 C1839565 Optic Atrophy Spastic Paraplegia Syndrome 8146 C3276549 OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY SMDE01100 125250 C3276549 8147 C0917796 Optic Atrophy, Hereditary, Leber 8148 C3810363 Optic atrophy, intellectual disability syndrome 8149 C4225424 OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY SMDE04302 212550 C4225424 8150 C0751402 Optic Disk Disorders 8151 C1833797 Optic Nerve Hypoplasia, Bilateral SMDE02705 165550 C1833798|C1833797 8152 C0029134 Optic Neuritis 8153 C0155305 Optic Neuropathy, Ischemic 8154 C0006849 Oral candidiasis 8155 C4021813 Oral cleft 8156 C0454606 Oral Dyskinesia 8157 C1568868 Oral Mucositis dis_3240 8158 C0029172 Oral Submucous Fibrosis 8159 C0149745 Oral Ulcer dis_3242 8160 C2931889 Oral-facial-digital syndrome, type 2 8161 C0020534 Orbital separation excessive 8162 C0028313 Organic Brain Syndrome, Nonpsychotic 8163 C0029230 Organic Mental Disorders, Psychotic 8164 C0029231 Organic Mental Disorders, Substance-Induced 8165 C0265329 Organoid Nevus Phakomatosis 8166 C0700359 Organophosphate poisoning dis_3246 8167 C0353676 Organophosphorus Poisoning 8168 C3494248 Organothiophosphate Poisoning 8169 C3494247 Organothiophosphonate Poisoning 8170 C0029261 Orgasmic Disorder 8171 C0268542 Ornithine carbamoyltransferase deficiency 8172 C3266076 Orofacial cleft 8173 C1861537 OROFACIAL CLEFT 1 8174 C1866070 OROFACIAL CLEFT 10 SMDE01731 613705 C1866070 8175 C2677434 OROFACIAL CLEFT 11 SMDE02184 600625 C2677434|C1833563 8176 C4225209 OROFACIAL CLEFT 15 SMDE03513 616788 C4225209 8177 C1837210 OROFACIAL CLEFT 5 SMDE04135 608874 C1837210 8178 C1837213 OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 8179 C1851878 OROFACIAL CLEFT 8 8180 C0406726 Orofaciodigital syndrome 3 8181 C0406727 Orofaciodigital syndrome 4 8182 C1868118 Orofaciodigital syndrome 5 8183 C0796102 Orofaciodigital syndrome 9 8184 C1510460 Orofaciodigital Syndrome I SMDE02306 311200 C1510460 8185 C2931426 Orofaciodigital syndrome type1 8186 C2745997 OROFACIODIGITAL SYNDROME VI SMDE00513 277170 C2745997 8187 C4014780 OROFACIODIGITAL SYNDROME XIV SMDE00201 615948 C4014780 8188 C4310701 OROFACIODIGITAL SYNDROME XV 8189 C4539729 OROFACIODIGITAL SYNDROME XVI 8190 C4693640 OROFACIODIGITAL SYNDROME XVII 8191 C4693651 OROFACIODIGITAL SYNDROME XVIII 8192 C0029294 Orofaciodigital Syndromes 8193 C2349952 Oropharyngeal Carcinoma 8194 C0267071 Oropharyngeal Dysphagia 8195 C0029295 Oropharyngeal Neoplasms 8196 C0268128 Orotic aciduria SMDE01924 258900 C0268130|C3278622 8197 C1857587 Orstavik Lindemann Solberg syndrome 8198 C0029342 Orthomyxoviridae Infections 8199 C0751186 Orthostatic Headache 8200 C4746777 ORTHOSTATIC HYPOTENSION 1 8201 C4748569 ORTHOSTATIC HYPOTENSION 2 8202 C1535893 Orthostatic intolerance SMDE00461 604715 C1535893|C0026267|C0027821|C2930833 8203 C1838163 OSLER-RENDU-WEBER SYNDROME 2 8204 C1865343 OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE 8205 C0029401 Osteitis Deformans 8206 C0016063 Osteitis Fibrosa Disseminata 8207 C0029410 Osteoarthritis of hip 8208 C3887876 OSTEOARTHRITIS SUSCEPTIBILITY 1 8209 C3887526 OSTEOARTHRITIS SUSCEPTIBILITY 2 8210 C0409959 Osteoarthritis, Knee 8211 C0029411 Osteoarthropathy, Primary Hypertrophic 8212 C0086743 Osteoarthrosis Deformans 8213 C4225162 OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE SMDE04726 616897 C4225162 8214 C0029422 Osteochondrodysplasias 8215 C1709353 Osteofibrous Dysplasia 8216 C4085248 OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO 8217 C0029434 Osteogenesis Imperfecta 8218 C0268362 Osteogenesis imperfecta type III (disorder) 8219 C0268363 Osteogenesis imperfecta type IV (disorder) 8220 C1853162 Osteogenesis Imperfecta Type VII 8221 C0268358 Osteogenesis imperfecta, dominant perinatal lethal 8222 C1833736 Osteogenesis imperfecta, Levin type 8223 C2931093 Osteogenesis imperfecta, type 5 8224 C1850169 OSTEOGENESIS IMPERFECTA, TYPE IX (disorder) 8225 C3279564 Osteogenesis Imperfecta, Type VI SMDE01274 613982 C3279564 8226 C1970458 Osteogenesis imperfecta, type VIII SMDE00504 610915 C1970458 8227 C3151211 OSTEOGENESIS IMPERFECTA, TYPE X SMDE03725 613848 C3151211 8228 C3151218 OSTEOGENESIS IMPERFECTA, TYPE XI SMDE04955 610968 C3151218 8229 C3151433 OSTEOGENESIS IMPERFECTA, TYPE XII SMDE02131 613849 C3151433 8230 C3553887 OSTEOGENESIS IMPERFECTA, TYPE XIII SMDE03674 614856 C3553887 8231 C3554428 OSTEOGENESIS IMPERFECTA, TYPE XIV SMDE00749 615066 C3554428 8232 C4746956 OSTEOGENESIS IMPERFECTA, TYPE XIX 8233 C3808844 OSTEOGENESIS IMPERFECTA, TYPE XV SMDE04648 615220 C3808844 8234 C4015610 OSTEOGENESIS IMPERFECTA, TYPE XVI 8235 C4225301 OSTEOGENESIS IMPERFECTA, TYPE XVII SMDE00594 616507 C4225301 8236 C4693736 OSTEOGENESIS IMPERFECTA, TYPE XVIII 8237 C0432283 Osteoglophonic dwarfism SMDE02925 Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. C536050 166250 2645 Q87.1 C0432283 8238 C4721411 Osteolysis dis_3266 DIS00588 8239 C2674705 Osteolysis, Hereditary, Of Carpal Bones With Or Without Nephropathy 8240 C0334041 Osteoma cutis dis_3269 8241 C0432268 Osteopathia striata cranial sclerosis 8242 C0029453 Osteopenia dis_3274 8243 C0029454 Osteopetrosis dis_3277 8244 C0432261 Osteopetrosis - intermediate type 8245 C1838258 Osteopetrosis and infantile neuroaxonal dystrophy 8246 C3179239 Osteopetrosis Autosomal Dominant Type 2 8247 C1843330 OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 SMDE02466 607634 C1843330 8248 C4748197 OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 8249 C1850127 Osteopetrosis, Autosomal Recessive 1 SMDE02973 259700 C1850127 8250 C0345407 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 SMDE03795 259730 C0345407 8251 C1969106 Osteopetrosis, Autosomal Recessive 4 SMDE02262 611490 C1969106 8252 C1968603 Osteopetrosis, Autosomal Recessive 5 SMDE01943 259720 C1968603 8253 C1969093 Osteopetrosis, Autosomal Recessive 6 SMDE04484 611497 C1969093 8254 C2676766 Osteopetrosis, Autosomal Recessive 7 SMDE03175 612301 C2676766 8255 C3554478 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 SMDE00744 615085 C3554478 8256 C1850126 Osteopetrosis, mild autosomal recessive form 8257 C0029455 Osteopoikilosis (disorder) 8258 C1833699 Osteopoikilosis, Isolated 8259 C0029456 Osteoporosis dis_3279 SMDE01363 DIS00592 8260 C0432252 Osteoporosis with pseudoglioma 8261 C0001787 Osteoporosis, Age-Related 8262 C0029458 Osteoporosis, Postmenopausal DIS00594 8263 C0029459 Osteoporosis, Senile 8264 C0029463 Osteosarcoma dis_3282 SMDE03442 DIS00596 8265 C0029464 Osteosclerosis 8266 C3554665 OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA 8267 C0344724 Ostium secundum atrial septal defect 8268 C3889261 Other License Status 8269 C0477317 Other primary thrombocytopenia 8270 C0348616 Other restrictive cardiomyopathy 8271 C0348626 Other specified cardiac arrhythmias 8272 C0029882 Otitis Media dis_3285 8273 C0029883 Otitis Media with Effusion 8274 C0265242 Otocephaly 8275 C1833693 Otodental Dysplasia 8276 C1833691 Otofaciocervical Syndrome SMDE03932 Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. 615560|166780 2792 Q87.0 C1833691|C2931416 8277 C3714941 OTOFACIOCERVICAL SYNDROME 1 SMDE01425 166780 C3714941 8278 C3714942 OTOFACIOCERVICAL SYNDROME 2 SMDE03903 615560 C3714942 8279 C0265251 Oto-Palato-digital syndrome type 1 8280 C1844696 OTOPALATODIGITAL SYNDROME, TYPE II SMDE00597 304120 C1844696 8281 C4520892 Otospondylomegaepiphyseal dysplasia SMDE00423 Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. 215150 1427 Q77.7 C1855310 8282 C4310614 OTULIN-related autoinflammatory syndrome 8283 C1862322 Ovalocytosis, Malaysian-Melanesian-Filipino Type 8284 C0948216 Ovarian adenocarcinoma 8285 C2676678 OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 8286 C2675522 OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 8287 C0029925 Ovarian Carcinoma 8288 C3544205 Ovarian clear cell carcinoma 8289 C0029927 Ovarian Cysts 8290 C0029928 Ovarian Diseases 8291 C0342510 Ovarian dysgenesis 8292 C1845294 Ovarian Dysgenesis 2 SMDE01158 300510 C1845294|C1845295 8293 C3280471 OVARIAN DYSGENESIS 3 SMDE03316 614324 C3280471 8294 C4015409 OVARIAN DYSGENESIS 4 SMDE04147 616185 C4015409 8295 C4748084 OVARIAN DYSGENESIS 6 8296 C4748263 OVARIAN DYSGENESIS 7 8297 C4748626 OVARIAN DYSGENESIS 8 8298 C0085215 Ovarian Failure, Premature 8299 C0238324 Ovarian Germ Cell Tumor 8300 C1370419 Ovarian Granulosa Cell Tumor 8301 C0085083 Ovarian Hyperstimulation Syndrome SMDE02834 D016471 608115 64739 N98.1 C3494162|C0085083 8302 C3494162 Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous 8303 C1335167 Ovarian Mucinous Adenocarcinoma 8304 C0919267 ovarian neoplasm dis_3291 8305 C1335177 Ovarian Serous Adenocarcinoma 8306 C1847967 OVARIOLEUKODYSTROPHY 8307 C0878773 Overactive Bladder 8308 C0268849 Overactive Detrusor 8309 C0573196 Overdose of cocaine 8310 C1849265 Overgrowth 8311 C1858556 OVERLAP CONNECTIVE TISSUE DISEASE 8312 C0497406 Overweight dis_3298 8313 C2748895 Ovotesticular Disorders of Sex Development 8314 C1298681 Oxalosis 8315 C0949856 Oxidative Phosphorylation Deficiencies 8316 C1510502 Oxyphilic Adenoma 8317 C0266483 Pachygyria 8318 C0030167 Pachymeningitis 8319 C0265334 Pachyonychia Congenita SMDE02684 Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. D053549 167210|615726|615728|260130|167200 2309 Q84.5 C0265334 8320 C3714948 PACHYONYCHIA CONGENITA 3 SMDE04332 615726 C3714948 8321 C3714949 PACHYONYCHIA CONGENITA 4 SMDE02332 615728 C3714949 8322 C1706595 Pachyonychia Congenita, Jadassohn Lewandowsky Type 8323 C1721007 Pachyonychia Congenita, Type 2 (disorder) 8324 C4085251 PAGET DISEASE OF BONE 2, EARLY-ONSET SMDE03332 602080 C4085251 8325 C4085252 PAGET DISEASE OF BONE 3 SMDE03955 167250 C4085252 8326 C4085250 PAGET DISEASE OF BONE 6 SMDE04067 616833 C4085250 8327 C0030193 Pain dis_3305 DIS00607 8328 C0391976 Pain Disorder 8329 C0752256 Pain Sensation Diminished 8330 C0234230 Pain, Burning 8331 C0458259 Pain, Crushing 8332 C0030200 Pain, Intractable 8333 C0751407 Pain, Migratory 8334 C0030201 Pain, Postoperative 8335 C0458257 Pain, Splitting 8336 C1720830 Painful Bladder Syndrome 8337 C0751412 Painful Paresthesias 8338 C0265220 Pallister-Hall syndrome SMDE00225 146510 C0265220 8339 C0751470 Palmo-Mental Reflex 8340 C3808876 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING SMDE04350 615225 C3808876 8341 C2674504 Palmoplantar Hyperkeratosis And True Hermaphroditism 8342 C3149931 PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL 8343 C3502495 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 8344 C3151468 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 SMDE03685 104100 C3151468 8345 C4015202 PALMOPLANTAR KERATODERMA AND WOOLLY HAIR SMDE00890 616099 C4015202 8346 C3810072 Palmoplantar keratoderma Nagashima type 8347 C1835672 Palmoplantar Keratoderma with Deafness 8348 C3806745 PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES, X-LINKED SMDE03997 300918 C3806745 8349 C1833030 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC SMDE00712 600962 C1833030 8350 C4552049 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 SMDE01297 613000 C2931923 8351 C4225339 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 SMDE02424 616400 C4225339 8352 C3810394 PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE SMDE03284 615735 C3810394 8353 C0022596 Palmoplantar Keratosis 8354 C0264393 Panacinar Emphysema 8355 C0393676 Panayiotopoulos Syndrome 8356 C3891828 PANCREATIC AGENESIS 1 SMDE03308 260370 C3891828 8357 C3888085 PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS 8358 C1850096 Pancreatic Agenesis, Congenital 8359 C1836780 PANCREATIC AND CEREBELLAR AGENESIS SMDE03044 609069 C1836780 8360 C2931037 Pancreatic cancer, adult 8361 C3150546 PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 8362 C3150547 PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 8363 C3280442 PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 8364 C0235974 Pancreatic carcinoma 8365 C2931038 Pancreatic carcinoma, familial 8366 C0086768 Pancreatic Cholera 8367 C0030286 Pancreatic Diseases 8368 C1335302 Pancreatic Ductal Adenocarcinoma 8369 C1328479 Pancreatic Endocrine Carcinoma 8370 C3280527 PANCREATIC LIPASE DEFICIENCY SMDE05020 614338 C3280527|C3280529|C3280528|C3280530|C0268241 8371 C0030297 Pancreatic Neoplasm dis_3329 8372 C0268417 Pancreatic trypsinogen deficiency 8373 C0030305 Pancreatitis dis_3332 DIS00617 8374 C0267941 Pancreatitis, Acute Necrotizing 8375 C0376670 Pancreatitis, Alcoholic 8376 C0149521 Pancreatitis, Chronic 8377 C0030312 Pancytopenia dis_3334 8378 C0242343 Panhypopituitarism SMDE02169 262600|312000 90695 E23.0 C0242343 8379 C0342376 Panhypopituitarism - X-linked 8380 C0086769 Panic Attacks 8381 C0030319 Panic Disorder 8382 C0030328 Panniculitis, Nodular Nonsuppurative 8383 C0205650 Papillary adenoma 8384 C0431128 Papillary craniopharyngioma 8385 C0334578 Papillary ependymoma 8386 C3163622 Papillary Meningioma 8387 C1306837 Papillary Renal Cell Carcinoma dis_3340 8388 C2931899 Papillary renal cell carcinoma, familial 8389 C1336078 Papillary renal cell carcinoma, sporadic 8390 C0238463 Papillary thyroid carcinoma dis_3341 8391 C0030354 Papilloma dis_3343 8392 C0205874 Papilloma, Squamous Cell 8393 C0205875 Papillomatosis 8394 C0030360 Papillon-Lefevre Disease 8395 C1852759 Papillorenal syndrome SMDE03417 120330 C1852759 8396 C0155536 Paracousis 8397 C0030421 Paraganglioma dis_3347 8398 C1847319 PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA SMDE03799 606864 C1847319 8399 C1866552 PARAGANGLIOMAS 2 (disorder) 8400 C1854336 PARAGANGLIOMAS 3 SMDE00854 605373 C1854336 8401 C1861848 PARAGANGLIOMAS 4 SMDE04065 115310 C1861848 8402 C3279992 PARAGANGLIOMAS 5 SMDE02073 614165 C3279992 8403 C0030437 Parakeratosis Variegata 8404 C0522224 Paralysed dis_3350 8405 C0751461 Paralysis, Spinal, Quadriplegic 8406 C0030446 Paralytic Ileus dis_3352 8407 C0221055 Paramyotonia Congenita (disorder) 8408 C1868619 Paramyotonia Congenita Without Cold Paralysis 8409 C1721017 Paraneoplastic Opsoclonus-Myoclonus Ataxia 8410 C0030472 Paraneoplastic Syndromes 8411 C1456784 Paranoia dis_3354 8412 C0349398 Paranoid delusion 8413 C0036349 Paranoid Schizophrenia 8414 C0037771 Paraparesis, Spastic 8415 C0030486 Paraplegia dis_3356 8416 C0242036 Paraplegia, Ataxic 8417 C0278114 Paraplegia, Cerebral 8418 C0452143 Paraplegia, Flaccid 8419 C0278115 Paraplegia, Spinal 8420 C0030491 Parapsoriasis 8421 C0162442 Parapsoriasis en Plaques 8422 C2931434 Paraquat lung 8423 C0751304 Parasagittal Meningioma 8424 C1868616 Parastremmatic dwarfism SMDE02799 168400 C1868616 8425 C0262587 Parathyroid Adenoma dis_3361 8426 C1840403 Parathyroid Adenoma, Familial 8427 C2675664 PARATHYROID ADENOMA, SOMATIC 8428 C0687150 Parathyroid Gland Adenocarcinoma 8429 C0030521 Parathyroid Neoplasms 8430 C0030524 Paratuberculosis 8431 C0030552 Paresis 8432 C0030554 Paresthesia dis_3368 8433 C0235044 Paresthesia, Distal 8434 C1868598 PARIETAL FORAMINA 8435 C1868599 PARIETAL FORAMINA 1 SMDE04783 168500 C1868599|C1868598 8436 C1865044 PARIETAL FORAMINA 2 SMDE01571 609597 C1865044 8437 C1868597 Parietal Foramina With Cleidocranial Dysplasia SMDE01397 168550 C1868597 8438 C1956093 Paris-Trousseau Thrombocytopenia SMDE01190 Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. C538617 617443|188025 851 D69.4 C1956093|C1861178 8439 C0030567 Parkinson Disease DIS00619 8440 C1868595 PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder) 8441 C4083045 PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 8442 C1853202 PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 8443 C2751842 PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE SMDE01559 612953 C2751842 8444 C1850100 PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) 8445 C3280133 PARKINSON DISEASE 17 8446 C3280271 PARKINSON DISEASE 18 8447 C3809811 PARKINSON DISEASE 19A, JUVENILE-ONSET SMDE00257 615528 C3809811|C4310802 8448 C4310802 PARKINSON DISEASE 19B, EARLY-ONSET 8449 C1868675 PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE SMDE04121 600116 C1868675 8450 C3809824 PARKINSON DISEASE 20, EARLY-ONSET SMDE01618 615530 C3809824 8451 C4225238 PARKINSON DISEASE 22, AUTOSOMAL DOMINANT 8452 C4225186 PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET SMDE01311 616840 C4225186 8453 C1854182 PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder) 8454 C3150899 PARKINSON DISEASE 5, AUTOSOMAL DOMINANT 8455 C1853833 Parkinson Disease 6, Autosomal Recessive Early-Onset SMDE00571 605909 C1853833|C1970035 8456 C1853445 PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET SMDE02021 606324 C1853445 8457 C1846862 PARKINSON DISEASE 8 (disorder) 8458 C3160718 PARKINSON DISEASE, LATE-ONSET SMDE04014 168600 C3160718 8459 C1838867 PARKINSON DISEASE, MITOCHONDRIAL (disorder) 8460 C0751414 Parkinson Disease, Secondary Vascular 8461 C0242422 Parkinsonian Disorders dis_3372 8462 C3806722 PARKINSONISM WITH SPASTICITY, X-LINKED SMDE03716 300911 C3806722 8463 C0752101 Parkinsonism, Experimental 8464 C0752105 Parkinsonism, Juvenile 8465 C2751067 Parkinsonism-Dystonia, Infantile SMDE01883 613135 C2751067 8466 C4747621 PARKINSONISM-DYSTONIA, INFANTILE, 1 8467 C4747991 PARKINSONISM-DYSTONIA, INFANTILE, 2 8468 C3149265 Parotid oncocytoma 8469 C0235480 Paroxysmal atrial fibrillation dis_3376 8470 C1851936 Paroxysmal choreoathetosis dis_3378 8471 C1833661 PAROXYSMAL EXTREME PAIN DISORDER SMDE01212 Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation. 167400 46348 C1833661 8472 C0340493 Paroxysmal familial ventricular fibrillation 8473 C1868682 Paroxysmal kinesigenic choreoathetosis 8474 C0751373 Paroxysmal Nerve Pain 8475 C0024790 Paroxysmal nocturnal hemoglobinuria dis_3384 SMDE04304 8476 C3806670 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 SMDE03755 300818 C3806670 8477 C3809369 PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2 SMDE01871 615399 C3809369 8478 C1869117 Paroxysmal nonkinesigenic dyskinesia 8479 C4551506 Paroxysmal Nonkinesigenic Dyskinesia 1 SMDE03600 118800 C1869117 8480 C1863239 Partial adenosine deaminase deficiency 8481 C0431368 Partial agenesis of corpus callosum 8482 C0344735 Partial atrioventricular canal 8483 C1507149 Partial chromosome Y deletion SMDE05102 Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. C536297 400042|415000 1646 Q98.6 C2931163|C1507149 8484 C3661483 Partial Fetal Alcohol Syndrome 8485 C4316789 Partial lipodystrophy 8486 C3807567 PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME SMDE03717 606721 C3807567 8487 C2930745 Partial Monosomy 8488 C1297882 Partial Trisomy 8489 C0796250 PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME SMDE04498 309510 C0796250 8490 C0030625 Passive Cutaneous Anaphylaxis 8491 C0234377 Passive Tremor 8492 C0085397 Pasteurellaceae Infections 8493 C1868581 Patella aplasia, coxa vara, tarsal synostosis 8494 C0013274 Patent ductus arteriosus 8495 C4310753 PATENT DUCTUS ARTERIOSUS 3 8496 C2936170 Patent Ductus Arteriosus Familial 8497 C4749378 Paternal uniparental disomy of chromosome 6 SMDE03298 96191 Q99.8 8498 C0027686 Pathologic Neovascularization 8499 C0013990 Pathological accumulation of air in tissues 8500 C1868569 Patterned dystrophy of retinal pigment epithelium 8501 C4231117 Pectus (in some patients) 8502 C2362324 Pediatric Obesity 8503 C1849193 PEELING SKIN SYNDROME 8504 C4015729 PEELING SKIN SYNDROME 3 SMDE03082 616265 C4015729 8505 C4225407 PEELING SKIN SYNDROME 4 SMDE04196 607936 C4225407 8506 C4310710 PEELING SKIN SYNDROME 5 8507 C4748093 PEELING SKIN SYNDROME 6 8508 C1853354 Peeling skin syndrome, acral type 8509 C4225381 PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS SMDE00633 616295 C4225381 8510 C1850055 PEHO syndrome SMDE02331 PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. C536317 260565 2836 G31.8 C1850055|C1850056|C0796122 8511 C0030779 Pelger-Huet Anomaly SMDE01660 169400 C0030779 8512 C4747922 PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 8513 C0030781 Peliosis Hepatis 8514 C0205711 Pelizaeus-Merzbacher Disease SMDE04396 312080 C0205711 8515 C0751915 Pelizaeus-Merzbacher Disease, Atypical 8516 C0751917 Pelizaeus-Merzbacher Disease, Transitional 8517 C1850053 Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 8518 C1850040 Pelviscapular dysplasia SMDE04609 Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. C535550 260660 93333 Q87.5 C1850040 8519 C0030804 Pemphigoid, Benign Mucous Membrane 8520 C0030807 Pemphigus 8521 C0263313 Pemphigus Foliaceus 8522 C0030809 Pemphigus Vulgaris 8523 C2931277 Pena Shokeir syndrome Type 2 8524 C1276035 Pena-Shokeir syndrome type I 8525 C0271829 Pendred's syndrome 8526 C0271388 Pendular Nystagmus dis_3404 8527 C0030846 Penile Diseases dis_3405 8528 C0030849 Penile Neoplasms 8529 C0559483 Pentalogy of Cantrell 8530 C0268162 Pentosuria 8531 C1866182 Penttinen-Aula syndrome 8532 C0014869 Peptic Esophagitis 8533 C0030920 Peptic Ulcer dis_3406 DIS00625 8534 C0030922 Peptic Ulcer Hemorrhage 8535 C1150891 peptidylamidoglycolate lyase activity 8536 C0751359 Percussion Myotonia dis_3409 8537 C0031030 Periapical Periodontitis 8538 C2931895 Pericardial constriction with growth failure 8539 C0031039 Pericardial effusion dis_3412 8540 C0031046 Pericarditis 8541 C0031051 Pericementitis 8542 C0701826 Perinatal death 8543 C0270192 Perinatal Subarachnoid Hemorrhage 8544 C0751691 Perineurioma 8545 C0271382 Periodic Alternating Nystagmus 8546 C3553418 PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT SMDE01743 614674 C3553418 8547 C1279412 periodic paralysis (finding) 8548 C4751573 Periodic paralysis with later-onset distal motor neuropathy 8549 C4751572 Periodic paralysis with transient compartment-like syndrome 8550 C0585274 Periodic syndrome 8551 C0031090 Periodontal Diseases 8552 C0031099 Periodontitis dis_3419 DIS00627 8553 C0524686 Periodontitis, Acute Nonsuppurative 8554 C4551681 Periodontitis, Aggressive, 1 SMDE00787 170650 C0031106 8555 C0600298 Periodontosis 8556 C0751187 Periorbital Headache 8557 C1704436 Peripheral Arterial Diseases 8558 C0750944 Peripheral Autonomic Nervous System Diseases 8559 C0270922 Peripheral demyelinating neuropathy 8560 C1836727 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease SMDE03444 609136 C1836727 8561 C4721502 Peripheral dysostosis 8562 C0751689 Peripheral Nerve Sheath Neoplasm 8563 C4721453 Peripheral Nervous System Diseases DIS00629 8564 C4509933 Peripheral neuropathy with sensorineural hearing impairment syndrome 8565 C4748283 PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 8566 C3280556 PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS SMDE03259 614369 C3280556 8567 C4273673 Peripheral resistance to thyroid hormone 8568 C0079774 Peripheral T-Cell Lymphoma 8569 C0085096 Peripheral Vascular Diseases 8570 C1845668 Perisylvian syndrome 8571 C0521607 Peritoneal Fibrosis 8572 C0031149 Peritoneal Neoplasms 8573 C2717859 Peritoneal Sclerosis 8574 C0031154 Peritonitis dis_3437 8575 C1300127 Perivascular Epithelioid Cell Neoplasms 8576 C1849173 Periventricular gray matter heterotopia 8577 C1848213 Periventricular Heterotopia, X-Linked 8578 C1868720 Periventricular Nodular Heterotopia 8579 C3809872 PERIVENTRICULAR NODULAR HETEROTOPIA 6 SMDE01515 615544 C3809872 8580 C4310669 PERIVENTRICULAR NODULAR HETEROTOPIA 7 8581 C4748602 PERIVENTRICULAR NODULAR HETEROTOPIA 8 8582 C0521754 Permanent Nystagmus 8583 C2931280 Perniola Krajewska Carnevale syndrome 8584 C1849678 Peroxisomal ACYL-COA oxidase deficiency SMDE02371 Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. C536662 264470 2971 E71.3 C1849678|C0342871 8585 C0282528 Peroxisomal Disorders 8586 C0751708 Peroxisomal Dysfunction, General 8587 C0751709 Peroxisomal Dysfunction, Multiple 8588 C0751710 Peroxisomal Dysfunction, Single 8589 C4015344 PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER SMDE03547 616154 C4015344 8590 C3553999 PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) SMDE04334 614882 C3553999|C1864171|C1864172 8591 C4479254 PEROXISOME BIOGENESIS DISORDER 10B 8592 C3554000 PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER) SMDE04146 614883 C3554000|C1866260|C1866259 8593 C3554001 PEROXISOME BIOGENESIS DISORDER 11B SMDE01354 614885 C3554001 8594 C3554002 PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) SMDE03591 614886 C1838299|C3554002|C1838300 8595 C3554004 PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) SMDE03219 614887 C3554004|C1866257 8596 C3554055 PEROXISOME BIOGENESIS DISORDER 14B SMDE04274 614920 C3554055 8597 C4721541 PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) SMDE04712 214100 C1865803|C1865804|C0043459 8598 C3550273 PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) SMDE00111 214110 C3550274|C3550273 8599 C3550234 PEROXISOME BIOGENESIS DISORDER 2B SMDE00583 202370 C3550234 8600 C3553929 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) SMDE02388 614859 C3553929|C1866340 8601 C3550693 PEROXISOME BIOGENESIS DISORDER 3B SMDE03778 266510 C3550693 8602 C3553936 PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) SMDE01013 614862 C1832230|C1832231|C1832232|C3553936 8603 C3553937 PEROXISOME BIOGENESIS DISORDER 4B SMDE02735 614863 C3553937 8604 C3553940 PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) SMDE02012 614866 C3553940|C3553942|C3539010|C3553941 8605 C3542026 PEROXISOME BIOGENESIS DISORDER 5B SMDE01320 614867 C3542026 8606 C3553947 PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) SMDE04235 614870 C1864399|C3553947 8607 C3553948 PEROXISOME BIOGENESIS DISORDER 6B SMDE05144 614871 C3553948 8608 C3888385 PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER) SMDE04061 614872 C3553950|C3539168|C3888385 8609 C3553951 PEROXISOME BIOGENESIS DISORDER 7B SMDE03216 614873 C3553951 8610 C3553959 PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) SMDE04883 614876 C1863999|C1863998|C3553959 8611 C3553960 PEROXISOME BIOGENESIS DISORDER 8B SMDE01280 614877 C3553960 8612 C1863999 Peroxisome Biogenesis Disorder, Complementation Group D 8613 C1832200 Peroxisome biogenesis disorders dis_3442 8614 C1519020 Peroxisome Proliferation 8615 C4551721 PERRAULT SYNDROME 1 SMDE02310 233400 C0685838 8616 C3554105 PERRAULT SYNDROME 2 SMDE03224 614926 C3554105 8617 C3808414 PERRAULT SYNDROME 3 SMDE00326 614129 C3808414 8618 C3809105 PERRAULT SYNDROME 4 SMDE00565 615300 C3809105 8619 C4015307 PERRAULT SYNDROME 5 SMDE03304 616138 C4015307 8620 C4479656 PERRAULT SYNDROME 6 8621 C1868594 Perry Syndrome SMDE03919 Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. 168605 178509 C1868594 8622 C0282550 Persian Gulf Syndrome 8623 C2585653 Persistent atrial fibrillation 8624 C0266225 Persistent cloaca 8625 C0031190 Persistent Fetal Circulation Syndrome 8626 C0266568 Persistent Hyperplastic Primary Vitreous 8627 C1969783 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 8628 C1849930 Persistent Mullerian duct syndrome 8629 C0031192 Persistent Ostium Primum 8630 C1847973 Persistent Polyclonal B-Cell Lymphocytosis SMDE02725 606445 C1847973 8631 C0234370 Persistent Tremor 8632 C0031212 Personality Disorders 8633 C0524528 Pervasive Development Disorder 8634 C0270823 Petit mal status 8635 C0751500 Petrous Sinus Thrombophlebitis 8636 C0751502 Petrous Sinus Thrombosis 8637 C2931653 Petty Laxova Wiedemann syndrome 8638 C0031269 Peutz-Jeghers Syndrome SMDE01314 DIS00633 Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. D010580 175200 2869 Q85.8 C0031269 8639 C0030848 Peyronie Disease 8640 C0086795 Pfaundler-Hurler Syndrome 8641 C0220658 Pfeiffer Syndrome SMDE01245 101600 C0220658 8642 C2931888 Pfeiffer type acrocephalosyndactyly 8643 C2931658 Phacomatosis pigmentokeratotica 8644 C0031306 Phagocyte Bactericidal Dysfunction 8645 C3838883 Phakomatosis cesioflammea 8646 C3839296 Phakomatosis cesiomarmorata 8647 C0031347 Pharyngeal Neoplasms 8648 C0031391 Phencyclidine Abuse 8649 C0236742 Phencyclidine-Related Disorders 8650 C0268465 Phenylketonuria II 8651 C0085547 Phenylketonuria, Maternal 8652 C0031485 Phenylketonurias 8653 C0031511 Pheochromocytoma dis_3454 SMDE00871 DIS00635 8654 C1257877 Pheochromocytoma, Extra-Adrenal 8655 C0031557 Phlegmon 8656 C0349231 Phobic anxiety disorder 8657 C2713392 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency 8658 C2931278 Phosphoenolpyruvate carboxykinase 2 deficiency 8659 C0268194 Phosphoenolpyruvate carboxykinase deficiency 8660 C1866174 Phosphoglycerate Dehydrogenase Deficiency SMDE01641 601815 C1866174 8661 C1970848 Phosphoglycerate Kinase 1 Deficiency SMDE03911 300653 C1970848 8662 C3554344 Phosphohydroxylysinuria 8663 C4016672 PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF 8664 C1970827 Phosphoribosylpyrophosphate Synthetase Superactivity SMDE03994 300661 C1970827 8665 C1970253 Phosphoserine Aminotransferase Deficiency SMDE00708 610992 C1970253 8666 C0085636 Photophobia dis_3461 8667 C1866504 Photosensitive Trichothiodystrophy 8668 C0010701 Phyllodes Tumor 8669 C0237873 Physiological Sexual Disorders 8670 C0236642 Pick Disease of the Brain 8671 C0080024 Piebaldism dis_3463 SMDE01189 8672 C0031900 Pierre Robin Syndrome 8673 C1848488 Pierre Robin syndrome with fetal chondrodysplasia 8674 C1836876 Pierson syndrome SMDE02423 609049 C1836876 8675 C1845050 PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 8676 C0031911 Pigmentation 8677 C0549567 Pigmentation Disorders 8678 C1368275 Pigmented Basal Cell Carcinoma 8679 C0334464 Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor) 8680 C0263579 Pigmented hairy epidermal nevus 8681 C1864846 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (disorder) 8682 C1864851 Pigmented Nodular Adrenocortical Disease, Primary, 2 SMDE02728 610475 C1864851 8683 C3280094 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3 SMDE01378 614190 C3280094 8684 C4014425 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 SMDE03972 615830 C4016748|C4014425 8685 C1868310 Pigmented Paravenous Chorioretinal Atrophy SMDE00097 172870 C1868310 8686 C4540131 PILAROWSKI-BJORNSSON SYNDROME 8687 C1849811 Pili torti developmental delay neurological abnormalities 8688 C0266006 Pili torti-deafness syndrome 8689 C0751564 Pill Rolling Tremor 8690 C0334583 Pilocytic Astrocytoma 8691 C0206711 Pilomatrixoma dis_3467 SMDE00065 8692 C1519086 Pilomyxoid astrocytoma 8693 C0752257 Pinprick Sensation Diminished 8694 C1970431 PITT-HOPKINS SYNDROME SMDE03906 610954 C1970431 8695 C2750246 Pitt-Hopkins-Like Syndrome 1 8696 C3280479 PITT-HOPKINS-LIKE SYNDROME 2 SMDE00074 614325 C3280479 8697 C0796117 Pitt-Rogers-Danks Syndrome 8698 C0032000 Pituitary Adenoma dis_3470 8699 C4538355 PITUITARY ADENOMA 1, MULTIPLE TYPES 8700 C4012409 PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING 8701 C4539685 PITUITARY ADENOMA 5, MULTIPLE TYPES 8702 C1863340 PITUITARY ADENOMA PREDISPOSITION (disorder) 8703 C1835819 PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 8704 C0032001 Pituitary Apoplexy 8705 C0346300 Pituitary carcinoma 8706 C0032002 Pituitary Diseases 8707 C0013338 Pituitary dwarfism dis_3471 8708 C0342573 PITUITARY DWARFISM I 8709 C0878683 Pituitary Dwarfism Type 3 8710 C0857439 Pituitary hormone deficiency 8711 C2751608 Pituitary Hormone Deficiency, Combined, 1 SMDE03190 613038 C2751608 8712 C3489787 Pituitary Hormone Deficiency, Combined, 3 SMDE01428 221750 C3489787 8713 C2678408 PITUITARY HORMONE DEFICIENCY, COMBINED, 4 SMDE04559 262700 C2678408 8714 C3151440 PITUITARY HORMONE DEFICIENCY, COMBINED, 6 SMDE03031 613986 C3151440 8715 C0032019 Pituitary Neoplasms dis_3474 8716 C4053775 Pituitary stalk interruption syndrome SMDE01564 Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. 95496 E23.6 8717 C0221406 Pituitary-dependent Cushing's disease 8718 C0032027 Pityriasis Rubra Pilaris SMDE03978 Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists. D010916 173200 2897 L44.0 C0032027 8719 C0032045 Placenta Disorders 8720 C2720163 Placental Steroid Sulfatase Deficiency 8721 C0265529 Plagiocephaly 8722 C1450010 Plagiocephaly, Nonsynostotic 8723 C1865644 Plantar Lipomatosis, Unusual Facies, and Developmental Delay 8724 C2936349 Plaque, Amyloid 8725 C2936350 Plaque, Atherosclerotic dis_3478 8726 C0085269 Plasma Cell Granuloma, Pulmonary 8727 C2750067 Plasminogen Activator Inhibitor-1 Deficiency SMDE02697 613329 C2750067 8728 C1968804 Plasminogen Deficiency, Type I SMDE00870 217090 C1968804|C1274789|C4225445 8729 C4540232 PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE 8730 C2717750 Platelet alpha-Granule Deficiency 8731 C1832388 Platelet Disorder, Familial, with Associated Myeloid Malignancy SMDE03220 601399 C1832388 8732 C1842090 Platelet Glycoprotein IV Deficiency SMDE04565 608404 C1842090 8733 C0032197 Platelet Storage Pool Deficiency 8734 C3280315 Platelet-Activating Factor Acetylhydrolase Deficiency dis_3481 SMDE04742 8735 C1835437 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type SMDE04206 151210 C1835437 8736 C4722480 PLCG2-associated antibody deficiency and immune dysregulation 8737 C0162669 Pleoconial Myopathies 8738 C0151857 Pleocytosis 8739 C0205823 Pleomorphic Lipoma 8740 C0032226 Pleural Diseases 8741 C0032227 Pleural effusion disorder 8742 C0032229 Pleural Neoplasms 8743 C0032230 Pleural Rub 8744 C0032231 Pleurisy 8745 C1167732 Pleuropericarditis 8746 C1266144 Pleuropulmonary blastoma dis_3488 SMDE01214 8747 C0206728 Plexiform Neurofibroma 8748 C0032269 Pneumococcal Infections 8749 C0032273 Pneumoconiosis 8750 C0032285 Pneumonia dis_3490 8751 C0206061 Pneumonia, Interstitial 8752 C0032310 Pneumonia, Viral 8753 C3714636 Pneumonitis 8754 C0032326 Pneumothorax dis_3491 8755 C1868193 PNEUMOTHORAX, PRIMARY SPONTANEOUS SMDE00874 173600 C1868193 8756 C0406557 Poikiloderma of Kindler 8757 C1858723 Poikiloderma with Neutropenia SMDE04421 604173 C1858723 8758 C3810325 POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS SMDE03453 615704 C3810325 8759 C1844505 Pointed chin 8760 C0274576 Poisoning by fluorouracil 8761 C1456687 Polio and Post-Polio Syndrome 8762 C0032371 Poliomyelitis 8763 C0751446 Poliomyelitis, Nonpoliovirus 8764 C0751447 Poliomyelitis, Preparalytic 8765 C0031036 Polyarteritis Nodosa 8766 C3887654 POLYARTERITIS NODOSA, CHILDHOOD-ONSET SMDE01857 615688 C3887654 8767 C0162296 Polyarthralgia 8768 C0162323 Polyarthritis dis_3498 8769 C4552091 Polyarthritis, Juvenile, Rheumatoid Factor Negative 8770 C4704862 Polyarthritis, Juvenile, Rheumatoid Factor Positive 8771 C1567435 Polycystic Kidney - body part 8772 C3149841 POLYCYSTIC KIDNEY DISEASE 1 SMDE03644 173900 C3149841|C0085413|C1868148 8773 C3887964 POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 8774 C4539903 POLYCYSTIC KIDNEY DISEASE 5 8775 C4748044 POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE 8776 C1849762 Polycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia 8777 C2751306 Polycystic kidney disease, type 2 8778 C0022680 Polycystic Kidney Diseases 8779 C0085413 Polycystic Kidney, Autosomal Dominant dis_3503 8780 C0887850 Polycystic Kidney, Type 1 Autosomal Dominant Disease 8781 C1838327 Polycystic kidneys, severe infantile with tuberous sclerosis 8782 C1857316 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY SMDE03237 221770 C1857316 8783 C4721893 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 8784 C4748657 POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 8785 C0158683 Polycystic liver disease dis_3505 8786 C4310769 POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS 8787 C4693472 POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS 8788 C4693479 POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS 8789 C0032460 Polycystic Ovary Syndrome dis_3507 8790 C0032461 Polycythemia dis_3508 8791 C0032463 Polycythemia Vera dis_3509 SMDE01615 8792 C0152427 Polydactyly 8793 C1395852 Polydactyly preaxial type 1 8794 C0220697 POLYDACTYLY, POSTAXIAL 8795 C4282400 Polydactyly, Postaxial, Type A1 SMDE02406 174200 C3887487|C0220697|C4282400|C1868120 8796 C3808889 POLYDACTYLY, POSTAXIAL, TYPE A6 SMDE04354 615226 C3808889 8797 C4539976 POLYDACTYLY, POSTAXIAL, TYPE A7 8798 C4748277 POLYDACTYLY, POSTAXIAL, TYPE A8 8799 C1868111 Polydactyly, preaxial 4 8800 C1868114 POLYDACTYLY, PREAXIAL II (disorder) 8801 C0085602 Polydipsia dis_3510 8802 C4015261 POLYENDOCRINE-POLYNEUROPATHY SYNDROME SMDE04705 616113 C4015261 8803 C0085409 Polyendocrinopathies, Autoimmune 8804 C1855868 Polyglandular Deficiency Syndrome, Persian-Jewish Type 8805 C0085859 Polyglandular Type I Autoimmune Syndrome 8806 C1535942 Polyglandular Type III Autoimmune Syndrome 8807 C1849722 Polyglucosan Body Disease, Adult Form 8808 C4014605 POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY SMDE02538 615895 C4014605 8809 C4015452 POLYGLUCOSAN BODY MYOPATHY 2 SMDE00725 616199 C4015452 8810 C4751567 Polyglucosan body myopathy type 1 8811 C0020224 Polyhydramnios 8812 C1970203 Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy SMDE00121 611087 C1970203 8813 C0266464 Polymicrogyria 8814 C2750798 Polymicrogyria With Optic Nerve Hypoplasia 8815 C1847352 POLYMICROGYRIA, BILATERAL FRONTOPARIETAL SMDE01753 606854 C1847352 8816 C2675191 Polymicrogyria, Bilateral Occipital 8817 C3810405 POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE SMDE03838 615752 C3810405 8818 C4013648 POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL SMDE01349 612691 C4013648 8819 C4225295 POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS SMDE04897 616531 C4225295 8820 C0339284 Polymorphous corneal dystrophy 8821 C0751355 Polymyoclonus 8822 C0085655 Polymyositis 8823 C0263984 Polymyositis Ossificans 8824 C0554591 Polymyositis, Idiopathic 8825 C4317124 Polynesian Bronchiectasis 8826 C0152025 Polyneuropathy 8827 C0393851 Polyneuropathy, Critical Illness 8828 C0751448 Polyneuropathy, Familial 8829 C2675204 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract SMDE03929 612674 C2675204 8830 C0271683 Polyneuropathy, Motor 8831 C0949804 Polyomavirus Infections 8832 C0016065 Polyostotic fibrous dysplasia dis_3512 8833 C0032578 Polyploidy 8834 C1832587 POLYPOSIS SYNDROME, HEREDITARY MIXED, 1 8835 C1864730 Polyposis Syndrome, Hereditary Mixed, 2 SMDE02678 610069 C1864730 8836 C2713442 Polyposis, Adenomatous Intestinal 8837 C0032584 polyps 8838 C0265357 Polysplenia Syndrome 8839 C0265553 Polysyndactyly 8840 C0032617 Polyuria dis_3514 8841 C4509918 Polyvalvular heart disease syndrome 8842 C3888925 Pompe's disease adult onset 8843 C0343528 Pontiac Fever 8844 C0751889 Pontine Tumors 8845 C1843504 Pontocerebellar Hypoplasia Type 1 8846 C2932714 Pontocerebellar Hypoplasia Type 2 8847 C1848526 Pontocerebellar Hypoplasia Type 2A 8848 C2676466 Pontocerebellar Hypoplasia Type 2B 8849 C2676465 Pontocerebellar Hypoplasia Type 2C 8850 C1842687 PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) 8851 C1856974 PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 8852 C1969084 Pontocerebellar Hypoplasia Type 6 8853 C4014347 PONTOCEREBELLAR HYPOPLASIA, TYPE 10 SMDE04073 615803 C4014347 8854 C4540164 PONTOCEREBELLAR HYPOPLASIA, TYPE 11 8855 C4748873 PONTOCEREBELLAR HYPOPLASIA, TYPE 12 8856 C3553449 PONTOCEREBELLAR HYPOPLASIA, TYPE 1B SMDE02747 614678 C3553449 8857 C4015160 PONTOCEREBELLAR HYPOPLASIA, TYPE 1C SMDE01084 616081 C4015160 8858 C4748058 PONTOCEREBELLAR HYPOPLASIA, TYPE 1D 8859 C3151140 PONTOCEREBELLAR HYPOPLASIA, TYPE 2D SMDE00489 613811 C3151140 8860 C4014488 PONTOCEREBELLAR HYPOPLASIA, TYPE 2E SMDE00064 615851 C4014488 8861 C4310757 PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 8862 C4014354 PONTOCEREBELLAR HYPOPLASIA, TYPE 9 SMDE00754 615809 C4014354 8863 C0265259 Popliteal pterygium syndrome SMDE02436 119500 C0265259 8864 C1849718 POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE SMDE05044 263650 C1849718 8865 C4082173 Porencephaly 8866 C3280970 PORENCEPHALY 2 SMDE01412 614483 C3280970 8867 C1867983 PORENCEPHALY, FAMILIAL 8868 C4551998 Porencephaly, Type 1, Autosomal Dominant 8869 C0162839 Porokeratosis dis_3526 8870 C3553549 POROKERATOSIS 7, MULTIPLE TYPES SMDE00983 614714 C3553549 8871 C4015128 POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE SMDE02651 616063 C4015128 8872 C4225262 POROKERATOSIS 9, MULTIPLE TYPES 8873 C0949506 Porokeratosis of Mibelli SMDE01187 Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. 175900|175800 735 Q82.8 C0949506 8874 C0265970 Porokeratosis, Disseminated Superficial Actinic 8875 C1867981 POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 8876 C0302319 Porokeratosis, Linear 8877 C0473579 Porokeratotic eccrine ostial and dermal duct nevus 8878 C0268328 Porphobilinogen synthase deficiency 8879 C0162566 Porphyria Cutanea Tarda SMDE04283 176100 C0268323|C0342861|C0162566|C0162569 8880 C0162530 Porphyria, Erythropoietic 8881 C2936913 Porphyria, South African type 8882 C0162533 Porphyrias, Hepatic 8883 C0020541 Portal Hypertension dis_3530 8884 C4310735 PORTAL HYPERTENSION, NONCIRRHOTIC 8885 C0235752 Port-Wine Stain 8886 C1274879 Port-wine stain with oculocutaneous melanosis 8887 C0752258 Position Sense Disorders 8888 C3887487 Postaxial polydactyly type A 8889 C1868120 POSTAXIAL POLYDACTYLY, TYPE B 8890 C0887799 Posterior Choroidal Artery Infarction 8891 C0472381 Posterior Circulation Transient Ischemic Attack 8892 C1836916 POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA SMDE01201 609033 C1836916 8893 C0751893 Posterior Fossa Hemorrhage 8894 C1565950 Posterior Fossa Meningioma 8895 C0751712 Posterior Ischemic Optic Neuropathy 8896 C0878576 Posterior Leukoencephalopathy Syndrome 8897 C0751438 Posterior pituitary disease 8898 C1850191 Posterior polar cataract dis_3539 8899 C3160858 Posterior reversible encephalopathy syndrome 8900 C0858617 Posterior subcapsular cataract dis_3540 8901 C0032768 Postherpetic neuralgia dis_3543 DIS00645 8902 C1847514 Postnatal microcephaly 8903 C0032787 Postoperative Complications 8904 C4042763 Postoperative Residual Curarization 8905 C0032796 Postpartum Amenorrhea 8906 C0398648 Posttransfusion purpura 8907 C0477432 Post-Traumatic Hydrocephalus 8908 C0751406 Post-Traumatic Osteoporosis 8909 C3698507 Post-traumatic Porencephaly 8910 C2931826 Potassium aggravated myotonia 8911 C2931246 Potocki-Lupski syndrome 8912 C3713418 Ppm-X Syndrome 8913 C0032897 Prader-Willi Syndrome SMDE03577 176270 C0032897|C1867858|C1867859 8914 C3809877 Prader-Willi-like syndrome 8915 C1867801 Preaxial deficiency, postaxial polydactyly and hypospadias 8916 C0032927 Precancerous Conditions dis_3555 8917 C0034013 Precocious Puberty 8918 C3805879 PRECOCIOUS PUBERTY, CENTRAL, 1 SMDE00740 176400 C3805879 8919 C3809199 PRECOCIOUS PUBERTY, CENTRAL, 2 SMDE04157 615346 C3809199 8920 C3203733 Precordial Catch Syndrome 8921 C1292769 Precursor B-cell lymphoblastic leukemia 8922 C0023485 Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 8923 C1961102 Precursor Cell Lymphoblastic Leukemia Lymphoma 8924 C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 8925 C0032914 Pre-Eclampsia 8926 C1836255 Preeclampsia Eclampsia 4 8927 C3281288 PREECLAMPSIA/ECLAMPSIA 5 SMDE00442 614595 C3281288 8928 C0852036 Pregnancy associated hypertension 8929 C0032962 Pregnancy Complications 8930 C0032963 Pregnancy Complications, Cardiovascular 8931 C3280670 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1 8932 C3280672 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2 8933 C3280674 PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3 8934 C0750908 Pre-Ictal Amnesia 8935 C0750910 Pre-Ictal Memory Loss 8936 C4225197 PREIMPLANTATION EMBRYONIC LETHALITY 1 8937 C4310659 PREIMPLANTATION EMBRYONIC LETHALITY 2 8938 C0272339 Prekallikrein deficiency SMDE02797 612423 C0272339 8939 C0011052 Prelingual Deafness 8940 C0231341 Premature aging syndrome 8941 C0151526 Premature Birth 8942 C1864389 PREMATURE CHROMATID SEPARATION TRAIT 8943 C0025322 Premature Menopause 8944 C0022876 Premature Obstetric Labor 8945 C4552079 Premature Ovarian Failure 1 SMDE04319 311360 C0085215|C3494522 8946 C4225402 PREMATURE OVARIAN FAILURE 10 SMDE02531 612885 C2752067|C4225402 8947 C4310783 PREMATURE OVARIAN FAILURE 11 SMDE02835 616946 C4310783 8948 C4310782 PREMATURE OVARIAN FAILURE 12 SMDE03916 616947 C4310782 8949 C4479510 PREMATURE OVARIAN FAILURE 13 8950 C4693941 PREMATURE OVARIAN FAILURE 14 8951 C1845293 Premature Ovarian Failure 2a SMDE05061 300511 C1845293 8952 C1845105 Premature Ovarian Failure 2b SMDE01634 300604 C1845105 8953 C1837008 PREMATURE OVARIAN FAILURE 3 (disorder) 8954 C1845295 Premature Ovarian Failure 4 8955 C1969060 Premature Ovarian Failure 5 SMDE03406 611548 C1969060 8956 C2676742 Premature Ovarian Failure 6 SMDE01694 612310 C2676742 8957 C2751825 PREMATURE OVARIAN FAILURE 7 (disorder) 8958 C3810367 PREMATURE OVARIAN FAILURE 8 SMDE04929 615723 C3810367 8959 C3810376 PREMATURE OVARIAN FAILURE 9 SMDE04085 615724 C3810376 8960 C0151636 Premature ventricular contractions 8961 C0678807 prenatal alcohol exposure 8962 C0033054 Prenatal Exposure Delayed Effects 8963 C4316881 Prescription Drug Abuse 8964 C0011265 Presenile dementia 8965 C1850000 Presentey Anomaly 8966 C0729264 Preterm premature rupture of membranes (disorder) 8967 C2676254 Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 8968 C3809609 PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES SMDE02402 615474 C3809609 8969 C0008312 Primary biliary cirrhosis dis_3584 DIS00653 8970 C4755276 Primary CD59 deficiency 8971 C0280803 Primary central nervous system lymphoma 8972 C4551720 Primary Ciliary Dyskinesia SMDE03699 Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms). 