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2867 entries on 29 pages. Showing entries 1 - 100.
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ID

Abbreviation

Name

OMIM ID

Inheritance

Individuals

Phenotypes

Associated with genes

Associated tissues

Disease features
00001 JBS Johanson-Blizzard syndrome (JBS) 243800 AR 83 79 UBR1 - -
00002 JBTS1 Joubert syndrome, type 1 (JBTS1) 213300 AR 49 53 INPP5E, TCTN1 - -
00004 KTZS Kohlschutter-Tonz syndrome 226750 AR 43 43 ROGDI - -
00005 MDDGC5;LGMDR9;LGMD2I dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I) 607155 AR 5 7 FKRP - -
00006 IVA isovaleric acidemia (IVA) 243500 AR 14 6 IVD - -
00007 LCCS1 contracture syndrome, lethal, congenital, type 1 253310 AR 32 33 GLE1 - -
00008 CAAHD arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD) 611890 AR 18 16 GLE1 - -
00009 EPM1A epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg) 254800 AR 2 3 CSTB - -
00010 MCLMR microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR) 152950 AD 85 60 KIF11 - -
00011 USH3B Usher syndrome, type 3B (USH-3B) 614504 AR 5 4 HARS - -
00012 PSORS psoriasis, pustular, generalized (PSORS) - - 15 14 - - -
00013 SPD dwarfism, primordial, syndromic (SPD) - - 3 3 LARP7 - -
00014 SCP palsy, cerebral, spastic (SCP) - - 22 3 IL18 - -
00015 FLHS Floating-Harbor syndrome (FLHS) 136140 AD 74 75 SRCAP - -
00016 HYDM2 mole, hydatidiform, recurrent, type 2 (HYDM-2) 614293 AR 1 2 KHDC3L - -
00017 MRXS10 mental retardation, X-linked syndromic, type 10 (MRXS-10) 300220 - 3 4 HSD17B10 - -
00018 HSD10MD HSD10 Mi disease 300438 XLD 24 23 HSD17B10 - -
00021 DFNX1 deafness, X-linked, type 1 (DFNX-1) 304500 XL 1 1 PRPS1 - -
00024 WABS Warsaw breakage syndrome (WABS) 613398 Mu 22 22 DDX11 - cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalitie; cardiac defects; no limb reductions; hearing loss; skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
00025 FTDALS dementia, frontotemporal, and/or amyotrophic lateral sclerosis (FTDALS) 105550 AD 277 11 C9orf72 - -
00026 arthrogryposis arthrogryposis - - 60 60 GLE1, TNNT3 - -
00030 ODG1 dysgenesis, ovarian, type 1 233300 AR 16 15 FSHR - -
00031 Mulibrey nanism Mulibrey nanism (muscle-liver-brain-eye dwarfism) 253250 AR 1 1 TRIM37 - -
00033 MHS1 hyperthermia, malignant, susceptibility, type 1 (MHS-1) 145600 AD 4 3 RYR1 - autosomal dominant
00035 GCE encephalopathy, glycine (GCE) - - 588 588 AMT, GCSH, GLDC - -
00037 MC3DN1 mitochondrial complex III deficiency, nuclear, type 1 (MC3DN-1)] 124000 AR 1 1 BCS1L - -
00038 LS Leigh syndrome (LS) 256000 AR;Mi 72 62 BCS1L, C17orf89, COX10, COX15, FASTKD5, FOXRED1, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1 - -
00040 MTDPS7 mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7) 271245 AR 7 7 C10orf2 - -
00041 PEOA3 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3) 609286 AD 3 1 C10orf2 - -
00042 MTDPS3 mitochondrial DNA depletion syndrome (hepatocerebral), type 3 (MTDPS-3) 251880 AR 4 4 DGUOK - -
00044 FAF amyloidosis, Finnish type (type V) (FAF) 105120 AD 24 24 GSN - -
00047 lactose intol. lactose intolerance (lactase persistence/nonpersistence) 223100 AD 12 12 LCT, MCM6 - -