242670|614874|612518|215520|617092|215518|615451|615482 244 8973 C1533041 Primary congenital glaucoma dis_3585 8974 C1301362 Primary Cutaneous Anaplastic Large Cell Lymphoma 8975 C0014805 Primary Erythermalgia 8976 C4324314 Primary familial brain calcification 8977 C0020501 Primary Hyperoxaluria 8978 C0268165 Primary hyperoxaluria type 2 SMDE01600 Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. 260000 93599 E74.8 C0268165 8979 C3150878 Primary hyperoxaluria type III 8980 C0268164 Primary hyperoxaluria, type I 8981 C3714618 Primary Hyperthyroidism 8982 C0948896 Primary hypogonadism 8983 C0268448 Primary hypomagnesemia (disorder) 8984 C4316995 Primary Hypothyroidism dis_3588 8985 C0398686 Primary immune deficiency disorder 8986 C4305256 Primary immunodeficiency syndrome due to p14 deficiency SMDE00107 Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. 610798 90023 D82.8 C1835829 8987 C0033139 Primary Insomnia 8988 C0267372 Primary intestinal lymphangiectasia 8989 C1853396 Primary lateral sclerosis juvenile 8990 C1968845 Primary Lateral Sclerosis, Adult, 1 8991 C0750979 Primary malignant neoplasm of brain 8992 C0431350 Primary microcephaly 8993 C0001815 Primary Myelofibrosis 8994 C1514428 Primary peritoneal carcinoma dis_3589 SMDE05056 8995 C1449646 Primary Peritonitis 8996 C4304832 Primary pigmented nodular adrenocortical disease SMDE03784 Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). 610489|614190|615830|610475 189439 E24.8 8997 C0751706 Primary Progressive Nonfluent Aphasia 8998 C0456891 Primary pulmonary hypoplasia 8999 C0566602 Primary sclerosing cholangitis SMDE01914 Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. C536419 602114|613806 171 K83.0 C0566602 9000 C0751590 Primary Supratentorial Neoplasms 9001 C0796121 Primrose syndrome SMDE03815 259050 C0796121 9002 C0162534 Prion Diseases DIS00655 9003 C4751505 PRKAR1B-related neurodegenerative dementia with intermediate filaments 9004 C3553450 Profound global developmental delay dis_3592 9005 C0020796 Profound Mental Retardation 9006 C0033300 Progeria 9007 C1857710 Progeroid facial appearance dis_3597 9008 C2676780 Progeroid Syndrome, Congenital, Petty Type 9009 C1849699 Progesterone Resistance SMDE04467 264080 C1849699 9010 C0030442 Progressive bulbar palsy 9011 C0393525 Progressive cerebellar ataxia dis_3601 9012 C0271092 Progressive cone dystrophy (without rod involvement) 9013 C1850056 Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome 9014 C1834846 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 9015 C1836460 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 9016 C1836439 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 9017 C1864668 Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 9018 C2751319 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 9019 C3554599 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 6 9020 C1850303 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 9021 C4225153 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 SMDE02295 258450 C4225153 9022 C4225312 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 SMDE01016 616479 C4225312 9023 C4310734 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3 9024 C4310733 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4 9025 C4748184 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 9026 C1970298 Progressive Familial Heart Block, Type Ib SMDE01532 604559 C1970298 9027 C1844678 Progressive hearing loss stapes fixation 9028 C0268312 Progressive intrahepatic cholestasis (disorder) 9029 C1850456 Progressive microcephaly 9030 C0917981 Progressive Muscular Atrophy 9031 C4706413 Progressive myoclonic epilepsy with dystonia 9032 C3150973 Progressive polyneuropathy with bilateral striatal necrosis 9033 C0751334 Progressive Proximal Myelopathic Muscular Atrophy 9034 C0432215 Progressive pseudorheumatoid dysplasia 9035 C1843156 Progressive sensorineural hearing impairment dis_3627 9036 C1855483 Progressive spastic paraplegia dis_3629 9037 C1859520 Progressive spasticity dis_3631 9038 C0038868 Progressive supranuclear palsy 9039 C0271586 Prolactin Deficiency, Isolated 9040 C0033375 Prolactinoma dis_3637 SMDE04081 9041 C0242852 Proliferative vitreoretinopathy dis_3641 DIS00658 9042 C0268529 Proline dehydrogenase deficiency 9043 C1842073 Prolonged Electroretinal Response Suppression SMDE02263 608415 C1842073 9044 C1857949 Prominent metopic ridge 9045 C4231120 Prominent nasal root on profile 9046 C4231124 Prominent/full/wide cheeks 9047 C1857854 Proopiomelanocortin Deficiency SMDE01043 609734 C1857854 9048 C0398762 Properdin deficiency disease 9049 C1839454 PROPERDIN DEFICIENCY, X-LINKED SMDE05069 312060 C1839455|C1839456|C1839454 9050 C0268579 Propionic acidemia SMDE00961 Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. D056693 606054 35 E71.1 C0268579|C2717876|C0311298 9051 C2717876 Propionicaciduria 9052 C0752260 Proprioceptive Disorders 9053 C1833053 Proprotein Convertase 1 3 Deficiency 9054 C2751535 Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet 9055 C2931456 Prostate cancer, familial 9056 C4722327 PROSTATE CANCER, HEREDITARY, 1 SMDE04948 601518 C2931456 9057 C2678479 Prostate Cancer, Hereditary, 12 9058 C2677821 Prostate Cancer, Hereditary, 13 9059 C3539120 PROSTATE CANCER, HEREDITARY, 2 9060 C1970250 Prostate Cancer, Hereditary, 9 9061 C3469524 PROSTATE CANCER, SUSCEPTIBILITY TO 9062 C1863600 PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding) 9063 C0520477 Prostatic Adenoma 9064 C3658266 Prostatic Cancer, Castration-Resistant 9065 C0033575 Prostatic Diseases 9066 C2937421 Prostatic Hyperplasia 9067 C1739363 Prostatic Hypertrophy 9068 C0282612 Prostatic Intraepithelial Neoplasias 9069 C0033578 Prostatic Neoplasms dis_3657 DIS00665 9070 C3658267 Prostatic Neoplasms, Castration-Resistant 9071 C0033581 prostatitis dis_3658 9072 C3887980 Protanomaly 9073 C4746851 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 9074 C4747989 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 9075 C4747850 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 9076 C0398625 Protein C Deficiency dis_3661 9077 C0033626 Protein Deficiency 9078 C0242666 Protein S Deficiency 9079 C3151465 PROTEIN Z DEFICIENCY 9080 C0033680 Protein-Losing Enteropathies 9081 C0033687 Proteinuria dis_3662 9082 C0085261 Proteus Syndrome SMDE05140 Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. D016715 176920 744 Q87.3 C1867610|C0085261 9083 C1866398 Proteus-Like Syndrome (disorder) 9084 C0334580 Protoplasmic astrocytoma 9085 C4692546 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 9086 C4693947 PROTOPORPHYRIA, ERYTHROPOIETIC, 2 9087 C2677889 Protoporphyria, Erythropoietic, X-Linked Dominant 9088 C0796124 Proud Syndrome 9089 C1833453 Proximal Myopathy with Focal Depletion of Mitochondria 9090 C0033770 Prune Belly Syndrome SMDE00673 Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. C536477|D011535 100100 2970 Q79.4 C0033770|C0265363 9091 C0033774 Pruritus dis_3675 9092 C0334607 Psammomatous Meningioma 9093 C3179244 Pseudo Pelger-Huet Anomaly 9094 C0410538 Pseudoachondroplasia SMDE02949 Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. C535819 177170 750 Q77.8 C0410538 9095 C0524524 Pseudoaphakia 9096 C0268379 Pseudocholinesterase deficiency 9097 C0033793 Pseudocoloboma 9098 C0752208 Pseudodystonia 9099 C0549150 Pseudofolliculitis barbae (disorder) 9100 C0033804 Pseudohermaphroditism 9101 C1841973 Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance 9102 C0033788 Pseudo-Hurler Polydystrophy 9103 C1861453 Pseudohyperkalemia Cardiff 9104 C1836705 Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 9105 C0033805 Pseudohypoaldosteronism dis_3681 9106 C0268436 Pseudohypoaldosteronism, Type I 9107 C1449842 Pseudohypoaldosteronism, Type I, Autosomal Dominant SMDE02004 177735 C1449842 9108 C1449843 Pseudohypoaldosteronism, Type I, Autosomal Recessive SMDE00087 264350 C1449843 9109 C1449844 Pseudohypoaldosteronism, Type II 9110 C1840390 Pseudohypoaldosteronism, Type IIb SMDE01174 614491 C1840390 9111 C1840391 Pseudohypoaldosteronism, Type IIc SMDE02696 614492 C1840391 9112 C3469605 PSEUDOHYPOALDOSTERONISM, TYPE IID SMDE01780 614495 C3469605 9113 C3469606 PSEUDOHYPOALDOSTERONISM, TYPE IIE SMDE03984 614496 C3469606 9114 C0033806 Pseudohypoparathyroidism dis_3682 9115 C2932715 Pseudohypoparathyroidism Type 1B SMDE02508 Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. C548075 603233 94089 E20.1 C2932715|C1864100 9116 C2932716 Pseudohypoparathyroidism Type 1C SMDE03115 Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha). C548076 612462 79444 E20.1 C2932716 9117 C3494506 Pseudohypoparathyroidism, Type Ia SMDE01145 103580 C3494506 9118 C1864100 PSEUDOHYPOPARATHYROIDISM, TYPE IB SMDE02103 603233 C1864100 9119 C0854135 Pseudomonas aeruginosa infection 9120 C0033817 Pseudomonas Infections 9121 C4521481 Pseudomyotonia (finding) 9122 C0086873 Pseudopelade 9123 C0033835 Pseudopseudohypoparathyroidism SMDE03460 612463 C0033835 9124 C3489725 Pseudo-TORCH syndrome 9125 C4552078 PSEUDO-TORCH SYNDROME 1 9126 C4479376 PSEUDO-TORCH SYNDROME 2 9127 C0268297 Pseudovaginal Perineoscrotal Hypospadias SMDE03370 264600 C0268297|C0266435 9128 C0033847 Pseudoxanthoma Elasticum SMDE01400 Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls. D011561 264800|177850 758 Q82.8 C3279393|C0376359|C0033847|C3279392 9129 C1867450 Pseudoxanthoma Elasticum, Incomplete 9130 C1835813 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency SMDE04908 610842 C1835813 9131 C0033860 Psoriasis dis_3684 DIS00668 9132 C3279754 PSORIASIS 13, SUSCEPTIBILITY TO 9133 C4015235 PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO 9134 C1864497 PSORIASIS 2 SMDE01386 602723 C1864497 9135 C1867449 PSORIASIS SUSCEPTIBILITY 1 9136 C1835223 PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO (finding) 9137 C0860634 Psychogenic coma 9138 C0887800 Psychogenic Inversion of Circadian Rhythm 9139 C3887612 Psychomotor Agitation 9140 C0033922 Psychomotor Disorders 9141 C4510276 Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency 9142 C3281055 PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM SMDE03731 614501 C3281055 9143 C0751250 Psychophysiological Insomnia 9144 C0033937 Psychoses, Drug 9145 C0033941 Psychoses, Substance-Induced 9146 C0033943 Psychoses, Traumatic 9147 C0033953 Psychosexual Disorders 9148 C0033958 Psychosis, Brief Reactive 9149 C1571984 Psychosis, Involutional 9150 C0033975 Psychotic Disorders dis_3691 9151 C1959582 PTEN Hamartoma Tumor Syndrome 9152 C0033999 Pterygium 9153 C4229650 Pterygium colli (in some patients) 9154 C1867439 Pterygium, Antecubital 9155 C0033377 Ptosis 9156 C1867438 PTOSIS, HEREDITARY CONGENITAL 1 (disorder) 9157 C0034040 Puerperal Disorders 9158 C0155912 Pulmonary Alveolar Microlithiasis SMDE05163 265100 C0155912 9159 C0034050 Pulmonary Alveolar Proteinosis 9160 C2931035 Pulmonary alveolar proteinosis, congenital 9161 C2973725 Pulmonary arterial hypertension dis_3696 9162 C3697982 Pulmonary arterial hypertension associated with connective tissue disease 9163 C0340544 Pulmonary arterial hypertension induced by drug 9164 C3852953 Pulmonary Arterial Remodeling 9165 C0155675 Pulmonary Arteriovenous Fistulas 9166 C1857690 Pulmonary arteriovenous malformation 9167 C0340548 Pulmonary capillary hemangiomatosis dis_3701 9168 C0392164 Pulmonary Cystic Fibrosis 9169 C0034063 Pulmonary Edema dis_3704 9170 C0034065 Pulmonary Embolism dis_3705 9171 C0034067 Pulmonary Emphysema 9172 C0034068 Pulmonary Eosinophilia 9173 C0034069 Pulmonary Fibrosis dis_3707 DIS00674 9174 C2930617 Pulmonary Fibrosis - from Asbestos Exposure 9175 C3553617 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 9176 C3553622 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2 9177 C4225346 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 SMDE04978 616373 C4225346 9178 C4225347 PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 SMDE00060 616371 C4225347 9179 C0020542 Pulmonary Hypertension dis_3710 DIS00675 9180 C3714958 PULMONARY HYPERTENSION, NEONATAL, SUSCEPTIBILITY TO 9181 C4552070 Pulmonary Hypertension, Primary, 1 SMDE00069 178600 C3203102|C1969343|C1969342|C3714844 9182 C3714844 Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia 9183 C3888002 PULMONARY HYPERTENSION, PRIMARY, 2 SMDE02144 615342 C3888002 9184 C3809192 PULMONARY HYPERTENSION, PRIMARY, 3 SMDE03781 615343 C3809192 9185 C3809198 PULMONARY HYPERTENSION, PRIMARY, 4 SMDE03633 615344 C3809198 9186 C1969342 PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED 9187 C1969343 Pulmonary Hypertension, Primary, Fenfluramine-Associated 9188 C0524702 Pulmonary Thromboembolisms 9189 C0034091 Pulmonary Veno-Occlusive Disease (disorder) 9190 C3806932 PULMONARY VENOOCCLUSIVE DISEASE 1 9191 C3887658 PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT SMDE03698 265450 C3887658 9192 C0340848 PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE SMDE04163 234810 C0340848 9193 C0751559 Pulsatile Tinnitus dis_3715 9194 C0022580 Punctate keratosis 9195 C0685837 Pure Gonadal Dysgenesis, 46, XX 9196 C0268125 Purine-nucleoside phosphorylase deficiency 9197 C0034139 Purine-Pyrimidine Metabolism, Inborn Errors 9198 C0085650 Purpura Fulminans 9199 C0376362 Purpura Hemorrhagica 9200 C0242461 Purpura, Nonthrombocytopenic 9201 C0034155 Purpura, Thrombotic Thrombocytopenic 9202 C0152081 Pustular psoriasis 9203 C0030246 Pustulosis of Palms and Soles 9204 C0238402 Pycnodysostosis SMDE01254 Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones. D058631 265800 763 Q78.8 C0238402 9205 C0034186 Pyelonephritis dis_3722 9206 C1704315 Pyelonephritis acute necrotizing 9207 C0034189 Pyemia 9208 C0265294 Pyle metaphyseal dysplasia 9209 C0266159 Pyloric Atresia 9210 C0085652 Pyoderma Gangrenosum dis_3725 9211 C1858361 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 9212 C2936444 Pyogenic Sacroiliitis 9213 C1864723 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency SMDE00911 610090 C1864723 9214 C0034341 Pyruvate Carboxylase Deficiency Disease 9215 C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease 9216 C0751596 Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal 9217 C1839413 Pyruvate Dehydrogenase E1 Alpha Deficiency 9218 C3279841 Pyruvate Dehydrogenase E1-Beta Deficiency SMDE02228 614111 C3279841 9219 C1855565 Pyruvate Dehydrogenase E2 Deficiency SMDE04894 245348 C1855565 9220 C1855553 Pyruvate Dehydrogenase E3-Binding Protein Deficiency SMDE03413 245349 C1855553 9221 C1837429 Pyruvate dehydrogenase phosphatase deficiency SMDE02159 608782 C1837429 9222 C0034350 Pyruvate Metabolism, Inborn Errors 9223 C0034362 Q Fever 9224 C0270790 Quadriparesis 9225 C0034372 Quadriplegia 9226 C0272183 Qualitative abnormality of granulocyte 9227 C1866423 Quebec platelet disorder SMDE00367 601709 C1866423 9228 C2748545 QUESTION MARK EARS, ISOLATED SMDE03339 612798 C2748545 9229 C0271695 Rabson-Mendenhall Syndrome SMDE00501 Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms). D056731 262190 769 E13 C0271695 9230 C0266508 Rachischisis 9231 C1838608 Radial aplasia 9232 C1859399 Radial bowing 9233 C0345354 Radial polydactyly 9234 C1861316 Radially deviated wrists 9235 C0234254 Radiating pain 9236 C1510432 Radiation Sickness 9237 C0034535 Radiation Syndrome 9238 C0751366 Radiation-Induced Cancer 9239 C3280729 RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES SMDE00109 614416 C3280729 9240 C0473935 Radiolabeled somatostatin analog study 9241 C0158761 Radioulnar Synostosis dis_3734 9242 C1854273 Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 9243 C4551975 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 SMDE00061 605432 C1854273 9244 C4225221 RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 SMDE03534 616738 C4225221 9245 C4479637 RAHMAN SYNDROME 9246 C1850106 RAINE SYNDROME SMDE02189 259775 C1850106 9247 C0034642 Rales 9248 C0796133 Ramon Syndrome 9249 C0242423 Ramsay Hunt Paralysis Syndrome 9250 C1849453 Rapadilino syndrome SMDE01426 266280 C1849453 9251 C0427128 Rapid Fatigue of Gait 9252 C1785148 RAPP-HODGKIN SYNDROME SMDE03825 129400 C1851879|C1851878|C1785148 9253 C2674723 RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER SMDE00389 614470 C2674723 9254 C0393484 Rasmussen Syndrome 9255 C0034734 Raynaud Disease 9256 C0034735 Raynaud Phenomenon dis_3740 9257 C0011579 Reactive depression 9258 C0019068 Reactive Hemophagocytic Syndrome 9259 C0178824 Reactive Hyperemia 9260 C0271710 Reactive hypoglycemia dis_3741 9261 C0221014 Reactive systemic amyloidosis 9262 C0270541 Rebound Insomnia 9263 C0271387 Rebound Nystagmus 9264 C0007113 Rectal Carcinoma 9265 C0034885 Rectal Neoplasms DIS00680 9266 C0267581 Rectal Stenosis 9267 C4553656 Rectal Stenosis, CTCAE 9268 C1844383 Recurrent bacterial infection 9269 C0750977 Recurrent Brain Neoplasm 9270 C0221480 Recurrent depression dis_3764 9271 C0349218 Recurrent depressive disorder 9272 C3714772 Recurrent fevers 9273 C0239998 Recurrent infections dis_3776 9274 C0751648 Recurrent Low Back Pain 9275 C0154409 Recurrent major depressive episodes 9276 C3806482 Recurrent respiratory infections dis_3797 9277 C1846546 Recurrent sinopulmonary infections dis_3800 9278 C1862858 Red, cracking, peeling skin at birth 9279 C2024891 Reduced exercise tolerance 9280 C0235659 Reduced fetal movement 9281 C4225423 REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET SMDE04827 300717 C4225423 9282 C4225159 REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET SMDE01184 300718 C4225159 9283 C0270970 Reducing-body myopathy 9284 C0393720 Reflex Epilepsy, Photosensitive 9285 C0034933 Reflex, Abnormal 9286 C0522345 Reflex, Acoustic, Abnormal 9287 C0576612 Reflex, Anal, Absent 9288 C0751471 Reflex, Anal, Decreased 9289 C0751472 Reflex, Ankle, Abnormal 9290 C0558845 Reflex, Ankle, Absent 9291 C0751473 Reflex, Ankle, Decreased 9292 C0751474 Reflex, Biceps, Abnormal 9293 C0558847 Reflex, Biceps, Absent 9294 C0751475 Reflex, Biceps, Decreased 9295 C0278211 Reflex, Corneal, Absent 9296 C0151572 Reflex, Corneal, Decreased 9297 C0241772 Reflex, Deep Tendon, Absent 9298 C0234784 Reflex, Gag, Absent 9299 C0751476 Reflex, Gag, Decreased 9300 C0751477 Reflex, Knee, Abnormal 9301 C0751478 Reflex, Knee, Decreased 9302 C0751479 Reflex, Moro, Asymmetric 9303 C0277850 Reflex, Pendular 9304 C0751480 Reflex, Triceps, Abnormal 9305 C0558846 Reflex, Triceps, Absent 9306 C0751481 Reflex, Triceps, Decreased 9307 C0034951 Refractive Errors 9308 C0002894 Refractory anaemia with excess blasts 9309 C1264195 Refractory anemia with ringed sideroblasts dis_3854 9310 C0002893 Refractory anemias 9311 C0034960 Refsum Disease SMDE04240 Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa (see this term) and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. D012035 614879|266500 773 G60.1 C0034960 9312 C2749346 Refsum Disease, Adult, 2 9313 C1720802 Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency 9314 C2930922 Reginato Schiapachasse syndrome 9315 C0678202 Regional enteritis 9316 C0268301 Reifenstein Syndrome 9317 C0339278 Reis-Bucklers' corneal dystrophy 9318 C4289581 RELA fusion-positive ependymoma 9319 C0035021 Relapsing Fever 9320 C0751506 REM Sleep Deprivation 9321 C1619700 RENAL ADYSPLASIA 9322 C1378703 Renal carcinoma 9323 C0342788 Renal carnitine transport defect 9324 C0007134 Renal Cell Carcinoma dis_3872 DIS00689 9325 C3549862 Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) 9326 C3808492 Renal cell carcinoma, usually clear cell type 9327 C0235831 Renal Cell Dysplasia 9328 C0431693 Renal cysts and diabetes syndrome SMDE04886 Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY; see this term) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. C535520 137920|616026 93111 E11.2 C0431693|C2959918 9329 C3536714 Renal dysplasia dis_3879 9330 C0403553 Renal dysplasia and retinal aplasia (disorder) 9331 C3275898 RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO 9332 C0151650 Renal fibrosis dis_3882 DIS00693 9333 C0268731 Renal glomerular disease 9334 C1860392 Renal hemangioblastoma 9335 C2673885 Renal hepatic pancreatic dysplasia Dandy Walker cyst 9336 C0020544 Renal hypertension 9337 C3808069 Renal hypodysplasia 9338 C1835826 Renal Hypodysplasia, Nonsyndromic, 1 9339 C3810359 RENAL HYPODYSPLASIA/APLASIA 2 SMDE04736 615721 C3810359 9340 C4540497 RENAL HYPODYSPLASIA/APLASIA 3 9341 C2608080 RENAL HYPOPLASIA, ISOLATED (disorder) 9342 C0473219 Renal hypouricemia 9343 C1565489 Renal Insufficiency dis_3888 9344 C0001126 Renal tubular acidosis dis_3894 9345 C1864498 RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE SMDE04959 602722 C1864498|C1864499 9346 C1849435 Renal tubular acidosis, distal, type 3 9347 C1969038 RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) 9348 C0403554 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness SMDE02613 267300 C0403554 9349 C1970309 Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation SMDE03151 604278 C1970309 9350 C0268435 Renal Tubular Acidosis, Type II 9351 C2678367 Renal Tubular Dysgenesis With Choanal Atresia And Athelia 9352 C2673883 RENAL-HEPATIC-PANCREATIC DYSPLASIA 9353 C3715199 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 SMDE01678 208540 C3715199 9354 C3809434 RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 SMDE03351 615415 C3809434 9355 C0796135 Renpenning syndrome 1 SMDE01787 309500 C0796135 9356 C0035126 Reperfusion Injury dis_3896 9357 C1721098 Replication Error Phenotype 9358 C0242594 Residual Cancer 9359 C0543478 Residual Tumor 9360 C4283786 Residue on Palate 9361 C1849157 Resistance to Insulin-Like Growth Factor I 9362 C0035204 Respiration Disorders 9363 C0235063 Respiratory Depression 9364 C0852283 Respiratory Distress Syndrome dis_3907 DIS00699 9365 C0035222 Respiratory Distress Syndrome, Adult 9366 C0035220 Respiratory Distress Syndrome, Newborn 9367 C1145670 Respiratory Failure dis_3908 9368 C0035228 Respiratory Hypersensitivity 9369 C0035229 Respiratory Insufficiency dis_3910 9370 C0035234 Respiratory Sounds 9371 C0035235 Respiratory Syncytial Virus Infections 9372 C0035242 Respiratory Tract Diseases 9373 C0035243 Respiratory Tract Infections 9374 C0234379 Resting Tremor dis_3914 9375 C0035258 Restless Legs Syndrome 9376 C0007196 Restrictive cardiomyopathy 9377 C0272167 Reticular dysgenesis SMDE01253 Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. C538361 267500 33355 D81.0 C0272167|C1282908 9378 C1867332 Reticular Dystrophy Of Retinal Pigment Epithelium 9379 C0406811 Reticulate acropigmentation of Kitamura SMDE03690 615537 C0406811 9380 C0206160 Reticulocytosis dis_3926 9381 C2931884 Reticuloendotheliosis, familial, with eosinophilia 9382 C0024302 Reticulosarcoma 9383 C3280205 RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS SMDE03722 614224 C3280205 9384 C1867327 RETINAL ARTERIES, TORTUOSITY OF SMDE03705 180000 C1867327 9385 C1866293 Retinal cone dystrophy 2 9386 C1864900 Retinal Cone Dystrophy 3A SMDE04588 610024 C1864900|C3552227 9387 C1835897 Retinal Cone Dystrophy 3B SMDE01829 610356 C1835897 9388 C1864849 RETINAL CONE DYSTROPHY 4 SMDE00481 610478 C1864849 9389 C0035304 Retinal Degeneration dis_3928 9390 C0035305 Retinal Detachment dis_3930 9391 C0035309 Retinal Diseases 9392 C0035313 Retinal Dysplasia 9393 C0854723 Retinal Dystrophies 9394 C4225233 RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT SMDE03543 616722 C4225233 9395 C4015424 RETINAL DYSTROPHY AND OBESITY SMDE03491 616188 C4015424 9396 C4049066 Retinal dystrophy with early macular involvement 9397 C4015146 RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES SMDE02426 616079 C4015146 9398 C4310680 RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 9399 C4479651 RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA 9400 C1858080 Retinal Dystrophy, Early Onset Severe 9401 C2750064 Retinal Dystrophy, Early-Onset Severe, Lrat-Related 9402 C3554593 RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME SMDE04662 615147 C3554593 9403 C4015242 RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME SMDE04357 616108 C4015242 9404 C0035320 Retinal Neovascularization dis_3936 9405 C1857299 RETINAL NONATTACHMENT, NONSYNDROMIC CONGENITAL 9406 C0339546 Retinal Pigment Epithelial Detachment 9407 C1860475 Retinal vascular tortuosity 9408 C0035328 Retinal Vein Occlusion 9409 C0035333 Retinitis 9410 C0035334 Retinitis Pigmentosa dis_3938 SMDE02977 9411 C0220701 RETINITIS PIGMENTOSA 1 SMDE03501 180100 C0220701 9412 C1867299 Retinitis Pigmentosa 10 SMDE04739 180105 C1867299 9413 C1838601 Retinitis Pigmentosa 11 SMDE03159 600138 C1838601 9414 C1838647 RETINITIS PIGMENTOSA 12 (disorder) 9415 C1838702 Retinitis Pigmentosa 13 SMDE02446 600059 C1838702 9416 C1838603 Retinitis Pigmentosa 14 SMDE02477 600132 C1838603 9417 C1833245 Retinitis Pigmentosa 17 SMDE04781 600852 C1833245 9418 C1832378 Retinitis Pigmentosa 18 SMDE04076 601414 C1832378 9419 C1866422 RETINITIS PIGMENTOSA 19 SMDE01196 601718 C1866422 9420 C2681923 RETINITIS PIGMENTOSA 2 (disorder) 9421 C3151086 Retinitis Pigmentosa 20 SMDE00369 613794 C3151086 9422 C1864446 Retinitis Pigmentosa 25 SMDE03844 602772 C1864446 9423 C1842127 Retinitis Pigmentosa 26 SMDE03738 608380 C1842127 9424 C1834329 RETINITIS PIGMENTOSA 27 SMDE04217 613750 C1834330|C1834329 9425 C1419614 RETINITIS PIGMENTOSA 28 SMDE04816 606068 C1419614 9426 C1845667 RETINITIS PIGMENTOSA 3 SMDE03327 300029 C1845667 9427 C1842816 RETINITIS PIGMENTOSA 30 SMDE02176 607921 C1842816|C0024437 9428 C1835923 Retinitis Pigmentosa 31 SMDE04052 609923 C1835923 9429 C1835895 RETINITIS PIGMENTOSA 33 (disorder) 9430 C1853214 RETINITIS PIGMENTOSA 35 SMDE04027 610282 C1853214 9431 C1864621 RETINITIS PIGMENTOSA 36 SMDE04822 610599 C1864621 9432 C1970163 RETINITIS PIGMENTOSA 37 (disorder) 9433 C3151228 RETINITIS PIGMENTOSA 38 (disorder) 9434 C3151138 RETINITIS PIGMENTOSA 39 (disorder) 9435 C3151001 Retinitis Pigmentosa 4 SMDE03768 613731 C3151001 9436 C3151107 RETINITIS PIGMENTOSA 40 (disorder) 9437 C2677516 RETINITIS PIGMENTOSA 41 (disorder) 9438 C2751986 RETINITIS PIGMENTOSA 42 SMDE05164 612943 C2751986 9439 C3151139 RETINITIS PIGMENTOSA 43 SMDE00555 613810 C3151139 9440 C3151068 RETINITIS PIGMENTOSA 44 SMDE02991 613769 C3151068 9441 C3151066 RETINITIS PIGMENTOSA 45 SMDE02708 613767 C3151066 9442 C2675496 Retinitis Pigmentosa 46 SMDE04390 612572 C2675496 9443 C3151061 RETINITIS PIGMENTOSA 47 SMDE02682 613758 C3151061 9444 C3151190 RETINITIS PIGMENTOSA 48 SMDE02948 613827 C3151190 9445 C3151059 RETINITIS PIGMENTOSA 49 SMDE00631 613756 C3151059 9446 C3150715 RETINITIS PIGMENTOSA 51 SMDE02903 613464 C3150715 9447 C3150691 RETINITIS PIGMENTOSA 54 SMDE02161 613428 C3150691 9448 C3150808 RETINITIS PIGMENTOSA 55 SMDE00215 613575 C3150808 9449 C3150819 RETINITIS PIGMENTOSA 56 SMDE05025 613581 C3150819 9450 C3150821 RETINITIS PIGMENTOSA 57 SMDE01003 613582 C3150821 9451 C3150879 RETINITIS PIGMENTOSA 58 SMDE04284 613617 C3150879 9452 C3151227 RETINITIS PIGMENTOSA 59 SMDE02889 613861 C3151227 9453 C3151434 RETINITIS PIGMENTOSA 60 SMDE03622 613983 C3151434 9454 C3280041 RETINITIS PIGMENTOSA 61 SMDE04185 614180 C3280041 9455 C3280042 RETINITIS PIGMENTOSA 62 SMDE03792 614181 C3280042 9456 C3715216 RETINITIS PIGMENTOSA 66 SMDE00398 615233 C3715216 9457 C3809954 RETINITIS PIGMENTOSA 67 SMDE02639 615565 C3809954 9458 C3810380 RETINITIS PIGMENTOSA 68 SMDE03437 615725 C3810380 9459 C4014312 RETINITIS PIGMENTOSA 69 SMDE00859 615780 C4014312 9460 C1842475 Retinitis Pigmentosa 7 SMDE02716 608133 C4013102|C2675552|C1842475 9461 C4014681 RETINITIS PIGMENTOSA 70 SMDE00950 615922 C4014681 9462 C4225342 RETINITIS PIGMENTOSA 71 SMDE01917 616394 C4225342 9463 C4225315 RETINITIS PIGMENTOSA 72 SMDE03246 616469 C4225315 9464 C4225287 RETINITIS PIGMENTOSA 73 SMDE01087 616544 C4225287 9465 C4225281 RETINITIS PIGMENTOSA 74 SMDE03900 616562 C4225281 9466 C4310759 RETINITIS PIGMENTOSA 75 9467 C4310704 RETINITIS PIGMENTOSA 76 9468 C4310626 RETINITIS PIGMENTOSA 77 9469 C4479481 RETINITIS PIGMENTOSA 78 9470 C4479526 RETINITIS PIGMENTOSA 79 9471 C4540439 RETINITIS PIGMENTOSA 80 9472 C4693443 RETINITIS PIGMENTOSA 81 9473 C4747737 RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS 9474 C4748536 RETINITIS PIGMENTOSA 83 9475 C4748725 RETINITIS PIGMENTOSA 84 9476 C1867300 RETINITIS PIGMENTOSA 9 SMDE03527 180104 C1867300 9477 C4310776 RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS SMDE04694 616959 C4310776 9478 C2750789 RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 9479 C2751763 Retinitis Pigmentosa, Juvenile, Aipl1-Related 9480 C2750065 RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED 9481 C2751780 Retinitis Pigmentosa, Juvenile, SPATA7-Related 9482 C2749137 Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness SMDE02234 300455 C2749137 9483 C1405854 Retinitis punctata albescens (disorder) 9484 C0035335 Retinoblastoma dis_3940 SMDE01210 9485 C0856901 Retinol Deficiency 9486 C0035344 Retinopathy of Prematurity SMDE01598 Retinopathy of prematurity (ROP) is a rare retinal vasoproliferative disorder affecting preterm infants characterized initially by a delay in physiologic retinal vascular development, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization. D012178 133780 90050 H35.1 C0035344 9487 C1962966 Retinopathy, CTCAE 9488 C0152439 Retinoschisis 9489 C3714753 RETINOSCHISIS 1, X-LINKED, JUVENILE SMDE03923 312700 C3714753 9490 C1137478 Retinoschisis, Degenerative 9491 C0271091 Retinoschisis, Juvenile, X-Linked 9492 C0520731 Retraction Nystagmus 9493 C0085582 Retrobulbar Neuritis 9494 C3494422 Retrognathia 9495 C4231123 Retrognathia (in some patients) 9496 C0002624 Retrograde amnesia 9497 C0750909 Retrograde Memory Loss 9498 C0751189 Retro-Ocular Headache 9499 C0035372 Rett Syndrome SMDE01493 Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. D015518 312750 778 F84.2 C2748910|C2677682|C0035372|C1839332 9500 C2748910 Rett Syndrome, Atypical 9501 C1327916 REVESZ SYNDROME (disorder) 9502 C0748397 Reynolds syndrome SMDE02577 Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms). 613471 779 L94.0|K74.3 C0748397 9503 C0272052 Rh Deficiency Syndrome 9504 C0206743 Rhabdoid Tumor 9505 C2985524 Rhabdoid tumor predisposition syndrome 9506 C1836327 RHABDOID TUMOR PREDISPOSITION SYNDROME 1 (disorder) 9507 C2750074 Rhabdoid Tumor Predisposition Syndrome 2 9508 C0035410 Rhabdomyolysis dis_3945 9509 C1832733 Rhabdomyolysis, Cerivastatin-Induced 9510 C0035411 Rhabdomyoma 9511 C0035412 Rhabdomyosarcoma dis_3946 9512 C1849385 Rhabdomyosarcoma 1 9513 C1867234 Rhabdomyosarcoma, Embryonal, 2 SMDE04586 180295 C1867234 9514 C1836081 RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 9515 C0152113 Rheumatic Chorea 9516 C0003873 Rheumatoid Arthritis dis_3949 DIS00702 9517 C1858558 Rheumatoid Arthritis, Systemic Juvenile 9518 C0086922 Rheumatoid Purpura 9519 C0393681 Rhinencephalic Epilepsy 9520 C0035455 Rhinitis dis_3951 9521 C0035457 Rhinitis, Allergic, Perennial 9522 C0751513 Rhinolalia 9523 C1260880 Rhinorrhea dis_3953 9524 C4552662 Rhinorrhea, CTCAE 9525 C1866730 Rhizomelia 9526 C1859133 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 SMDE04574 215100 C1859133|C0282529 9527 C1857242 Rhizomelic chondrodysplasia punctata, type 2 SMDE04255 222765 C1857242 9528 C1838612 Rhizomelic chondrodysplasia punctata, type 3 SMDE03273 600121 C1838612 9529 C4225237 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 SMDE04692 616716 C4225237 9530 C1849387 Rh-Null, Regulator Type SMDE03532 268150 C0272052|C1849387 9531 C0035508 Rhonchi 9532 C1865794 RHYNS syndrome 9533 C0035528 Riboflavin Deficiency SMDE02825 DIS00705 615026 C0035528 9534 C1291609 Ribose 5-Phosphate Isomerase Deficiency SMDE03718 608611 C1291609 9535 C1849348 Richieri Costa Pereira syndrome 9536 C0035579 Rickets dis_3954 9537 C3540852 Rickets, X-Linked Hypophosphatemic 9538 C0035585 Rickettsia Infections 9539 C2677792 Riddle Syndrome SMDE01497 611943 C2677792 9540 C0265341 Rieger syndrome 9541 C3810012 RIENHOFF SYNDROME 9542 C3178806 Right Atrial Isomerism SMDE00315 208530 C1876172|C0265357|C1876171|C1876173|C3178806|C0175707 9543 C0751849 Right Middle Cerebral Artery Infarction 9544 C0242707 Right Ventricular Dysfunction 9545 C0162770 Right Ventricular Hypertrophy 9546 C3281029 RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL SMDE02013 614498 C3281029 9547 C1867155 RING DERMOID OF CORNEA SMDE00143 180550 C1867155 9548 C1853698 Rippling muscle disease SMDE01609 606072 C1853698|C1832560 9549 C1838254 RIPPLING MUSCLE DISEASE 1 9550 C1832560 RIPPLING MUSCLE DISEASE 2 (disorder) 9551 C4551776 RITSCHER-SCHINZEL SYNDROME 1 SMDE04772 220210 C0796137 9552 C4225419 RITSCHER-SCHINZEL SYNDROME 2 SMDE00084 300963 C4225419 9553 C0392475 Roberts-SC phocomelia syndrome 9554 C1867146 Robinow Sorauf syndrome 9555 C0265205 Robinow Syndrome 9556 C4551476 Robinow Syndrome, Autosomal Dominant 9557 C4551475 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 SMDE02093 180700 C0265205 9558 C4225363 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 SMDE02568 616331 C4225363 9559 C4225164 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 9560 C1849334 Robinow syndrome, autosomal recessive SMDE03688 268310 C3151609|C3151610|C1849334 9561 C4551714 Rod-Cone Dystrophy 9562 C1846059 Roifman syndrome SMDE04696 616651 C1846059 9563 C2750068 Roifman-Chitayat Syndrome 9564 C1845070 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked SMDE02582 300643 C1845070 9565 C0035828 Romano-Ward Syndrome 9566 C0240595 Rotary Nystagmus 9567 C0032339 Rothmund-Thomson syndrome SMDE00428 268400 C0032339 9568 C0220991 Rotor Syndrome SMDE05010 Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. 237450 3111 E80.6 C0220991 9569 C0205713 Roussy-Levy Syndrome (disorder) 9570 C0265222 Royer Syndrome 9571 C1419610 RP23 gene 9572 C0035934 Rubinstein-Taybi Syndrome 9573 C4551859 RUBINSTEIN-TAYBI SYNDROME 1 SMDE02421 180849 C0035934 9574 C3150941 RUBINSTEIN-TAYBI SYNDROME 2 SMDE02541 613684 C3150941 9575 C0406704 Rudiger syndrome 1 9576 C4015461 RUIJS-AALFS SYNDROME SMDE02820 616200 C4015461 9577 C0854119 Ruptured Appendicitis 9578 C0175693 Russell-Silver syndrome 9579 C2936921 Saccharopine dehydrogenase deficiency 9580 C0268556 Saccharopinuria SMDE02755 268700 C0268556 9581 C2713497 Saccular Aneurysm 9582 C0344490 Sacral agenesis 9583 C1867774 Sacral Agenesis Syndrome 9584 C3810343 SACRAL AGENESIS WITH VERTEBRAL ANOMALIES SMDE03858 615709 C3810343 9585 C1838568 Sacral defect and anterior sacral meningocele 9586 C0431414 Sacral dysgenesis 9587 C0574960 Sacroiliitis 9588 C3151058 S-adenosylhomocysteine hydrolase deficiency 9589 C0175699 Saethre-Chotzen Syndrome SMDE04516 Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. 101400 794 Q87.0 C1863370|C1863371|C0175699 9590 C1863370 Saethre-Chotzen Syndrome with Eyelid Anomalies 9591 C0751824 Sagittal Sinus Thrombophlebitis 9592 C0338575 Sagittal Sinus Thrombosis 9593 C1527366 Salaam Seizures 9594 C0403548 Salcedo syndrome 9595 C0036069 Saldino-Noonan Syndrome 9596 C0036095 Salivary Gland Neoplasms 9597 C1519176 Salivary Gland Pleomorphic Adenoma 9598 C0036118 Salmonella Infections, Animal 9599 C0036161 Sandhoff Disease SMDE01168 268800 C1849321|C1849322|C0036161|C1849320 9600 C1849320 Sandhoff Disease, Adult Type 9601 C1849322 Sandhoff Disease, Infantile Type 9602 C1849321 Sandhoff Disease, Juvenile Type 9603 C2936331 Sarcoglycanopathies 9604 C0036202 Sarcoidosis dis_3964 SMDE00508 9605 C1836122 SARCOIDOSIS, EARLY-ONSET 9606 C1261473 Sarcoma dis_3965 DIS00708 9607 C0036214 Sarcoma, Engelbreth-Holm-Swarm 9608 C0205944 Sarcoma, Epithelioid 9609 C0036216 Sarcoma, Experimental 9610 C0036219 Sarcoma, Jensen 9611 C0205945 Sarcoma, Spindle Cell 9612 C1266043 Sarcomatoid Renal Cell Carcinoma 9613 C0872084 Sarcopenia dis_3967 9614 C0268563 Sarcosinemia 9615 C0040827 Saturnine Tremor 9616 C1300285 SAUL-WILSON SYNDROME 9617 C1867020 SCALP-EAR-NIPPLE SYNDROME SMDE01796 Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. C536623 181270 2036 Q87.8 C1867020 9618 C1867564 SCAPHOCEPHALY AND AXENFELD-RIEGER ANOMALY 9619 C1865070 SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION SMDE03520 609579 C1865070 9620 C0265534 Scaphycephaly 9621 C0751335 Scapuloperoneal Form of Spinal Muscular Atrophy 9622 C2931268 Scapuloperoneal myopathy 9623 C2678061 SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT SMDE01230 300695 C2678061 9624 C1867005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type SMDE02618 181400 C1867005 9625 C2936846 Scarring alopecia 9626 C0036305 Schamberg Disease 9627 C1834038 Schilbach-Rott Syndrome 9628 C0877024 Schimke immunoosseous dysplasia SMDE02148 242900 C0877024 9629 C1836544 Schindler Disease, Type I SMDE05041 609241 C1836545|C1836544 9630 C1836522 Schindler Disease, Type II 9631 C1836545 Schindler Disease, Type III 9632 C0265227 Schinzel-Giedion syndrome 9633 C0036323 Schistosomiasis dis_3974 9634 C0036330 Schistosomiasis mansoni 9635 C0266484 Schizencephaly SMDE04791 Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. 269160 799 Q04.6 C0266484 9636 C0036337 Schizoaffective Disorder 9637 C0270496 Schizoaffective disorder, bipolar type 9638 C0036341 Schizophrenia dis_3975 SMDE01604 DIS00711 9639 C0220702 SCHIZOPHRENIA 1 (disorder) 9640 C1842605 SCHIZOPHRENIA 11 9641 C1837893 SCHIZOPHRENIA 12 9642 C3151380 SCHIZOPHRENIA 15 9643 C1833247 SCHIZOPHRENIA 4 (disorder) 9644 C0809983 Schizophrenia and related disorders 9645 C0525046 Schizophrenia Spectrum and Other Psychotic Disorders 9646 C0036344 Schizophrenia, Catatonic 9647 C0036346 Schizophrenia, Childhood 9648 C2678117 Schizophrenia-like symptoms (uncommon) 9649 C0750993 Schizophreniform Catatonia 9650 C0036358 Schizophreniform Disorders 9651 C0432194 Schneckenbecken dysplasia SMDE04298 Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. C536637 269250 3144 Q77.7 C0432194 9652 C0524988 Schnitzler Syndrome 9653 C0271287 Schnyder crystalline corneal dystrophy 9654 C1857069 SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) 9655 C1136043 Schwannoma, Acoustic, Bilateral 9656 C1335929 Schwannomatosis 9657 C4048809 SCHWANNOMATOSIS 1 SMDE00180 162091 C4048809 9658 C3810283 SCHWANNOMATOSIS 2 9659 C0751374 Schwannomatosis, Plexiform 9660 C0036391 Schwartz-Jampel Syndrome SMDE04898 Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities. 255800 800 G71.1|Q78.8 C0036391 9661 C4551479 Schwartz-Jampel Syndrome, Type 1 SMDE03561 255800 C0036391 9662 C0265292 Schwartz-Lelek syndrome 9663 C0751925 Sciatic Nerve Palsy 9664 C0242013 Sciatic Neuritis 9665 C0149940 Sciatic Neuropathy 9666 C1863236 SCID Due to ADA Deficiency, Early-Onset 9667 C0155359 Scleral staphyloma 9668 C1866984 Sclerocornea, Autosomal Dominant 9669 C1136382 Sclerocystic Ovaries 9670 C0011644 Scleroderma dis_3980 9671 C0748540 Scleroderma, Limited 9672 C4479344 SCLEROSING CHOLANGITIS, NEONATAL 9673 C0036429 Sclerosis 9674 C0265301 Sclerosteosis SMDE00370 Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. C537525 614305|269500 3152 M85.2 C0265301 9675 C4551483 SCLEROSTEOSIS 1 SMDE01895 269500 C0265301 9676 C3280402 SCLEROSTEOSIS 2 SMDE00499 614305 C3280402 9677 C3281191 SCN8A-related epilepsy with encephalopathy 9678 C2700406 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 1 (finding) 9679 C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 9680 C0036439 Scoliosis, unspecified 9681 C0796149 Scott Syndrome SMDE02774 262890 C0796149 9682 C0036457 Scrapie dis_3985 9683 C0036489 Sea-Blue Histiocyte Syndrome 9684 C0085159 Seasonal Affective Disorder 9685 C0036503 Sebaceous Gland Neoplasms 9686 C1854520 SEBASTIAN SYNDROME SMDE04316 605249 C1854520 9687 C3671377 Sebocystomatosis SMDE05205 Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities. 184500 841 L72.2 C0259771|C3671377 9688 C1853258 Seborrhea-Like Dermatitis with Psoriasiform Elements SMDE04634 610227 C1853258 9689 C0022603 Seborrheic keratosis dis_3992 9690 C0265202 Seckel syndrome SMDE01950 C537533 613676|210600|616171|613823|616777|600546 808 Q87.1 9691 C4551474 Seckel syndrome 1 SMDE00127 210600 C0265202 9692 C4310647 SECKEL SYNDROME 10 9693 C1847572 SECKEL SYNDROME 2 SMDE01820 606744 C1847572 9694 C3888212 SECKEL SYNDROME 4 SMDE02158 613676 C3888212 9695 C3151187 SECKEL SYNDROME 5 SMDE03701 613823 C3151187 9696 C3553582 SECKEL SYNDROME 6 SMDE00509 614728 C3553582 9697 C3553870 SECKEL SYNDROME 7 SMDE02946 614851 C3553870 9698 C3891452 SECKEL SYNDROME 8 SMDE04258 615807 C3891452 9699 C4225212 SECKEL SYNDROME 9 SMDE01831 616777 C4225212 9700 C0280449 secondary acute myeloid leukemia 9701 C0948387 Secondary Adrenal Insufficiency 9702 C0238065 Secondary Biliary Cholangitis 9703 C3665349 Secondary hypothyroidism 9704 C0751251 Secondary Insomnia 9705 C0271148 Secondary Open Angle Glaucoma 9706 C0030569 Secondary Parkinson Disease 9707 C1449647 Secondary Peritonitis 9708 C0393787 Secondary Trigeminal Neuralgia 9709 C1384406 Secretory meningioma 9710 C0344243 See-Saw Nystagmus 9711 C4524082 Segawa syndrome 9712 C0393912 Segmental Autonomic Dysfunction 9713 C0751057 Seizure, Febrile, Complex 9714 C0149886 Seizure, Febrile, Simple 9715 C0036572 Seizures dis_3999 DIS00716 9716 C0422852 Seizures, Auditory 9717 C1853995 SEIZURES, BENIGN FAMILIAL INFANTILE, 2 9718 C1843140 SEIZURES, BENIGN FAMILIAL INFANTILE, 3 SMDE02091 607745 C1843140 9719 C4310728 SEIZURES, BENIGN FAMILIAL INFANTILE, 5 9720 C3149074 SEIZURES, BENIGN FAMILIAL NEONATAL, 1 SMDE01041 121200 C2751195|C3149074|C3149075 9721 C4225261 SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME SMDE01405 616632 C4225261 9722 C0751495 Seizures, Focal 9723 C2674422 Seizures, intractable 9724 C4225248 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME SMDE02858 616682 C4225248 9725 C0751496 Seizures, Sensory 9726 C0422850 Seizures, Somatosensory 9727 C4049006 Selective immunoglobulin A deficiency 9728 C1855789 Self-Healing Collodion Baby 9729 C0338462 Semantic Dementia 9730 C0454655 Semantic-Pragmatic Disorder 9731 C0751617 Semilobar Holoprosencephaly dis_4005 9732 C0036631 Seminoma 9733 C0268407 Senile cardiac amyloidosis 9734 C0338630 Senile Paranoid Dementia 9735 C0333463 Senile Plaques dis_4007 9736 C0149840 Senile Tremor 9737 C4551559 Senior-Loken Syndrome 1 SMDE02583 266900 C0403553 9738 C1846979 SENIOR-LOKEN SYNDROME 4 SMDE04763 606996 C1846979 9739 C1836517 Senior-Loken Syndrome 5 SMDE00321 609254 C1836517 9740 C1857779 SENIOR-LOKEN SYNDROME 6 SMDE01356 610189 C1857779 9741 C3150877 SENIOR-LOKEN SYNDROME 7 SMDE02656 613615 C3150877 9742 C4225376 SENIOR-LOKEN SYNDROME 8 SMDE01993 616307 C4225376 9743 C4225263 SENIOR-LOKEN SYNDROME 9 SMDE02980 616629 C4225263 9744 C0036659 Sensation Disorders 9745 C1510410 Sense of smell altered 9746 C1112256 Sensorimotor neuropathy 9747 C0018784 Sensorineural Hearing Loss (disorder) dis_4009 9748 C0452138 Sensorineural hearing loss, bilateral 9749 C3281298 Sensorineural hearing loss, progressive bilateral postlingual 9750 C1843851 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis SMDE02609 607459 C4225440|C1843851|C1843852|C4225409 9751 C0152027 Sensory Disorders 9752 C1691779 Sensory hearing loss 9753 C0699739 Sensory Neuropathy, Hereditary 9754 C0265336 Senter syndrome 9755 C0003477 Separation Anxiety Disorder 9756 C0243026 Sepsis dis_4014 DIS00720 9757 C0751823 Septic Phlebitis, Sagittal Sinus 9758 C2936445 Septic Sacroiliitis 9759 C0036983 Septic Shock dis_4017 DIS00721 9760 C0036690 Septicemia 9761 C0338503 Septo-Optic Dysplasia 9762 C0036769 Sertoli Cell Tumor 9763 C0206723 Sertoli-Leydig Cell Tumor 9764 C0003810 Sertoli-Leydig cell tumor of ovary 9765 C1314665 Serum alkaline phosphatase raised 9766 C0036830 Serum Sickness 9767 C2748572 SeSAME syndrome 9768 C4310714 SESSILE SERRATED POLYPOSIS CANCER SYNDROME 9769 C1175175 Severe Acute Respiratory Syndrome dis_4019 DIS00722 9770 C1883018 Severe Aplastic Anemia 9771 C0410173 Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 9772 C0085110 Severe Combined Immunodeficiency dis_4022 9773 C0392607 Severe combined immunodeficiency due to adenosine deaminase deficiency 9774 C4706524 Severe combined immunodeficiency due to CTPS1 deficiency 9775 C1969799 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 9776 C1865370 Severe combined immunodeficiency with sensitivity to ionizing radiation SMDE02296 602450 C1865371|C1865372|C1865370|C1865373 9777 C1837028 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive 9778 C1832322 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive SMDE05127 601457 C1832322 9779 C1833275 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative SMDE00845 600802 C1833275 9780 C1867362 SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE 9781 C3853041 Severe Congenital Microcephaly 9782 C1853118 Severe congenital neutropenia 9783 C0019100 Severe Dengue 9784 C0588008 Severe depression 9785 C3809719 Severe dermatitis, multiple allergies, metabolic wasting syndrome 9786 C4707897 Severe early-onset axonal neuropathy due to mitofusin 2 deficiency 9787 C0272322 Severe hereditary factor VIII deficiency disease 9788 C4755264 Severe intellectual disability and progressive spastic paraplegia 9789 C0270458 Severe major depression with psychotic features 9790 C0271183 Severe myopia 9791 C4750855 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 9792 C4025886 Severe periodontitis dis_4030 9793 C1854919 Severe psychomotor retardation 9794 C1719672 Severe Sepsis 9795 C0206724 Sex Cord-Stromal Tumor 9796 C2930619 Sex Differentiation Disorders 9797 C2678492 Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs 9798 C0036902 Sexual Arousal Disorder 9799 C0242341 Sexual Infantilism 9800 C0562557 Sexually disinhibited behavior 9801 C0036920 Sezary Syndrome 9802 C0036939 Shared Paranoid Disorder 9803 C0751190 Sharp Headache 9804 C4310672 SHASHI-PENA SYNDROME 9805 C0242342 Sheehan Syndrome 9806 C0751760 Shift-Work Sleep Disorder 9807 C0036974 Shock 9808 C0036980 Shock, Cardiogenic 9809 C0036982 Shock, Hemorrhagic 9810 C1868705 Shone complex 9811 C1856730 Short bowed radii 9812 C4023124 Short digit 9813 C3808883 Short neck (in some patients) 9814 C2348199 Short Qt Syndrome 9815 C1865020 Short QT Syndrome 1 SMDE00460 609620 C1865020 9816 C1865019 SHORT QT SYNDROME 2 (disorder) 9817 C1865018 Short QT Syndrome 3 SMDE02088 609622 C1865018 9818 C0036996 Short Rib-Polydactyly Syndrome 9819 C0432198 Short rib-polydactyly syndrome, Beemer type 9820 C0432197 Short rib-polydactyly syndrome, Verma-Naumoff type SMDE01239 Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. C537602 615633|614091|615503|613091 93271 Q77.2 C0432197 9821 C0751509 Short Sleeper Syndrome 9822 C0349588 Short stature 9823 C4014339 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES SMDE00433 615789 C4014339 9824 C4225399 SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES SMDE04243 616255 C4225399 9825 C1865361 SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES 9826 C4310689 SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES 9827 C2919142 Short Stature, CTCAE 9828 C4310751 SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS 9829 C4693481 SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 9830 C4540367 SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES 9831 C1858656 Short Stature, Idiopathic, Autosomal 9832 C1845118 SHORT STATURE, IDIOPATHIC, X-LINKED 9833 C4225288 SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION SMDE01380 616541 C4225288 9834 C3542022 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 9835 C3541319 SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY SMDE01712 614800 C3541319 9836 C4310686 SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY 9837 C0878684 SHORT syndrome SMDE00959 269880 C0878684 9838 C0240583 Short upturned nose 9839 C0151879 Shortened QT interval 9840 C3810175 SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY SMDE03653 615630 C3810175 9841 C3810200 SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY SMDE04650 615633 C3810200 9842 C4225378 SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY SMDE01528 616300 C4225378 9843 C4225286 SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY SMDE05179 616546 C4225286 9844 C4310724 SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 9845 C4310718 SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY 9846 C4479416 SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY 9847 C4693420 SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY 9848 C4693524 SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 9849 C4693616 SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY 9850 C3151185 SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY SMDE04754 613819 C3151185 9851 C3280598 SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY SMDE02860 614376 C3280598 9852 C3279792 SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY SMDE04312 614091 C3279792 9853 C4747658 SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC 9854 C3809691 SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY SMDE03079 615503 C3809691 9855 C0220704 Shprintzen syndrome 9856 C1321551 Shprintzen-Goldberg syndrome 9857 C0272170 Shwachman syndrome 9858 C4692625 SHWACHMAN-DIAMOND SYNDROME 1 9859 C4693704 SHWACHMAN-DIAMOND SYNDROME 2 9860 C0037019 Shy-Drager Syndrome DIS00726 9861 C1096903 Sialic Acid Storage Disease, Finnish Type (disorder) 9862 C4282398 Sialidase deficiency 9863 C3888317 Sialidosis, type 2 9864 C0037036 Sialorrhea 9865 C0342853 Sialuria SMDE01450 Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive,slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. C537332 269921 3166 E77.8 C0342853|C2931471 9866 C0086981 Sicca Syndrome 9867 C0037050 Sick Building Syndrome 9868 C0700438 Sick Headaches 9869 C0037052 Sick Sinus Syndrome dis_4052 9870 C1837845 SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE 9871 C1834144 Sick Sinus Syndrome 2, Autosomal Dominant 9872 C3279791 SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO 9873 C1846055 Siderius X-linked mental retardation syndrome SMDE04759 300263 C1846055 9874 C0002896 Sideroblastic anemia dis_4053 9875 C4015172 SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY SMDE02768 616084 C4015172 9876 C4310688 SIFRIM-HITZ-WEISS SYNDROME 9877 C0037116 Silicosis 9878 C0456483 Simple Endometrial Hyperplasia 9879 C0234974 Simple Partial Seizures 9880 C0751524 Simple Partial Status Epilepticus 9881 C0242459 Simple Pulmonary Eosinophilia 9882 C0796154 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 SMDE02883 312870 C0796154 9883 C1846175 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 9884 C0751110 Single Seizure 9885 C0432254 Singleton Merten syndrome 9886 C4225427 SINGLETON-MERTEN SYNDROME 1 SMDE02746 182250 C4225427 9887 C4225380 SINGLETON-MERTEN SYNDROME 2 SMDE01135 616298 C4225380 9888 C0037188 Sinoatrial Block 9889 C3554018 SINOATRIAL NODE DYSFUNCTION AND DEAFNESS SMDE03786 614896 C3554018 9890 C1710096 Sinonasal undifferentiated carcinoma 9891 C0019625 Sinus histiocytosis 9892 C0428908 Sinus Node Dysfunction (disorder) 9893 C0039239 Sinus Tachycardia dis_4058 9894 C0037198 Sinus Thrombosis, Intracranial 9895 C0037199 Sinusitis dis_4059 9896 C0342907 Sitosterolemia SMDE03007 DIS00729 210250 C2749759|C0342907 9897 C1167664 Situs ambiguous 9898 C0266642 Situs ambiguus 9899 C0037221 Situs Inversus 9900 C0037231 Sjogren-Larsson Syndrome SMDE03559 DIS00730 270200 C0037231 9901 C1527336 Sjogren's Syndrome DIS00731 9902 C2676231 Skeletal Defects, Genital Hypoplasia, And Mental Retardation SMDE02938 612447 C2676231 9903 C0410528 Skeletal dysplasia 9904 C0037268 Skin Abnormalities dis_4070 9905 C4551592 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 SMDE00838 156610 C0473586 9906 C4225225 SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 SMDE01695 616734 C4225225 9907 C0162819 Skin Diseases, Vascular 9908 C1843292 Skin Fragility-Woolly Hair Syndrome SMDE01317 607655 C1843292 9909 C0343115 Skin Mastocytoma 9910 C0037286 Skin Neoplasms dis_4078 9911 C1844615 Skin peeling/scaling (newborn) 9912 C0037299 Skin Ulcer dis_4082 9913 C1856895 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 9914 C2677190 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder) 9915 C2673584 SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5 (disorder) 9916 C2677086 Skin-Hair-Eye Pigmentation, Variation In, 11 9917 C2676042 Skin-Hair-Eye Pigmentation, Variation In, 4 9918 C4539927 SKRABAN-DEARDORFF SYNDROME 9919 C0037315 Sleep Apnea Syndromes 9920 C0338495 Sleep Apnea, Mixed Central and Obstructive 9921 C0520679 Sleep Apnea, Obstructive 9922 C0037316 Sleep Deprivation 9923 C0851578 Sleep Disorders dis_4087 9924 C0877792 Sleep Disorders, Circadian Rhythm 9925 C0752293 Sleep Disorders, Extrinsic 9926 C0751507 Sleep Fragmentation 9927 C0021603 Sleep Initiation and Maintenance Disorders 9928 C0751252 Sleep Initiation Dysfunction 9929 C4042891 Sleep Wake Disorders 9930 C4551689 Sleep-Disordered Breathing 9931 C0917801 Sleeplessness 9932 C0751510 Sleep-Related Neurogenic Tachypnea 9933 C1842357 Slowed Nerve Conduction Velocity, Autosomal Dominant SMDE02140 608236 C1842357 9934 C2713615 Slow-Flow Phenomenon 9935 C3714240 Smad4-Related Juvenile Polyposis 9936 C0149925 Small cell carcinoma of lung 9937 C2212006 Small cell carcinoma of ovary 9938 C3276706 Small Fiber Neuropathy 9939 C1336005 Small Intestinal Neuroendocrine Neoplasm 9940 C0855095 Small Lymphocytic Lymphoma 9941 C1840061 SMALL PATELLA SYNDROME 9942 C4225259 SMITH-KINGSMORE SYNDROME 9943 C0175694 Smith-Lemli-Opitz Syndrome SMDE02335 Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. D019082 270400 818 Q87.1 C0175694|C2713347 9944 C0282643 Smith-Lemli-Opitz Syndrome, Type I 9945 C0282644 Smith-Lemli-Opitz Syndrome, Type II 9946 C0795864 Smith-Magenis syndrome SMDE04830 Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. D058496 182290 819 Q93.5 C1866927|C0795864 9947 C1846431 SMITH-MCCORT DYSPLASIA 9948 C3888088 SMITH-MCCORT DYSPLASIA 1 SMDE02114 607326 C3888088 9949 C3714896 SMITH-MCCORT DYSPLASIA 2 SMDE01586 615222 C3714896 9950 C3897042 Smoldering Systemic Mastocytosis 9951 C0206658 Smooth Muscle Tumor 9952 C0282492 Sneddon Syndrome SMDE03684 Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. D018860 182410 820 I77.8 C0282492 9953 C0037383 Sneezing 9954 C4748701 SNIJDERS BLOK-CAMPEAU SYNDROME 9955 C1860405 Snowflake vitreoretinal degeneration 9956 C3178803 Social Anhedonia 9957 C0150080 Social Communication Disorder 9958 C0337443 Sodium measurement 9959 C3150755 SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1 9960 C0037579 Soft Tissue Neoplasms 9961 C0280100 Solid Neoplasm 9962 C1266119 Solitary fibrous tumor 9963 C1840235 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SMDE02616 147250 C1840235 9964 C3806688 Solute carrier family 35 member A2 congenital disorder of glycosylation 9965 C0520482 Somatization Disorder 9966 C0037650 Somatoform Disorder 9967 C0202220 Somatomedin-C measurement 9968 C0752262 Somatosensory Disorders 9969 C3489630 Somatotrophinoma, Familial 9970 C0271561 Somatotropin deficiency 9971 C0175695 Sotos' syndrome 9972 C4551477 SOTOS SYNDROME 1 SMDE01608 117550 C0175695 9973 C0037763 Spasm dis_4118 9974 C0152116 Spasmodic torticollis 9975 C0037768 Spasmophilia 9976 C1527306 spasmus nutans 9977 C0443306 Spastic 9978 C3150925 SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE SMDE02922 613672 C3150925 9979 C3280977 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE SMDE02328 614487 C3280977 9980 C4479653 SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY 9981 C1849140 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE SMDE00608 270550 C1849140 9982 C0338596 Spastic cerebral palsy 9983 C0231687 Spastic gait dis_4122 9984 C0037772 Spastic Paraplegia dis_4125 9985 C1858712 Spastic paraplegia 10, autosomal dominant SMDE04575 604187 C1858712 9986 C1858479 Spastic paraplegia 11, autosomal recessive SMDE00619 604360 C1858479 9987 C1858106 SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder) 9988 C1854467 Spastic paraplegia 13, autosomal dominant SMDE03581 605280 C1854467 9989 C1854568 SPASTIC PARAPLEGIA 14, AUTOSOMAL RECESSIVE (disorder) 9990 C1849128 Spastic paraplegia 15, autosomal recessive SMDE04693 270700 C1849128 9991 C1846046 SPASTIC PARAPLEGIA 16, X-LINKED (disorder) 9992 C2931276 Spastic paraplegia 17 9993 C2749936 SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder) 9994 C1846685 SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT (disorder) 9995 C1839264 SPASTIC PARAPLEGIA 2, X-LINKED (disorder) 9996 C0796019 SPASTIC PARAPLEGIA 23 (disorder) 9997 C1843569 SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE (disorder) 9998 C2936860 Spastic paraplegia 25, autosomal recessive 9999 C1836632 SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder) 10000 C1836899 SPASTIC PARAPLEGIA 27, AUTOSOMAL RECESSIVE (disorder) 10001 C1836295 SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE (disorder) 10002 C1857855 SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT 10003 C2931355 Spastic paraplegia 3, autosomal dominant SMDE03506 182600 C2931355 10004 C1835896 SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 10005 C1853247 SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT SMDE01414 610250 C1853247 10006 C1970009 SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE 10007 C1853251 Spastic Paraplegia 33, Autosomal Dominant SMDE01859 610244 C1853251 10008 C2677897 SPASTIC PARAPLEGIA 34, X-LINKED (disorder) 10009 C2936879 SPASTIC PARAPLEGIA 36, AUTOSOMAL DOMINANT 10010 C2936880 SPASTIC PARAPLEGIA 37, AUTOSOMAL DOMINANT (disorder) 10011 C2676732 SPASTIC PARAPLEGIA 38, AUTOSOMAL DOMINANT (disorder) 10012 C2677586 Spastic Paraplegia 39, Autosomal Recessive SMDE03226 612020 C2677586 10013 C1866855 Spastic paraplegia 4, autosomal dominant SMDE03800 182601 C1866855 10014 C3888208 SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT 10015 C2675528 Spastic Paraplegia 42, Autosomal Dominant SMDE03276 612539 C2675528 10016 C2680446 SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE SMDE01996 615043 C2680446 10017 C2750784 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder) 10018 C3888209 SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE SMDE02514 613162 C3888209 10019 C2828721 SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE SMDE04030 614409 C2828721 10020 C3279738 SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE SMDE04562 614066 C3279738 10021 C3150901 SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE SMDE04123 613647 C3150901 10022 C3542549 SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE SMDE01263 615031 C3542549 10023 C3151056 SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE SMDE02404 613744 C3151056 10024 C3279743 SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE SMDE00487 614067 C3279743 10025 C3539494 SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE SMDE01115 614898 C3539494 10026 C3539495 SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE SMDE00977 615033 C3539495 10027 C3539506 SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 10028 C3539507 SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE SMDE03398 615030 C3539507 10029 C3714897 SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE SMDE04508 615658 C3714897 10030 C1849115 SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) 10031 C1838192 SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 10032 C3810294 SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE SMDE01701 615685 C3810294 10033 C4284588 SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE SMDE05138 615681 C4284588 10034 C3810295 SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE SMDE04806 615686 C3810295 10035 C3810289 SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE SMDE04411 615683 C3810289 10036 C1846564 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE SMDE03341 607259 C1846564 10037 C3810161 SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT 10038 C3810160 SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE SMDE00030 615625 C3810160|C3810161 10039 C4225387 SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT SMDE01791 616282 C4225387 10040 C4225322 SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE SMDE04689 616451 C4225322 10041 C4225250 SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE SMDE04096 616680 C4225250 10042 C4310800 SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE SMDE02814 616907 C4310800 10043 C4310750 SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 10044 C4310662 SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 10045 C3809665 SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE 10046 C1863704 Spastic paraplegia 8, autosomal dominant SMDE05080 603563 C1863704 10047 C1832669 SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 10048 C4225272 SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE SMDE01046 616586 C4225272 10049 C4225215 SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES SMDE01353 616756 C4225215 10050 C2931356 Spastic paraplegia type 5A, recessive 10051 C3711370 Spastic Paraplegia Type 7 10052 C0037773 Spastic Paraplegia, Hereditary 10053 C4284592 SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY 10054 C1836010 Spastic Paraplegia, Optic Atrophy, and Neuropathy SMDE03274 609541 C1836010 10055 C2752008 Spastic Paraplegia-50, Autosomal Recessive 10056 C0426970 Spastic Quadriplegia 10057 C0575059 Spastic tetraparesis dis_4126 10058 C4225254 SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY SMDE04901 616657 C4225254 10059 C4553743 Spasticity, CTCAE 10060 C0751497 Special Senses Disorders 10061 C0398593 Specific granule deficiency SMDE00721 245480 C0398593 10062 C4551556 SPECIFIC GRANULE DEFICIENCY 1 10063 C4479548 SPECIFIC GRANULE DEFICIENCY 2 10064 C0454651 Specific language impairment 10065 C3809483 SPECIFIC LANGUAGE IMPAIRMENT 5 10066 C0241210 Speech Delay 10067 C0037822 Speech Disorders 10068 C0233715 Speech impairment 10069 C3553793 SPERMATOGENIC FAILURE 10 SMDE01322 614822 C3553793 10070 C3554453 SPERMATOGENIC FAILURE 11 SMDE02387 615081 C3554453 10071 C3809427 SPERMATOGENIC FAILURE 12 SMDE01986 615413 C3809427 10072 C4014449 SPERMATOGENIC FAILURE 13 SMDE01799 615841 C4014449 10073 C4014454 SPERMATOGENIC FAILURE 14 SMDE00956 615842 C4014454 10074 C4310779 SPERMATOGENIC FAILURE 15 SMDE04813 616950 C4310779 10075 C4310674 SPERMATOGENIC FAILURE 16 10076 C4310666 SPERMATOGENIC FAILURE 17 10077 C4539783 SPERMATOGENIC FAILURE 18 10078 C4539818 SPERMATOGENIC FAILURE 19 10079 C4539824 SPERMATOGENIC FAILURE 20 10080 C4539991 SPERMATOGENIC FAILURE 21 10081 C4540179 SPERMATOGENIC FAILURE 22 10082 C4693784 SPERMATOGENIC FAILURE 27 10083 C4721889 SPERMATOGENIC FAILURE 3 SMDE01582 606766 C1847540 10084 C4748234 SPERMATOGENIC FAILURE 31 10085 C4748253 SPERMATOGENIC FAILURE 32 10086 C2751811 Spermatogenic Failure 7 SMDE02741 612997 C2751811 10087 C3151406 SPERMATOGENIC FAILURE 8 SMDE02824 613957 C3151406 10088 C3151407 SPERMATOGENIC FAILURE 9 SMDE02908 613958 C3151407 10089 C1839071 Spermatogenic Failure, Nonobstructive, Y-Linked 10090 C1839841 SPERMATOGENIC FAILURE, X-LINKED, 2 SMDE03215 309120 C1839841 10091 C1565951 Sphenoid Wing Meningioma 10092 C2674219 SPHEROCYTOSIS, HEREDITARY, 2 10093 C2674218 SPHEROCYTOSIS, TYPE 1 (disorder) 10094 C2678338 SPHEROCYTOSIS, TYPE 3 (disorder) 10095 C2675212 Spherocytosis, Type 4 SMDE02015 612653 C2675212 10096 C2675192 Spherocytosis, Type 5 SMDE01588 612690 C2675192 10097 C1866785 Spheroid body myopathy 10098 C0080178 Spina Bifida dis_4137 10099 C1960883 Spina bifida aperta of cervical spine 10100 C0037917 Spina Bifida Cystica 10101 C0917813 Spina Bifida, Open 10102 C0037928 Spinal Cord Diseases 10103 C0344479 Spinal Cord Myelodysplasia 10104 C0347515 Spinal Meningioma 10105 C0700595 Spinal Muscular Atrophies of Childhood 10106 C0026847 Spinal Muscular Atrophy dis_4143 DIS00748 10107 C2931844 Spinal muscular atrophy 4 10108 C4225177 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1 SMDE01060 616866 C4225177 10109 C4225176 SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 SMDE03321 616867 C4225176 10110 C1858517 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 10111 C4749434 Spinal muscular atrophy with respiratory distress type 2 10112 C1834690 Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant 10113 C1970211 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 SMDE01437 611067 C1970211 10114 C3553989 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5 SMDE01835 614881 C3553989 10115 C1838492 SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder) 10116 C1845359 Spinal Muscular Atrophy, Distal, X-Linked 3 SMDE02208 300489 C1845359 10117 C1854023 Spinal muscular atrophy, Jerash type 10118 C3554398 SPINAL MUSCULAR ATROPHY, JOKELA TYPE SMDE00392 615048 C3554398 10119 C1854058 SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE SMDE01338 182980 C1854058 10120 C4747715 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 10121 C4749003 SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT 10122 C1866777 Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant 10123 C1838230 SPINAL MUSCULAR ATROPHY, TYPE IV SMDE00155 271150 C1838230 10124 C1963674 Spinocerebellar Ataxia 10 SMDE02312 603516 C1963674 10125 C1858351 SPINOCEREBELLAR ATAXIA 11 SMDE02498 604432 C1858351 10126 C1858501 Spinocerebellar Ataxia 12 SMDE02872 604326 C1858501 10127 C1854488 Spinocerebellar ataxia 13 SMDE05077 605259 C1854488 10128 C1854369 Spinocerebellar ataxia 14 SMDE02283 605361 C1854369 10129 C1847725 SPINOCEREBELLAR ATAXIA 15 10130 C1846707 SPINOCEREBELLAR ATAXIA 17 SMDE02043 607136 C1846707 10131 C1843884 SPINOCEREBELLAR ATAXIA 18 10132 C1846367 Spinocerebellar ataxia 19 SMDE00138 607346 C1846367|C2746067 10133 C1837541 SPINOCEREBELLAR ATAXIA 20 10134 C1843891 SPINOCEREBELLAR ATAXIA 21 SMDE04528 607454 C1843891 10135 C1853250 SPINOCEREBELLAR ATAXIA 23 SMDE02571 610245 C1853250 10136 C1837518 Spinocerebellar ataxia 25 10137 C1836395 SPINOCEREBELLAR ATAXIA 26 SMDE00971 609306 C1836395 10138 C1836383 SPINOCEREBELLAR ATAXIA 27 SMDE02674 609307 C1836383 10139 C1853249 SPINOCEREBELLAR ATAXIA 28 SMDE03902 610246 C1853249 10140 C1861732 SPINOCEREBELLAR ATAXIA 29 10141 C2936793 Spinocerebellar ataxia 30 10142 C1861736 SPINOCEREBELLAR ATAXIA 31 (disorder) 10143 C3888031 SPINOCEREBELLAR ATAXIA 35 SMDE03673 613908 C3888031 10144 C3472711 Spinocerebellar ataxia 36 SMDE04126 614153 C3472711 10145 C3889636 SPINOCEREBELLAR ATAXIA 37 10146 C4225158 SPINOCEREBELLAR ATAXIA 41 SMDE00973 616410 C4225158 10147 C4225205 SPINOCEREBELLAR ATAXIA 42 SMDE01053 616795 C4225205 10148 C4748120 SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS 10149 C4310763 SPINOCEREBELLAR ATAXIA 43 10150 C4521563 SPINOCEREBELLAR ATAXIA 44 10151 C4540400 SPINOCEREBELLAR ATAXIA 45 10152 C4540404 SPINOCEREBELLAR ATAXIA 46 10153 C4693672 SPINOCEREBELLAR ATAXIA 47 10154 C1837454 SPINOCEREBELLAR ATAXIA 8 SMDE02143 608768 C1837454 10155 C0752120 Spinocerebellar Ataxia Type 1 10156 C0752121 Spinocerebellar Ataxia Type 2 10157 C4518337 Spinocerebellar ataxia type 38 10158 C0752122 Spinocerebellar Ataxia Type 4 10159 C4518336 Spinocerebellar ataxia type 40 10160 C0752123 Spinocerebellar Ataxia Type 5 SMDE05062 Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. 600224 98766 G11.2 C0752123 10161 C0752124 Spinocerebellar Ataxia Type 6 (disorder) 10162 C0752125 Spinocerebellar Ataxia Type 7 10163 C1843852 SPINOCEREBELLAR ATAXIA WITH EPILEPSY 10164 C1853761 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 SMDE00965 606002 C1853761 10165 C3150998 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 SMDE04102 613728 C3150998 10166 C3280226 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11 SMDE03430 614229 C3280226 10167 C3280452 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 SMDE00128 614322 C3280452 10168 C3553816 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 SMDE00652 614831 C3553816 10169 C3809327 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 SMDE04218 615386 C3809327 10170 C3810326 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 SMDE04732 615705 C3810326 10171 C4014261 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 SMDE00732 615768 C4014261 10172 C4015301 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 SMDE00023 616127 C4015301 10173 C4015505 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 SMDE01027 616204 C4015505 10174 C1859298 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 SMDE01519 213200 C1859298 10175 C4225355 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 SMDE01284 616354 C4225355 10176 C4225236 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 SMDE00262 616719 C4225236 10177 C4310781 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22 SMDE03680 616948 C4310781 10178 C4310780 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 SMDE02691 616949 C4310780 10179 C4310699 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 10180 C4539808 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 10181 C4539948 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26 10182 C1849094 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 10183 C1846492 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 10184 C1847114 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 10185 C1836474 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 10186 C1853116 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) 10187 C2677589 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 10188 C1846574 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY SMDE05029 607250 C1846574 10189 C0796205 SPINOCEREBELLAR ATAXIA, X-LINKED 1 10190 C0037952 Spinocerebellar Degeneration 10191 C0037997 Splenic Diseases 10192 C0685889 Splenic Hypoplasia 10193 C0037999 Splenic Neoplasms 10194 C0038002 Splenomegaly dis_4149 10195 C2931019 Split hand foot deformity 1 10196 C4225167 SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY 10197 C1838652 SPLIT-HAND/FOOT MALFORMATION 3 10198 C1854442 SPLIT-HAND/FOOT MALFORMATION 4 SMDE04870 605289 C1854442 10199 C2749665 SPLIT-HAND/FOOT MALFORMATION 6 (disorder) 10200 C1861553 Split-Hand-Foot Malformation With Long Bone Deficiency 1 10201 C1857344 Split-Hand-Foot Malformation With Sensorineural Hearing Loss 10202 C0949690 Spondylarthritis 10203 C1848934 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME SMDE04716 272460 C1848934 10204 C2676510 Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like SMDE04351 612350 C2676510 10205 C4017128 SPONDYLOCOSTAL DYSOSTOSIS 4 10206 C3150942 SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE SMDE04961 613686 C3150942 10207 C4083048 SPONDYLOCOSTAL DYSOSTOSIS 5 SMDE02528 122600 C4083048 10208 C4225279 SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE SMDE00091 616566 C4225279 10209 C1837549 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 10210 C1853296 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 10211 C0432222 Spondyloenchondrodysplasia 10212 C1842763 SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION SMDE01593 607944 C1842763 10213 C1866507 Spondyloepimetaphyseal Dysplasia With Abnormal Dentition 10214 C0432243 Spondyloepimetaphyseal Dysplasia With Joint Laxity SMDE00488 271640 93359 Q77.7 C0432243 10215 C1863732 Spondyloepimetaphyseal dysplasia with multiple dislocations SMDE01539 C535784 603546 93360 Q77.7 C1863732 10216 C2748544 Spondyloepimetaphyseal Dysplasia, Aggrecan Type SMDE04238 Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. 612813 171866 Q77.7 C2748544 10217 C4693799 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE 10218 C4225232 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE SMDE01079 616723 C4225232 10219 C1864872 Spondyloepimetaphyseal dysplasia, Genevieve type SMDE00996 610442 C1864872 10220 C4748455 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE 10221 C1837481 Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related SMDE03005 608728 C1837481 10222 C1865832 Spondyloepimetaphyseal Dysplasia, Missouri Type SMDE05008 Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. 602111 93356 Q77.7 C2748495|C1865832 10223 C2748515 Spondyloepimetaphyseal Dysplasia, Pakistani Type 10224 C1865185 Spondyloepimetaphyseal Dysplasia, Shohat Type 10225 C1300260 Spondyloepimetaphyseal dysplasia, sponastrime type 10226 C1848097 Spondyloepimetaphyseal Dysplasia, X-Linked SMDE02408 300106 C1848097 10227 C0038015 Spondyloepiphyseal Dysplasia dis_4151 10228 C3541456 Spondyloepiphyseal Dysplasia Tarda, X-Linked SMDE00785 313400 C3541456 10229 C2745959 Spondyloepiphyseal dysplasia, congenita 10230 C1842149 Spondyloepiphyseal Dysplasia, Kimberley Type SMDE03541 Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. 608361 93283 Q77.7 C1842149 10231 C3159322 SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE SMDE03139 184095 C3159322 10232 C1837657 Spondyloepiphyseal dysplasia, Omani type 10233 C4225273 SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE SMDE02204 616583 C4225273 10234 C2750066 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia SMDE04926 613330 C2750066 10235 C1849011 SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE SMDE03967 271665 C1849011 10236 C1837073 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy SMDE00876 608940 C1837073 10237 C2745953 Spondylometaphyseal dysplasia with dentinogenesis imperfecta 10238 C1866688 Spondylometaphyseal dysplasia, Algerian type 10239 C1865695 Spondylometaphyseal dysplasia, axial 10240 C0432221 Spondylometaphyseal dysplasia, 'corner fracture' type SMDE01336 Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). C535793 184255 93315 Q77.8 C0432221 10241 C0265280 Spondylometaphyseal dysplasia, Kozlowski type SMDE01277 Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. C535797 184252 93314 Q77.8 C0265280 10242 C1855229 Spondylometaphyseal dysplasia, Sedaghatian type SMDE04452 Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the C535798 250220 93317 Q77.8 C1855229 10243 C4225412 Spondylo-ocular syndrome SMDE04682 Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. 605822 85194 Q87.5 C1853925 10244 C1853925 Spondyloocular Syndrome, Autosomal Recessive 10245 C0796173 Spondyloperipheral dysplasia short ulna 10246 C1847650 SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES SMDE01713 606688 C1847650 10247 C0334584 Spongioblastoma 10248 C0000786 Spontaneous abortion dis_4156 10249 C0271384 Spontaneous Ocular Nystagmus 10250 C0149781 Spontaneous pneumothorax dis_4160 10251 C1336076 Sporadic Breast Carcinoma 10252 C0338582 Sporadic Cerebral Amyloid Angiopathy 10253 C0751484 Sporadic Retinoblastoma 10254 C0007137 Squamous cell carcinoma dis_4163 DIS00749 10255 C0279626 Squamous cell carcinoma of esophagus dis_4165 SMDE00116 10256 C0280302 Squamous cell carcinoma of lip 10257 C0149782 Squamous cell carcinoma of lung 10258 C0585362 Squamous cell carcinoma of mouth 10259 C0280313 Squamous cell carcinoma of oropharynx 10260 C1168401 Squamous cell carcinoma of the head and neck 10261 C0280321 Squamous cell carcinoma of the hypopharynx 10262 C0349566 Squamous cell carcinoma of tongue 10263 C0206720 Squamous Cell Neoplasms 10264 C1536220 ST segment elevation myocardial infarction 10265 C0340288 Stable angina 10266 C1321872 Stage IV Skin Melanoma 10267 C0038131 Stammering 10268 C4479599 STANKIEWICZ-ISIDOR SYNDROME 10269 C1866656 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) 10270 C0038160 Staphylococcal Infections 10271 C1318973 Staphylococcus aureus infection 10272 C1855465 STARGARDT DISEASE 1 (disorder) 10273 C1838644 Stargardt disease 3 10274 C1863534 Stargardt disease 4 SMDE00319 603786 C1863534 10275 C0271093 Stargardt's disease 10276 C0038187 Starvation 10277 C0234378 Static Tremor 10278 C0038219 Status Dysraphicus 10279 C0038220 Status Epilepticus dis_4168 10280 C0751869 Status Epilepticus, Alcohol Withdrawal-Induced 10281 C0751522 Status Epilepticus, Subclinical 10282 C0338489 Status Migrainosus 10283 C0259771 Steatocystoma multiplex dis_4170 SMDE03193 10284 C2711227 Steatohepatitis 10285 C3554594 STEEL SYNDROME SMDE02252 615155 C3554594 10286 C0038271 Stereotyped Behavior 10287 C0038273 Stereotypic Movement Disorder 10288 C0038279 Sterility, Postpartum 10289 C4074771 Sterility, Reproductive 10290 C3266102 Steroid resistant nephrotic syndrome of childhood 10291 C2717836 Steroid Sulfatase Deficiency Disease 10292 C0403397 Steroid-resistant nephrotic syndrome dis_4172 10293 C0403396 Steroid-sensitive nephrotic syndrome 10294 C0038325 Stevens-Johnson Syndrome dis_4173 SMDE02635 10295 C3658302 Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum 10296 C0265253 Stickler syndrome (disorder) 10297 C2020284 Stickler syndrome, type 1 10298 C1861481 Stickler syndrome, type 3 10299 C1836080 Stickler Syndrome, Type I, Nonsyndromic Ocular SMDE02932 609508 C1836081|C1836080 10300 C1858084 STICKLER SYNDROME, TYPE II (disorder) 10301 C3279941 STICKLER SYNDROME, TYPE IV SMDE03891 614134 C3279941 10302 C3280342 STICKLER SYNDROME, TYPE V SMDE00922 614284 C3280342 10303 C1861456 Stiff Skin Syndrome SMDE03857 Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described. 184900|228020 2833 L98.8 C1861456 10304 C0085292 Stiff-Person Syndrome 10305 C4014722 STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET SMDE03148 615934 C4014722 10306 C1845530 Stocco dos Santos syndrome 10307 C0699791 Stomach Carcinoma 10308 C0038354 Stomach Diseases 10309 C0038356 Stomach Neoplasms dis_4182 10310 C0038362 Stomatitis dis_4183 DIS00751 10311 C0272048 stomatocytic anemia 10312 C1861455 STOMATOCYTOSIS I 10313 C0677598 Stomatocytosis Result 10314 C0038368 Stomatognathic Diseases 10315 C0243057 Stomatognathic System Abnormalities 10316 C1861451 Stormorken Syndrome 10317 C0206733 Strawberry nevus of skin 10318 C0155862 Streptococcal pneumonia 10319 C0038433 Streptozotocin Diabetes 10320 C0038441 Stress Disorders, Traumatic 10321 C2677794 Stress-induced polymorphic ventricular tachycardia 10322 C1836694 Striatal Degeneration, Autosomal Dominant 10323 C4310791 STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 SMDE04337 616922 C4310791 10324 C4707237 Striate palmoplantar keratoderma SMDE00544 Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed. 148700|607654|612908 50942 Q82.8 10325 C0270733 Striatonigral Degeneration 10326 C4310743 STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET 10327 C0795996 STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 10328 C1839022 Striatonigral Degeneration, Infantile, Mitochondrial 10329 C0038450 Stridor 10330 C0038457 Stromal Dystrophies, Corneal 10331 C0700216 Structural Clinical Interview for DSM-III 10332 C0700635 Strudwick syndrome 10333 C0206145 Stunned Myocardium 10334 C0085628 Stupor 10335 C0038505 Sturge-Weber Syndrome SMDE03750 Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. D013341 185300 3205 Q85.8 C0038505 10336 C0038506 Stuttering dis_4195 10337 C0454542 Stuttering, Acquired 10338 C0751527 Stuttering, Adult 10339 C0751528 Stuttering, Childhood 10340 C0751529 Stuttering, Developmental 10341 C3489627 Stuttering, Familial Persistent 1 10342 C0432240 Stuve-Wiedemann dysplasia 10343 C0796176 STUVE-WIEDEMANN SYNDROME 10344 C0340375 Subaortic stenosis 10345 C0038525 Subarachnoid Hemorrhage dis_4197 10346 C0751530 Subarachnoid Hemorrhage, Aneurysmal 10347 C0795688 Subarachnoid Hemorrhage, Intracranial 10348 C0472383 Subarachnoid Hemorrhage, Spontaneous 10349 C0235259 Subcapsular cataract 10350 C0271790 Subclinical hypothyroidism 10351 C0751112 Subclinical Seizure 10352 C1848201 Subcortical Band Heterotopia 10353 C0751014 Subcortical Infarction 10354 C0393561 Subcortical Vascular Dementia 10355 C0522624 Subcutaneous panniculitis-like T-cell lymphoma 10356 C0205768 Subependymal Giant Cell Astrocytoma 10357 C0729353 Subfertility 10358 C0341869 Subfertility, Female 10359 C0848676 Subfertility, Male 10360 C0432103 Submucous cleft of hard palate 10361 C4551487 Submucous cleft palate 10362 C0740858 Substance abuse problem 10363 C0038580 Substance Dependence 10364 C0038586 Substance Use Disorders 10365 C0038587 Substance Withdrawal Syndrome 10366 C0236969 Substance-Related Disorders DIS00756 10367 C0751511 Subwakefullness Syndrome 10368 C1835493 Succedaneous Teeth, Agenesis Of 10369 C0342777 Succinate-coenzyme Q reductase deficiency 10370 C0268631 succinic semialdehyde dehydrogenase deficiency SMDE00686 Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, 271980 22 E72.8 C0268631 10371 C0342792 Succinyl-CoA:3-oxoacid CoA transferase deficiency 10372 C1283620 Sucrase-isomaltase deficiency, congenital SMDE03372 222900 C1283620 10373 C1152136 sucrose-phosphate synthase activity 10374 C1720824 Sudden Cardiac Arrest 10375 C0085298 Sudden Cardiac Death dis_4212 10376 C4310663 SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED 10377 C4310664 SUDDEN CARDIAC FAILURE, INFANTILE 10378 C0011071 Sudden death dis_4214 10379 C0038644 Sudden infant death syndrome 10380 C1837371 Sudden Infant Death with Dysgenesis of the Testes Syndrome SMDE02374 608800 C1837371 10381 C0751408 Suffering, Physical 10382 C1720864 Sulfatidosis, Juvenile, Austin Type 10383 C0268624 Sulfite oxidase deficiency 10384 C2931746 Sulfocysteinuria SMDE02911 272300 C0268624|C2931746 10385 C2718304 Sulfoiduronate Sulfatase Deficiency 10386 C0038833 Superior Vena Cava Syndrome 10387 C0038834 Superior Vena Cava Thrombosis 10388 C4551863 Supranuclear Palsy, Progressive, 1 SMDE01568 601104 C0038868 10389 C1850077 Supranuclear Palsy, Progressive, 1, Atypical 10390 C0038874 Supratentorial Neoplasms 10391 C0003499 Supravalvular aortic stenosis SMDE00016 SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. D021921 185500 3193 Q25.3 C0003499|C2936909|C1305147 10392 C0039240 Supraventricular tachycardia dis_4221 10393 C4225246 SURF1-related Charcot-Marie-Tooth disease type 4 10394 C1968602 Surfactant Metabolism Dysfunction, Pulmonary, 1 SMDE01015 265120 C1968602 10395 C1970470 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) 10396 C1970456 Surfactant Metabolism Dysfunction, Pulmonary, 3 SMDE00093 610921 C1970456 10397 C2677877 Surfactant Metabolism Dysfunction, Pulmonary, 4 10398 C3280574 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 SMDE04882 614370 C3280574 10399 C1622434 Suxamethonium sensitivity 10400 C1862382 SVEINSSON CHORIORETINAL ATROPHY SMDE01481 108985 C1862382 10401 C0038987 Sweat Gland Neoplasms 10402 C4540299 SWEENEY-COX SYNDROME 10403 C0085077 Sweet Syndrome 10404 C0276357 Swine influenza 10405 C2936694 Swyer Syndrome 10406 C0271673 Symmetric Diabetic Proximal Motor Neuropathy 10407 C0406775 Symmetrical dyschromatosis of extremities 10408 C1861385 SYMPHALANGISM, PROXIMAL 10409 C3714899 SYMPHALANGISM, PROXIMAL, 1A SMDE01910 185800 C3714899 10410 C3809104 SYMPHALANGISM, PROXIMAL, 1B SMDE04299 615298 C3809104 10411 C4551826 Symphalangism-brachydactyly syndrome 10412 C0270854 Symptomatic Generalized Epilepsy 10413 C0393699 Symptomatic Infantile Spasms 10414 C0338479 Symptomatic Myoclonic Epilepsy 10415 C0271383 Symptomatic Nystagmus 10416 C0039070 Syncope dis_4228 10417 C0039075 Syndactyly 10418 C1859309 Syndactyly Cenani Lenz type 10419 C1836206 Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction SMDE02001 609432 C1836206 10420 C2699746 Syndactyly, type 2 10421 C1861380 Syndactyly, Type I 10422 C1861366 SYNDACTYLY, TYPE III SMDE00887 186100 C1861366 10423 C1861355 Syndactyly, Type IV SMDE04996 186200 C1861355 10424 C1861348 Syndactyly, type v SMDE00507 186300 C1861348 10425 C4755273 Syndromic multisystem autoimmune disease due to ITCH deficiency 10426 C4274085 Syndromic recessive X-linked ichthyosis 10427 C1861313 Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly 10428 C2931150 Synostotic Anterior Plagiocephaly 10429 C1833340 Synostotic Posterior Plagiocephaly 10430 C0410574 Synovial Hypertrophy dis_4230 10431 C0039101 synovial sarcoma dis_4231 10432 C0039103 Synovitis dis_4232 10433 C0263859 Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 10434 C1861303 SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 10435 C1842422 Synpolydactyly 2 SMDE02593 608180 C1842422 10436 C0406803 Syringocystadenoma Papilliferum 10437 C3280742 SYSTEMIC LUPUS ERYTHEMATOSUS 16 SMDE01650 614420 C3280742 10438 C2677096 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11 10439 C1301365 Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease 10440 C1384600 Systemic onset juvenile chronic arthritis 10441 C0036421 Systemic Scleroderma 10442 C0264939 Systemic Vasculitis 10443 C2931320 T cell immunodeficiency primary 10444 C0080203 Tachyarrhythmia 10445 C0039231 Tachycardia 10446 C0042514 Tachycardia, Ventricular 10447 C0751213 Tactile Allodynia 10448 C0750906 Tactile Amnesia 10449 C0039263 Takayasu Arteritis SMDE02643 Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. D013625 207600 3287 M31.4 C0039263 10450 C4225222 TAKENOUCHI-KOSAKI SYNDROME SMDE04338 616737 C4225222 10451 C0152237 Talipes Calcaneovalgus 10452 C0241240 Tall stature 10453 C0039292 Tangier Disease SMDE03915 Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. D013631 205400 31150 E78.6 C0039292 10454 C0751544 Tangier Disease Neuropathy 10455 C1839463 TARP syndrome SMDE04136 311900 C1839463 10456 C1861305 TARSAL-CARPAL COALITION SYNDROME SMDE01206 Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. C536943 186570|186400 1412 Q74.8 C1861305|C1861306 10457 C0234302 Taste Disorder, Anterior Tongue 10458 C0234319 Taste Disorder, Posterior Tongue 10459 C0234297 Taste Disorder, Primary 10460 C0234300 Taste Disorder, Primary, Bitter 10461 C0234299 Taste Disorder, Primary, Salt 10462 C0234298 Taste Disorder, Primary, Sweet 10463 C0234303 Taste Disorder, Secondary 10464 C0234306 Taste Disorder, Secondary, Bitter 10465 C0234305 Taste Disorder, Secondary, Salt 10466 C0234304 Taste Disorder, Secondary, Sweet 10467 C0039338 Taste Disorders 10468 C0240327 Taste, Metallic 10469 C4014545 Tatton Brown Rahman syndrome 10470 C0949664 Tauopathies 10471 C1956413 Taussig-Bing Anomaly 10472 C0039373 Tay-Sachs Disease SMDE00812 272800 C1848916|C2749283|C1848917|C1848913|C0039373|C1848915|C1848914 10473 C0268275 Tay-Sachs Disease, AB Variant 10474 C1848916 Tay-Sachs Disease, Variant B1 10475 C1866426 T-cell immunodeficiency, congenital alopecia and nail dystrophy 10476 C3553943 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS SMDE00029 614868 C3553943 10477 C4016913 T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC MALFORMATIONS 10478 C1955861 T-Cell Large Granular Lymphocyte Leukemia 10479 C0079772 T-Cell Lymphoma 10480 C2363142 T-Cell Prolymphocytic Leukemia 10481 C1843542 T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC 10482 C3809332 T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY SMDE01034 615387 C3809332 10483 C0796179 Teebi syndrome 10484 C0263402 Telangiectasia macularis eruptiva perstans 10485 C4551861 Telangiectasia, Hereditary Hemorrhagic, Type 1 10486 C3809710 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 SMDE00666 615506 C3809710 10487 C0039446 Telangiectasis 10488 C2678486 Temple-Baraitser Syndrome SMDE01449 611816 C2678486 10489 C1956391 Temporal Arteritis 10490 C0233796 Temporary Amnesia 10491 C0521753 Temporary Nystagmus 10492 C0039494 Temporomandibular Joint Disorders 10493 C1854466 Temtamy preaxial brachydactyly syndrome SMDE04509 605282 C1854466 10494 C1857512 Temtamy syndrome SMDE00141 Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. C536959 218340 1777 Q87.8 C1857512 10495 C4015710 TENORIO SYNDROME SMDE00145 616260 C4015710 10496 C0264558 Tension Pneumothorax 10497 C1855305 Ter Haar syndrome 10498 C0232910 Teratogenesis 10499 C1836326 Teratoid Tumor, Atypical 10500 C0039538 Teratoma 10501 C0403824 Teratozoospermia 10502 C1846129 Terminal Osseous Dysplasia and Pigmentary Defects 10503 C3809858 TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE SMDE02272 615542 C3809858 10504 C0039584 Testicular Diseases 10505 C0936016 Testicular Feminization 10506 C1336708 Testicular Germ Cell Tumor SMDE03866 273300 C0014145|C3463918|C0334517|C0238451|C1266158|C1336708|C0036631 10507 C0039590 Testicular Neoplasms 10508 C1504412 Testotoxicosis 10509 C0917812 Tetanilla 10510 C0039621 Tetany 10511 C0270224 Tetany, Neonatal 10512 C0080218 Tethered Cord Syndrome 10513 C2931216 Tetra-amelia autosomal recessive 10514 C2931218 Tetraamelia multiple malformations 10515 C4012268 TETRAAMELIA SYNDROME, AUTOSOMAL RECESSIVE SMDE04616 273395 C4012268 10516 C0039685 Tetralogy of Fallot SMDE00322 Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow trat, override of the ventricular septum by the aortic root, and right ventricular hypertrophy D013771 187500 3303 Q21.3 C0039685 10517 C0271979 Thalassemia Intermedia 10518 C0085578 Thalassemia Minor 10519 C0039743 Thanatophoric Dysplasia 10520 C1300257 Thanatophoric dysplasia, type 2 10521 C1868678 THANATOPHORIC DYSPLASIA, TYPE I (disorder) 10522 C4310715 THAUVIN-ROBINET-FAIVRE SYNDROME 10523 C0752261 Thermal Sensation Disorders 10524 C0039841 Thiamine Deficiency 10525 C3280866 THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) SMDE02412 614458 C3280866 10526 C0342287 Thiamine responsive megaloblastic anemia syndrome 10527 C0271972 Thiamine-responsive megaloblastic anemia 10528 C1562894 Thiel-Behnke corneal dystrophy 10529 C0403440 Thin basement membrane disease 10530 C1865017 Thin upper lip vermilion dis_4291 10531 C0342801 Thiopurine S methyltranferase deficiency 10532 C1868397 THIOUREA TASTING 10533 C3150939 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 10534 C0039978 Thoracic Diseases 10535 C0039981 Thoracic Neoplasms 10536 C0000821 Threatened abortion 10537 C2678312 Three M Syndrome 1 SMDE04078 273750 C1848862|C2678312 10538 C2752041 Three M Syndrome 2 SMDE03907 612921 C2752041 10539 C3280146 THREE M SYNDROME 3 SMDE01585 614205 C3280146 10540 C0423618 Throbbing Headache 10541 C0040015 Thrombasthenia 10542 C1861194 Thrombasthenia-Thrombocytopenia, Hereditary 10543 C3277671 THROMBOCYTHEMIA 1 SMDE03084 187950 C3277671 10544 C3275998 THROMBOCYTHEMIA 2 SMDE00500 601977 C3275998 10545 C3281125 THROMBOCYTHEMIA 3 SMDE03691 614521 C3281125 10546 C0040028 Thrombocythemia, Essential 10547 C0040034 Thrombocytopenia dis_4296 DIS00768 10548 C1839163 THROMBOCYTOPENIA 1 (disorder) 10549 C1861185 THROMBOCYTOPENIA 2 (disorder) 10550 C2678311 Thrombocytopenia 3 SMDE03966 273900 C2678311 10551 C2677608 Thrombocytopenia 4 SMDE00226 612004 C2677608 10552 C4015537 THROMBOCYTOPENIA 5 SMDE04895 616216 C4015537 10553 C4310789 THROMBOCYTOPENIA 6 SMDE02648 616937 C4310789 10554 C4479504 THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS 10555 C1839161 Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis 10556 C3550789 THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA SMDE04326 300367 C3550789 10557 C0175703 Thrombocytopenia-Absent Radius Syndrome SMDE01370 Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. 274000 3320 Q87.2 C0175703 10558 C0836924 Thrombocytosis 10559 C3489628 Thrombocytosis, Autosomal Dominant 10560 C0040038 Thromboembolism DIS00771 10561 C0398623 Thrombophilia 10562 C1861171 THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) 10563 C2751091 Thrombophilia Due To Elevated Histidine-Rich Glycoprotein 10564 C2751090 Thrombophilia Due To Histidine-Rich Glycoprotein Deficiency SMDE00151 613116 C2751090|C2751091 10565 C2676759 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE SMDE02724 612304 C2676759 10566 C3278211 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT SMDE04533 612336 C3278211 10567 C3281092 THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE SMDE01125 614514 C3281092 10568 C3160733 THROMBOPHILIA DUE TO THROMBIN DEFECT SMDE01546 188050 C0042487|C3160733|C1861172 10569 C3280976 Thrombophilia due to Thrombomodulin Defect SMDE01124 614486 C3280976 10570 C2676721 Thrombophilia, Familial, Due To Decreased Release Of Tissue Plasminogen Activator SMDE02603 612348 C2676722|C2676721 10571 C2584620 Thrombophilia, hereditary 10572 C2674321 Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 10573 C3502052 Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant 10574 C3502051 Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive 10575 C2749016 Thrombophilia, X-Linked, Due To Factor Ix Defect SMDE01360 300807 C3275410|C2749016 10576 C0040053 Thrombosis DIS00772 10577 C1527411 Thrombosis of retinal vein 10578 C0751848 Thrombotic Infarction, Middle Cerebral Artery 10579 C2717961 Thrombotic Microangiopathies 10580 C0398635 Thromboxane synthetase deficiency 10581 C0087086 Thrombus 10582 C0241391 Thumb absent 10583 C3278811 Thumb aplasia 10584 C0575897 Thumb deformity 10585 C0431886 Thumb in palm deformity 10586 C0205969 Thymic Carcinoma 10587 C1266101 Thymic epithelial tumor 10588 C0040100 Thymoma 10589 C3714644 Thymus Neoplasms 10590 C0749420 Thyroid Agenesis 10591 C0339143 Thyroid associated opthalmopathies 10592 C2931367 Thyroid cancer, follicular 10593 C4721429 THYROID CANCER, NONMEDULLARY, 1 SMDE04020 188550 C0238463|C3501844|C3501843 10594 C4225426 THYROID CANCER, NONMEDULLARY, 2 SMDE04093 188470 C4225426 10595 C4225293 THYROID CANCER, NONMEDULLARY, 4 10596 C4225292 THYROID CANCER, NONMEDULLARY, 5 10597 C0549473 Thyroid carcinoma 10598 C1863961 Thyroid Carcinoma With Thyrotoxicosis 10599 C0040128 Thyroid Diseases 10600 C1563716 Thyroid Dysgenesis 10601 C1848805 Thyroid Dyshormonogenesis 1 SMDE02556 274400 C1848805 10602 C0342194 Thyroid Dyshormonogenesis 3 SMDE01028 274700 C0342194 10603 C0342195 Thyroid Dyshormonogenesis 4 SMDE03927 274800 C0342195 10604 C0342196 Thyroid Dyshormonogenesis 5 SMDE00857 274900 C0342196 10605 C1846632 Thyroid Dyshormonogenesis 6 SMDE03375 607200 C1846632 10606 C0151468 Thyroid Gland Follicular Adenoma 10607 C1864761 Thyroid Hormone Metabolism, Abnormal SMDE00833 609698 C1864761 10608 C2940786 Thyroid Hormone Resistance Syndrome DIS00775 10609 C2937288 THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT SMDE03753 188570 C2937288 10610 C3489796 Thyroid Hormone Resistance, Generalized, Autosomal Recessive SMDE02522 274300 C3489796 10611 C1840364 THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY SMDE03895 145650 C1840364 10612 C0749424 Thyroid Hurthle Cell Carcinoma 10613 C0151516 Thyroid Hypoplasia SMDE03808 Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth. 218700|225250 95720 E03.1 C0151516 10614 C0040136 Thyroid Neoplasm 10615 C4722488 Thyroid Stimulating Hormone Resistance 10616 C0268446 Thyrotoxic periodic paralysis SMDE04925 Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. 613239|188580|614834 79102 G72.3 C0268446 10617 C2749982 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1 10618 C2750473 THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 10619 C0040156 Thyrotoxicosis 10620 C0346303 Thyrotroph adenoma 10621 C4082174 Thyrotropin deficiency, isolated 10622 C1848794 Thyrotropin, Biologically Inactive 10623 C3887992 THYROTROPIN-RELEASING HORMONE DEFICIENCY SMDE02550 275120 C3887992|C0220998 10624 C1861106 Thyrotropin-Releasing Hormone Resistance, Generalized 10625 C1836723 Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum 10626 C1861098 Tibia, Hypoplasia of, with Polydactyly 10627 C1450052 Tibial Muscular Dystrophy 10628 C1838244 TIBIAL MUSCULAR DYSTROPHY, TARDIVE SMDE04098 600334 C1450052|C1838244 10629 C0040188 Tic disorder 10630 C0338468 Tic Disorders, Vocal 10631 C0751898 Tic, Gestural 10632 C0751900 Tic, Motor 10633 C0751899 Tic, Transient 10634 C0751901 Tic, Vocal 10635 C0162700 Tick-Borne Diseases 10636 C0162699 Tick-Borne Infections 10637 C0391816 Tietz syndrome 10638 C1832916 Timothy syndrome SMDE02993 601005 C1832916 10639 C0040264 Tinnitus 10640 C0395959 Tinnitus of Vascular Origin 10641 C0521787 Tinnitus, Clicking 10642 C0521788 Tinnitus, Leudet 10643 C0155534 Tinnitus, Objective 10644 C0751556 Tinnitus, Spontaneous Oto-Acoustic Emission 10645 C0155533 Tinnitus, Subjective 10646 C0751557 Tinnitus, Tensor Palatini Induced 10647 C0751558 Tinnitus, Tensor Tympani Induced 10648 C2931322 T-Lymphocytopenia 10649 C0206744 T-Lymphocytopenia, Idiopathic CD4-Positive 10650 C4016492 TN POLYAGGLUTINATION SYNDROME, SOMATIC 10651 C0272137 Tn Syndrome 10652 C1275126 TNF receptor-associated periodic fever syndrome (TRAPS) 10653 C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) 10654 C0040332 Tobacco Dependence DIS00778 10655 C0234544 Todd Paralysis 10656 C2678045 TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS SMDE02896 300707 C2678045 10657 C1843761 TOENAIL DYSTROPHY, ISOLATED 10658 C0040411 Tongue Neoplasms 10659 C0494475 Tonic - clonic seizures 10660 C0270844 Tonic Seizures 10661 C0014549 Tonic-Clonic Epilepsy 10662 C0040427 Tooth Abnormalities 10663 C4083050 Tooth agenesis 10664 C3489529 Tooth Agenesis, Familial 10665 C1970291 Tooth Agenesis, Selective, 3 SMDE01577 604625 C1970291 10666 C1835492 TOOTH AGENESIS, SELECTIVE, 4 (disorder) 10667 C2751297 Tooth Agenesis, Selective, 6 10668 C4225231 TOOTH AGENESIS, SELECTIVE, 7 SMDE01362 616724 C4225231 10669 C4310730 TOOTH AGENESIS, SELECTIVE, 8 10670 C4310638 TOOTH AGENESIS, SELECTIVE, 9 10671 C1970757 Tooth Agenesis, Selective, X-Linked, 1 SMDE00523 313500 C1970757 10672 C0040435 Tooth Diseases 10673 C0040460 Toothache 10674 C1850155 TORG-WINCHESTER SYNDROME 10675 C1321489 Torre-Muir syndrome 10676 C0040479 Torsades de Pointes DIS00780 10677 C0040485 Torticollis 10678 C0426785 Torticollis, Intermittent 10679 C0349785 Torticollis, Psychogenic 10680 C4551904 Total Anomalous Pulmonary Venous Return 1 10681 C2713499 Total Hexosaminidase Deficiency 10682 C1836672 Total Hypotrichosis, Mari type 10683 C4049798 Total Respiratory System Resistance 10684 C0265246 Townes syndrome 10685 C4551481 TOWNES-BROCKS SYNDROME 1 10686 C4479534 TOWNES-BROCKS SYNDROME 2 10687 C0392622 Toxic effect of carbon tetrachloride 10688 C0274869 Toxic effect of heavy metal 10689 C0154659 Toxic Encephalitis 10690 C0014518 Toxic Epidermal Necrolysis 10691 C0600327 Toxic Shock Syndrome 10692 C0040588 Tracheoesophageal Fistula 10693 C1291329 Transaldolase Deficiency SMDE04670 Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. 606003 101028 E74.8 C1291329 10694 C0342701 Transcobalamin II deficiency SMDE03145 275350 C0342701 10695 C4016325 TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF 10696 C1851573 Transient bullous dermolysis of the newborn SMDE01175 Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. C536979 131705 79411 Q81.2 C1851573 10697 C0917805 Transient Cerebral Ischemia 10698 C0341934 Transient hypertension of pregnancy 10699 C3827793 Transient hypothyroxinaemia of prematurity 10700 C0393759 Transient Insomnia 10701 C0007787 Transient Ischemic Attack 10702 C1527335 Transient Ischemic Attack, Anterior Circulation 10703 C0751020 Transient Ischemic Attack, Vertebrobasilar Circulation 10704 C1860788 Transient Myeloproliferative Disorder of Down Syndrome 10705 C1300287 Transient neonatal hyperparathyroidism 10706 C1522512 Transient Situational Disturbance 10707 C0040702 Transient Tic Disorder 10708 C0279680 Transitional cell carcinoma of bladder 10709 C0334611 Transitional Meningioma 10710 C0040761 Transposition of Great Vessels 10711 C1837341 Transposition of the Great Arteries, Dextro-Looped 1 SMDE04832 608808 C1837341 10712 C4275067 Transthyretin related familial amyloid cardiomyopathy 10713 C3150983 TREACHER COLLINS SYNDROME 2 SMDE02837 613717 C3150983 10714 C0877578 Treatment related secondary malignancy 10715 C3544321 Treatment-resistant schizophrenia 10716 C0040822 Tremor dis_4357 10717 C1860861 TREMOR, HEREDITARY ESSENTIAL, 1 10718 C3539195 TREMOR, HEREDITARY ESSENTIAL, 4 SMDE01890 614782 C3539195 10719 C4225223 TREMOR, HEREDITARY ESSENTIAL, 5 SMDE01361 616736 C4225223 10720 C0235081 Tremor, Limb 10721 C0235082 Tremor, Muscle 10722 C0235843 Tremor, Neonatal 10723 C0235078 Tremor, Perioral 10724 C0750940 Tremor, Rubral 10725 C0751565 Tremor, Semirhythmic 10726 C4022537 Triangular tongue 10727 C0265333 Tricho-dento-osseous syndrome (disorder) 10728 C1857276 Trichohepatoenteric Syndrome 10729 C4551982 TRICHOHEPATOENTERIC SYNDROME 1 SMDE05189 222470 C1857276 10730 C3281289 TRICHOHEPATOENTERIC SYNDROME 2 SMDE03266 614602 C3281289 10731 C4748898 TRICHOHEPATONEURODEVELOPMENTAL SYNDROME 10732 C0854699 Trichomegaly SMDE04605 190330 C0854699 10733 C0432233 Trichorhinophalangeal dysplasia type I 10734 C1860823 Trichorhinophalangeal Syndrome, Type III SMDE03734 190351 C1860823 10735 C1313961 Trichorrhexis nodosa syndrome 10736 C4225344 TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE SMDE02566 616390 C4225344 10737 C4017171 TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE SMDE03553 616395 C4017171 10738 C4225420 TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE SMDE01396 300953 C4225420 10739 C4310785 TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE SMDE01110 616943 C4310785 10740 C0432267 Tricho-thiodystrophy disorder 10741 C1955934 Trichothiodystrophy Syndromes 10742 C4083251 Trichothiodystrophy, Nonphotosensitive 1 10743 C0040953 Trichotillomania SMDE03574 613229 C0040953 10744 C1969443 Trifunctional Protein Deficiency With Myopathy And Neuropathy 10745 C3714237 Trifunctional Protein Deficiency, Type 2 10746 C0040997 Trigeminal Neuralgia 10747 C0393786 Trigeminal Neuralgia, Idiopathic 10748 C0268238 Triglyceride storage disease with ichthyosis 10749 C0265535 Trigonocephaly 10750 C3280974 TRIGONOCEPHALY 2 SMDE03767 614485 C3280974 10751 C4229653 Trigonocephaly/metopic ridge 10752 C2608045 Trilateral Retinoblastoma 10753 C0342739 Trimethylaminuria SMDE04722 602079 C0342739 10754 C0398562 Triose phosphate isomerase deficiency 10755 C1860808 Triosephosphate Isomerase Deficiency SMDE01427 615512 C1860808 10756 C0241397 Triphalangeal thumb 10757 C3539878 Triple Negative Breast Neoplasms 10758 C0041105 Trismus 10759 C0041107 Trisomy 10760 C0432417 Trisomy 21, Meiotic Nondisjunction 10761 C0751081 Trisomy 21, Mitotic Nondisjunction 10762 C3714043 Trisomy Xq28 SMDE01685 Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown. C537723 300260|300815 1762 Q99.8 C1846058|C3714043 10763 C1842402 TROPICAL CALCIFIC PANCREATITIS SMDE03816 608189 C1842402 10764 C2350879 Tropical Eosinophilic Pneumonia 10765 C0393559 Troyer syndrome 10766 C0266361 True Hermaphroditism (disorder) 10767 C0041207 Truncus Arteriosus, Persistent 10768 C0041227 Trypanosomiasis DIS00793 10769 C0041296 Tuberculosis SMDE00390 DIS00794 Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency. D014376 607948 3389 C0041296 10770 C0041307 Tuberculosis, Bovine 10771 C0041327 Tuberculosis, Pulmonary 10772 C0041341 Tuberous Sclerosis 10773 C1854465 TUBEROUS SCLEROSIS 1 (disorder) 10774 C1860707 TUBEROUS SCLEROSIS 2 (disorder) 10775 C0410207 Tubular Aggregate Myopathy 10776 C0333768 Tubular aggregates 10777 C0346073 Tufted angioma of skin 10778 C0041364 Tumor Lysis Syndrome 10779 C1720811 Tumor of Rete Testis 10780 C3280492 TUMOR PREDISPOSITION SYNDROME SMDE04404 614327 C3280492 10781 C0263628 Tumoral calcinosis 10782 C1876187 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 10783 C4692564 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 10784 C4693863 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2 10785 C4693864 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 10786 C1864861 Tumoral Calcinosis, Normophosphatemic, Familial SMDE04229 610455 C1864861 10787 C0001618 Tumors of Adrenal Cortex 10788 C0265325 Turcot syndrome (disorder) 10789 C0041408 Turner Syndrome 10790 C0041409 Turner Syndrome, Male 10791 C1835664 TYLOSIS WITH ESOPHAGEAL CANCER SMDE02437 148500 C1835664 10792 C0994516 Type 1 Duane Retraction Syndrome 10793 C1336839 Type 1 Papillary Renal Cell Carcinoma 10794 C0268226 Type I Mucolipidosis 10795 C0020725 Type II Mucolipidosis 10796 C0267537 Typhlitis 10797 C0041466 Typhoid Fever 10798 C1969086 Tyrosine Kinase 2 Deficiency 10799 C0268487 Tyrosine Transaminase Deficiency Disease 10800 C0268490 Tyrosinemia, Type I SMDE02282 276700 C0268490 10801 C0268623 Tyrosinemia, Type III SMDE05149 276710 C0268623 10802 C0268483 Tyrosinemias 10803 C0751161 UDPglucose 4-epimerase deficiency disease 10804 C0041582 Ulcer SMDE05226 A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. D014456 C0041582 10805 C0009324 Ulcerative Colitis DIS00800 10806 C0410179 Ullrich congenital muscular dystrophy 1 SMDE00795 254090 C0410179 10807 C4225314 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 SMDE04333 616470 C4225314 10808 C1866994 Ulnar-mammary syndrome SMDE02665 181450 C1866994 10809 C0014558 Uncinate Epilepsy 10810 C0751113 Uncinate Seizures 10811 C0432347 Uncombable hair syndrome SMDE03292 Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. C536939 617252|617251|191480 1410 Q84.1 C0432347 10812 C4551573 UNCOMBABLE HAIR SYNDROME 1 SMDE01331 191480 C0432347 10813 C0041657 Unconscious State 10814 C0041667 Underweight 10815 C0205698 Undifferentiated carcinoma 10816 C0346167 Undifferentiated carcinoma of ovary 10817 C0856823 Undifferentiated type acute leukemia 10818 C0520806 Unexplained sudden death 10819 C0521755 Unidirectional Nystagmus 10820 C0266294 Unilateral agenesis of kidney 10821 C0431664 Unilateral Cryptorchidism 10822 C0751330 Unilateral Hypotonia 10823 C4547080 Unilateral lobar pulmonary agenesis 10824 C4082952 Unilateral lung agenesis 10825 C1567426 Unilateral Multicystic Dysplastic Kidney 10826 C2350170 Unilateral Nasal Obstruction 10827 C1842466 Uniparental disomy, paternal, chromosome 14 10828 C0041696 Unipolar Depression dis_4403 10829 C4237474 Unspecified neurodevelopmental disorder 10830 C0751785 Unverricht-Lundborg Syndrome 10831 C0887900 Upper Aerodigestive Tract Neoplasms 10832 C0751761 Upper Airway Resistance Sleep Apnea Syndrome 10833 C0749794 Upper Extremity Deformities, Congenital 10834 C0751409 Upper Extremity Paresis 10835 C0041912 Upper Respiratory Infections 10836 C0086541 Urban cutaneous leishmaniasis 10837 C0041948 Uremia 10838 C1456865 Ureteral Calculi 10839 C0041955 Ureteral Neoplasms 10840 C0041956 Ureteral obstruction 10841 C0265363 Urethral obstruction sequence 10842 C1841837 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 10843 C2675207 URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4 10844 C1849507 Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to SMDE01019 266120 C1849507 10845 C0005683 Urinary Bladder Calculi (disorder) 10846 C0005686 Urinary Bladder Diseases 10847 C0750953 Urinary Bladder Neurogenesis 10848 C0080274 Urinary Retention 10849 C0042029 Urinary tract infection DIS00805 10850 C0042035 Urination Disorders 10851 C0268514 Urocanase deficiency SMDE02187 276880 C0268514 10852 C3554520 UROFACIAL SYNDROME 2 SMDE00371 615112 C3554520 10853 C0042063 Urogenital Abnormalities 10854 C0451641 Urolithiasis 10855 C0042076 Urologic Neoplasms DIS00807 10856 C2145472 Urothelial Carcinoma 10857 C0042109 Urticaria 10858 C1846010 URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME 10859 C0271097 Usher Syndrome 10860 C0339534 Usher syndrome type 2 SMDE03247 611383|276901|605472 231178 H35.5 C0339534|C1568249 10861 C2931205 Usher syndrome, type 1A 10862 C2931206 Usher syndrome, type 1B 10863 C2931207 Usher syndrome, type 1C 10864 C2931208 Usher syndrome, type 1D 10865 C2931210 Usher syndrome, type 1F 10866 C2931213 Usher syndrome, type 2C 10867 C1568247 Usher Syndrome, Type I SMDE02988 276900 C1568247|C1848638|C1848639|C1848640 10868 C1848640 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 10869 C1848639 USHER SYNDROME, TYPE IA, FORMERLY 10870 C1848638 USHER SYNDROME, TYPE IB (disorder) 10871 C1848604 USHER SYNDROME, TYPE IC SMDE00243 276904 C1848604 10872 C1832845 USHER SYNDROME, TYPE ID SMDE01399 601067 C1832845|C3152102|C3275872 10873 C1865885 Usher Syndrome, Type IF SMDE00696 602083 C1865885 10874 C1847089 USHER SYNDROME, TYPE IG SMDE02675 606943 C1847089 10875 C1568249 Usher Syndrome, Type II 10876 C1848634 USHER SYNDROME, TYPE IIA SMDE03303 276901 C1848634 10877 C1568248 Usher Syndrome, Type III 10878 C3281066 USHER SYNDROME, TYPE IIIB SMDE01640 614504 C3281066 10879 C3553944 USHER SYNDROME, TYPE IJ SMDE00349 614869 C3553944 10880 C4748364 USHER SYNDROME, TYPE IV 10881 C4721509 Usual Interstitial Pneumonia 10882 C0153567 Uterine Cancer 10883 C0007873 Uterine Cervical Neoplasm 10884 C0042131 Uterine Diseases 10885 C0042133 Uterine Fibroids 10886 C3549860 Uterine leiomyosarcoma (less common) 10887 C0042138 Uterine Neoplasms 10888 C0220633 Uveal melanoma SMDE00178 Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis. C536494 606661|606660|155720 39044 C69.3 C0220633|C0346373|C0346388 10889 C0042164 Uveitis 10890 C0042170 Uveomeningoencephalitic Syndrome 10891 C4554007 Uveoretinal Coloboma 10892 C1833561 UV-Sensitive Syndrome 10893 C3551173 UV-SENSITIVE SYNDROME 1 SMDE00242 600630 C3551173 10894 C3553298 UV-SENSITIVE SYNDROME 2 SMDE02586 614621 C3553298 10895 C3553328 UV-SENSITIVE SYNDROME 3 SMDE03381 614640 C3553328 10896 C1735591 VACTERL Association 10897 C1848599 VACTERL Association With Hydrocephalus SMDE02539 276950 C1848599|C1848600|C2749240 10898 C4016468 VACTERL ASSOCIATION, X-LINKED 10899 C2931228 VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS SMDE00296 314390 C2931228 10900 C2931230 Vacuolar myopathy 10901 C0042258 Vaginal Neoplasms 10902 C0860029 Vaginal Yeast Infections 10903 C0432272 Van Buchem disease 10904 C1843323 Van Buchem disease type 2 10905 C0175697 Van der Woude syndrome SMDE00610 Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. C536528 604547|119300|606713 888 Q38.0 C0175697 10906 C4551864 VAN DER WOUDE SYNDROME 1 SMDE04768 119300 C0175697 10907 C1847604 Van der Woude syndrome 2 SMDE02594 606713 C1847604 10908 C4551950 VAN MALDERGEM SYNDROME 1 SMDE01622 601390 C1832390 10909 C3809875 VAN MALDERGEM SYNDROME 2 SMDE01885 615546 C3809875 10910 C1832390 Van Maldergem Wetzburger Verloes syndrome 10911 C0042345 Varicosity 10912 C0162532 Variegate Porphyria 10913 C0158570 Vascular anomaly 10914 C0342649 Vascular calcification 10915 C0393560 Vascular Dementia, Acute Onset 10916 C0042373 Vascular Diseases dis_4451 DIS00811 10917 C1847197 Vascular Malformation, Primary Intraosseous 10918 C3850148 Vascular Remodeling 10919 C0042384 Vasculitis 10920 C0042386 Vasculitis, Hemorrhagic 10921 C1860518 Vasculopathy, Retinal, With Cerebral Leukodystrophy SMDE04932 192315 C1860518 10922 C0750969 Vasogenic Brain Edema 10923 C0472387 Vasogenic Cerebral Edema 10924 C0751895 Vasospasm, Intracranial 10925 C0220708 VATER Association 10926 C1848600 Vater Association With Hydrocephalus 10927 C2749240 Vater Association With Macrocephaly And Ventriculomegaly 10928 C4225671 VATER/VACTERL ASSOCIATION SMDE04724 192350 C4225671 10929 C0431420 Vein of Galen aneurysm 10930 C0042484 Venous Engorgement 10931 C0751954 Venous Infarction, Brain 10932 C0265950 Venous malformation 10933 C1838437 VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL SMDE03884 600195 C1838437 10934 C1861172 Venous Thromboembolism DIS00818 10935 C0042487 Venous Thrombosis 10936 C4016042 VENOUS THROMBOSIS, SUSCEPTIBILITY TO 10937 C0019326 Ventral Hernia 10938 C0242973 Ventricular Dysfunction DIS00819 10939 C0242698 Ventricular Dysfunction, Left 10940 C0042510 Ventricular Fibrillation 10941 C4017668 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO 10942 C2751898 Ventricular Fibrillation, Paroxysmal Familial, 1 SMDE01365 603829 C2751898|C4017668 10943 C0042512 Ventricular Outflow Obstruction 10944 C0023213 Ventricular Outflow Obstruction, Left 10945 C0035619 Ventricular Outflow Obstruction, Right 10946 C0600519 Ventricular Remodeling 10947 C3280777 VENTRICULAR SEPTAL DEFECT 1 SMDE04839 614429 C3280777 10948 C3280783 VENTRICULAR SEPTAL DEFECT 2 SMDE00067 614431 C3280783 10949 C3280785 VENTRICULAR SEPTAL DEFECT 3 SMDE01442 614432 C3280785 10950 C0018818 Ventricular Septal Defects 10951 C1631597 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 10952 C3151463 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 SMDE01128 614021 C3151463 10953 C3554047 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 SMDE00334 614916 C3554047 10954 C3809536 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS SMDE04800 615441 C3809536 10955 C0424068 Verbal auditory hallucinations 10956 C0751514 Verbal Fluency Disorders 10957 C3810023 VERHEIJ SYNDROME SMDE04976 615583 C3810023 10958 C1832594 Verloes Bourguignon syndrome 10959 C4313693 Vermis hypoplasia 10960 C0362030 Verrucous epidermal nevus 10961 C4748741 VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION 10962 C0338586 Vertebral Artery Dissection 10963 C4540004 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 10964 C4540014 VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 10965 C0750949 Vertebrogenic Pain Syndrome 10966 C0751192 Vertex Headache 10967 C0271386 Vertical Nystagmus 10968 C0240912 Vertical Talus 10969 C0422855 Vertiginous seizure 10970 C4693824 VERVERI-BRADY SYNDROME 10971 C3887523 Very long chain acyl-CoA dehydrogenase deficiency 10972 C0042580 Vesico-Ureteral Reflux 10973 C4551858 Vesicoureteral Reflux 1 10974 C1970483 Vesicoureteral Reflux 2 SMDE03937 610878 C1970483 10975 C3150927 VESICOURETERAL REFLUX 3 SMDE04106 613674 C3150927 10976 C4014831 VESICOURETERAL REFLUX 8 SMDE04435 615963 C4014831 10977 C0266999 Vesicular Stomatitis 10978 C0042594 Vestibular Diseases 10979 C0473546 Vibratory angioedema 10980 C0157743 Vibratory urticaria SMDE00908 125630 C0157743|C0473546|C1852146 10981 C0011993 Vipoma 10982 C0243010 Viral Encephalitis 10983 C0042749 Viremia 10984 C0042769 Virus Diseases 10985 C0042781 Visceral Myopathy 10986 C1848586 Visceral myopathy familial external ophthalmoplegia 10987 C0266833 Visceral Myopathy, Familial 10988 C3489704 Vision Disability 10989 C0042790 Vision Disorders 10990 C0234398 Visual Cortex Disorder 10991 C3665347 Visual Impairment 10992 C4748978 VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI 10993 C0270824 Visual seizure 10994 C0042842 Vitamin A Deficiency DIS00827 10995 C0042847 Vitamin B 12 Deficiency 10996 C2674252 VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1 10997 C0042870 Vitamin D Deficiency DIS00830 10998 C1838657 Vitamin D Hydroxylation-Deficient Rickets, Type 1B SMDE02590 600081 C1838657 10999 C0268689 Vitamin D-dependent rickets, type 1 11000 C0342646 Vitamin D-Dependent Rickets, Type 2A SMDE00602 277440 C0342646|C3536983 11001 C3536984 Vitamin D-Resistant Rickets, X-Linked 11002 C0042875 Vitamin E Deficiency 11003 C1848534 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 SMDE00863 277450 C1848534 11004 C1843832 VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 SMDE02334 607473 C1843832 11005 C0339510 Vitelliform Macular Dystrophy 11006 C0042900 Vitiligo SMDE05218 A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. D014820 C0042900 11007 C1847835 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 11008 C3277701 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 11009 C0344290 Vitreoretinal degeneration 11010 C1852989 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 11011 C1858805 Vohwinkel Syndrome, Variant Form SMDE00682 604117 C1858805 11012 C0042963 Vomiting DIS00831 11013 C0019562 Von Hippel-Lindau Syndrome SMDE03468 193300 C0019562|C2674004 11014 C1282974 von Willebrand disease type 2M 11015 C1280798 Von Willebrand disease, platelet type 11016 C1264039 von Willebrand Disease, Type 1 SMDE02982 193400 C1264039 11017 C1264040 von Willebrand Disease, Type 2 SMDE02199 613554 C1282974|C1264040|C1282975|C1282968|C1282971 11018 C1282968 von Willebrand Disease, Type 2A 11019 C1282971 von Willebrand Disease, Type 2B 11020 C1282975 von Willebrand Disease, Type 2N 11021 C1264041 von Willebrand Disease, Type 3 SMDE01199 277480 C1264041 11022 C0022783 Vulvar Lichen Sclerosus 11023 C0599973 Waardenburg Anophthalmia Syndrome 11024 C3266898 Waardenburg Syndrome 11025 C1847800 Waardenburg Syndrome Type 1 SMDE04819 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. 193500 894 E70.3 C1847800 11026 C2700265 Waardenburg Syndrome Type 2 SMDE01821 Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. C536463 193510|600193|608890|606662|611584 895 E70.3 C2700265 11027 C1848519 WAARDENBURG SYNDROME, TYPE 4A SMDE03366 277580 C1848519 11028 C2750457 Waardenburg Syndrome, Type 4b SMDE00335 613265 C2750457 11029 C2750452 Waardenburg Syndrome, Type 4c SMDE03605 613266 C2750452 11030 C1860339 WAARDENBURG SYNDROME, TYPE IIA 11031 C1837203 WAARDENBURG SYNDROME, TYPE IID 11032 C2700405 WAARDENBURG SYNDROME, TYPE IIE 11033 C0231712 Waddling gait 11034 C0206115 WAGR Syndrome SMDE01632 WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. C538295|D017624 194072|612469 893 Q87.8 C2931803|C0206115 11035 C0796195 Waisman syndrome 11036 C0024419 Waldenstrom Macroglobulinemia 11037 C0265221 Walker-Warburg congenital muscular dystrophy 11038 C0043020 Wallerian Degeneration 11039 C3280214 WARBURG MICRO SYNDROME 2 SMDE04395 614225 C3280214 11040 C3280203 WARBURG MICRO SYNDROME 3 SMDE03760 614222 C3280203 11041 C3810265 WARBURG MICRO SYNDROME 4 SMDE04382 615663 C3810265 11042 C1838625 Warburg Sjo Fledelius syndrome 11043 C2931286 Warburton Anyane Yeboa syndrome 11044 C2608079 WARFARIN SENSITIVITY (disorder) 11045 C3150658 WARSAW BREAKAGE SYNDROME SMDE02486 613398 C3150658 11046 C0043049 Water Intoxication 11047 C1136135 Water Stress 11048 C0233612 Waxy flexibility 11049 C0265210 Weaver syndrome SMDE02795 Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. C536687 277590 3447 Q87.3 C0265210|C0220765 11050 C4014708 WEBB-DATTANI SYNDROME SMDE05142 615926 C4014708 11051 C0080333 Weber-Cockayne Syndrome 11052 C1868476 Wegener-Like Granulomatosis 11053 C1262477 Weight decreased 11054 C0043094 Weight Gain 11055 C0265313 Weill-Marchesani syndrome SMDE04917 Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. D056846 608328|277600|614819 3449 Q87.0 C0265313 11056 C4552002 WEILL-MARCHESANI SYNDROME 1 SMDE03047 277600 C1869114 11057 C3553785 WEILL-MARCHESANI SYNDROME 3 SMDE02595 614819 C3553785 11058 C1869115 Weill-Marchesani Syndrome, Autosomal Dominant 11059 C1869114 Weill-Marchesani Syndrome, Autosomal Recessive 11060 C2750787 Weill-Marchesani-Like Syndrome SMDE03467 613195 C2750787 11061 C0221054 Welander Distal Myopathy SMDE01392 604454 C0221054 11062 C2931290 Welander distal myopathy, Swedish type 11063 C0751396 Well Differentiated Oligodendroglioma 11064 C0043119 Werner Syndrome SMDE00167 Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. D014898 277700 902 E34.8 C0043119 11065 C0043121 Wernicke Encephalopathy 11066 C0349464 Wernicke-Korsakoff Syndrome 11067 C0043124 West Nile Fever 11068 C0751584 West Nile Fever Meningitis 11069 C0751585 West Nile Fever Meningoencephalitis 11070 C0751586 West Nile Fever Myelitis 11071 C0037769 West Syndrome 11072 C0457013 Weyers acrofacial dysostosis SMDE02836 193530 C0457013 11073 C0043144 Wheezing 11074 C0472817 WHIM syndrome SMDE03167 193670 C0472817 11075 C1860315 Whispering dysphonia, hereditary 11076 C4011926 WHITE SPONGE NEVUS 1 SMDE04541 193900 C1721005|C4011926 11077 C4014321 WHITE SPONGE NEVUS 2 SMDE01942 615785 C4014321 11078 C4225351 White Sutton syndrome 11079 C3178789 Widespread Chronic Pain 11080 C0796200 Wieacker-Wolff syndrome 11081 C0406586 Wiedemann-Rautenstrauch syndrome 11082 C0265239 Wildervanck's syndrome 11083 C0175702 Williams Syndrome SMDE03277 Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) D018980 194050 904 Q87.8 C0175702 11084 C3887743 WILMS TUMOR 2 SMDE00515 194071 C3887743 11085 C1832099 Wilms tumor and radial bilateral aplasia 11086 C3891301 WILMS TUMOR, SUSCEPTIBILITY TO 11087 C1839736 WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME SMDE02033 309585 C1839736 11088 C0432289 Winchester syndrome (disorder) 11089 C0795915 Winter Shortland Temple syndrome 11090 C0043194 Wiskott-Aldrich Syndrome SMDE01936 Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. D014923 301000|277970|614493|600903 906 D82.0 C0043194 11091 C3281001 WISKOTT-ALDRICH SYNDROME 2 SMDE02751 614493 C3281001 11092 C0087169 Withdrawal Symptoms 11093 C4310804 WITTEVEEN-KOLK SYNDROME SMDE01611 613406 C4310804|C3150674|C3150675 11094 C0796202 Wittwer syndrome 11095 C0432217 Wolcott-Rallison syndrome SMDE03831 Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. C536739 226980 1667 E13 C0432217 11096 C0043202 Wolff-Parkinson-White Syndrome SMDE01703 194200 C0032915|C0043202|C0264897 11097 C1956097 Wolf-Hirschhorn Syndrome SMDE01962 Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. C536740|D054877 194190 280 Q93.3 C0796202|C1956097|C0796117 11098 C0043207 Wolfram Syndrome SMDE04672 Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). D014929 604928|598500|222300 3463 E13.8 C0043207 11099 C4551693 Wolfram Syndrome 1 SMDE04500 222300 C0043207 11100 C1858028 WOLFRAM SYNDROME 2 SMDE04037 604928 C1858028 11101 C4518338 Wolfram-like syndrome SMDE03408 Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. 614296 411590 E13.8 C3280358 11102 C3280358 Wolfram-Like Syndrome, Autosomal Dominant SMDE05190 614296 C3280358 11103 C0043208 Wolman Disease SMDE03840 Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease (see this term). The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. D015223 278000 75233 E75.5 C0043208 11104 C0342286 Woodhouse Sakati syndrome 11105 C0343114 Woolly hair nevus 11106 C1860238 WOOLLY HAIR, AUTOSOMAL DOMINANT SMDE02264 194300 C1860238 11107 C3502073 Woolly Hair, Autosomal Recessive 11108 C4225214 WOOLLY HAIR, AUTOSOMAL RECESSIVE 3 SMDE02396 616760 C4225214 11109 C0345427 Woolly hair, congenital 11110 C0343073 Wooly hair 11111 C0432273 Worth disease 11112 C0406587 Wrinkly skin syndrome SMDE00817 278250 C0406587 11113 C4316810 Writer's Cramp 11114 C1848138 X INACTIVATION, FAMILIAL SKEWED, 1 (disorder) 11115 C0268118 Xanthinuria, Type I SMDE04549 278300 C0268118 11116 C1863688 Xanthinuria, Type II 11117 C0302314 Xanthoma 11118 C0043325 Xanthomatosis 11119 C0238052 Xanthomatosis, Cerebrotendinous 11120 C0457190 Xanthomatous Meningioma 11121 C0272051 Xerocytosis 11122 C0043345 Xeroderma 11123 C0043346 Xeroderma Pigmentosum SMDE01076 Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms). D01 278730|610651|194400|278700|278780|278760 910 C0043346 11124 C2752147 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C SMDE01766 278720 C2752147 11125 C0268138 Xeroderma Pigmentosum, Complementation Group D SMDE02852 278730 C0268138 11126 C1848411 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E SMDE02240 278740 C1848411 11127 C0268135 Xeroderma pigmentosum, group A 11128 C0268136 Xeroderma pigmentosum, group B 11129 C0268140 Xeroderma pigmentosum, group F 11130 C0268141 Xeroderma pigmentosum, group G 11131 C0432328 Xeroderma pigmentosum, variant form 11132 C1848410 Xeroderma pigmentosum, variant type SMDE02565 278750 C1848410 11133 C0271271 Xerotic keratitis 11134 C1970416 XFE Progeroid Syndrome SMDE04852 610965 C1970416 11135 C0342482 X-linked Adrenal Hypoplasia 11136 C0221026 X-linked agammaglobulinemia SMDE00722 X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy. C537409 300755|300310 47 D80.0 C0221026 11137 C0472813 X-linked agammaglobulinemia with growth hormone deficiency 11138 C0410203 X-linked centronuclear myopathy SMDE01873 X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. C538647 310400 596 G71.2 C0410203 11139 C3669395 X-Linked Chondrodysplasia Punctata 1 11140 C4707825 X-linked cleft palate and ankyloglossia 11141 C1279481 X-Linked Combined Immunodeficiency Diseases 11142 C3711543 X-Linked Csnb 11143 C1844654 X-linked Dyggve-Melchior-Clausen syndrome 11144 C1148551 X-Linked Dyskeratosis Congenita 11145 C0751337 X-Linked Emery-Dreifuss Muscular Dystrophy 11146 C4304400 X-linked hereditary sensory and autonomic neuropathy with deafness 11147 C0265216 X-linked hydrocephalus syndrome 11148 C3275445 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 11149 C4552072 X-linked infantile spasms 11150 C1848199 X-Linked Lissencephaly 11151 C0549463 X-Linked Lymphoproliferative Disorder 11152 C1839615 X-linked myopathy with excessive autophagy 11153 C4707849 X-linked non progressive cerebellar ataxia 11154 C0403720 X-linked recessive nephrolithiasis with renal failure 11155 C0339528 X-linked retinitis pigmentosa 11156 C4551511 X-linked sideroblastic anemia SMDE01527 X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid. C536761 300751 75563 D64.0 11157 C0751605 X-Linked, Spastic Paraplegia, Hereditary 11158 C4505291 Xp21 Contiguous Gene Deletion Syndrome 11159 C4311049 Xq25 DUPLICATION SYNDROME 11160 C4310830 Xq25 TRIPLICATION SYNDROME 11161 C0432475 XX males 11162 C4750849 XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 11163 C4310620 Yao syndrome 11164 C1866425 Yemenite deaf-blind hypopigmentation syndrome 11165 C2931296 Yorifuji Okuno syndrome 11166 C4310778 YOU-HOOVER-FONG SYNDROME 11167 C1863557 Young Simpson syndrome 11168 C4225255 YUAN-HAREL-LUPSKI SYNDROME 11169 C1857663 Yunis Varon syndrome 11170 C2931299 ZAP70 deficiency 11171 C0270969 Zebra body myopathy SMDE00799 Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved. 97240 G71.2 C0270969 11172 C3658299 Zellweger Spectrum 11173 C0043459 Zellweger Syndrome SMDE02560 Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. 614887|617370|614883|214110|614872|614876|614886|614870 912 C0043459 11174 C0751594 Zellweger-Like Syndrome 11175 C4310696 Zhu-Tokita-Takenouchi-Kim syndrome 11176 C0796013 Zimmerman Laband syndrome 11177 C4551773 ZIMMERMANN-LABAND SYNDROME 1 SMDE01002 135500 C0796013 11178 C4225321 ZIMMERMANN-LABAND SYNDROME 2 SMDE01848 616455 C4225321 11179 C1842486 Zinc Deficiency, Neonatal, due to Low Breast Milk Zinc 11180 C2931488 Zlotogora-Ogur syndrome SMDE01436 Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. C536726 225060 3253 C2931488