00049 SD Salla disease (SD) 604369 AR 2 1 SLC17A5 - -
00050 hydrops fetalis hydrops fetalis - - 9 8 ANGPT2 - -
00051 LPI lysinuric protein intolerance (LP!) 222700 AR 1 1 SLC7A7 - -
00053 RAPADILINO RAPADILINO syndrome 266280 AR - 1 RECQL4 - -
00054 RTS2 Rothmund-Thomson syndrome, type 2, 268400 AR 35 40 ANAPC1, RECQL4 - -
00057 MSUD1A maple syrup urine disease, type Ia 248600 AR 9 9 BCKDHA - -
00058 CORD dystrophy, cone-rod (CORD) - - 363 361 ADAM9, DRAM2, GUCY2D, PITPNM3, POC1B, RAB28, TTLL5 - -
00060 CLN5 lipofuscinosis, ceroid, neuronal, type 5 (CLN-5) 256731 AR 7 7 CLN5 - -
00061 CLN8 lipofuscinosis, ceroid, neuronal, type 8 (CLN-8) 600143 AR 3 3 CLN8 - -
00064 CLN1 lipofuscinosis, ceroid, neuronal, type 1 (CLN-1) 256730 AR 8 9 PPT1 - -
00065 Rett syndrome Rett syndrome, congenital variant 613454 AD 33 36 FOXG1 - -
00066 RTT Rett syndrome (RTT) 312750 XLD 42 1405 MECP2 - -
00067 DEE2 encephalopathy, developmental and epileptic, type 2 300672 XLD 62 56 CDKL5 - -
00068 CLN3 lipofuscinosis, ceroid, neuronal, type 3 (CLN3) 204200 AR 13 13 CLN3 - -
00073 MDDGA3;MEB;WWS dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A3 (Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB)) 253280 AR 23 23 POMGNT1 - -
00074 NPHS1 nephrotic syndrome, type 1 (NPHS-1, Finnish congenital nephrosis (CNF)) 256300 AR 4 4 NPHS1 - -
00075 MKS3 Meckel syndrome, type 3 607361 AR 1 1 TMEM67 - -
00076 COACH COACH syndrome 216360 AR 1 1 CC2D2A, RPGRIP1L, TMEM67 - -
00078 MKS1 Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome) 249000 AR 16 16 MKS1 - -
00082 JBTS9 Joubert syndrome, type 9 (JBTS-9) 612285 AR 1 1 CC2D2A - -
00083 FSHD2 dystrophy, muscular, facioscapulohumeral, type 2 (FSHD-2) 158901 - 146 118 DUX4, LRIF1, SMCHD1 - -
00085 COH1 Cohen syndrome, type 1 216550 AD 17 16 VPS13B - bushy eyebrows and eyelashes, down-slanting palpebral fissures with a wave-shaped outline, high nasal bridge, low-set columella, and a short, upturned philtrum with prominent central incisors; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); high myopia and retinal dystrophy, narrow hands with slender fingers, narrow feet with sandal gap, pubertal delay and neutropenia
00086 MRSHSS Marshall-Smith syndrome (MRSHSS) 602535 AD 18 18 NFIX - -
00087 MALNS;SOTOS2 Malan syndrome (previously SOTOS2) 614753 AD 60 4 NFIX - -
00088 DIAR1 diarrhea, type 1, chloride, secretory, congenital (Finnish type, DIAR-1) 214700 AR 69 2 SLC26A3 - -
00089 BBS1 Bardet-Biedl syndrome, type 1 (BBS-1) 209900 AR;DR 12 11 BBS1, CCDC28B, MKS1, TMEM67 - -
00090 ECTD9 dysplasia, ectodermal, type 9, hair/nail (ECTD-9) 614931 AR 1 1 HOXC13 - -
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3065 1838 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
00092 WARBM1 Warburg micro syndrome, type 1 (WARBM1) 600118 AR 3 2 RAB3GAP1 - -
00093 WARBM3 Warburg micro syndrome, type 3 (WARBM3) 614222 AR - 2 RAB18 - -
00094 WARBM2 Warburg micro syndrome, type 2 (WARBM2) 614225 AR 1 2 RAB3GAP2 - -
00095 AD3 Alzheimer disease, type 3 (protection against, due to APOE3-Christchurch) 607822 AD 34 515 APOE, PSEN1 - -
00096 FTD dementia, frontotemporal (FTD) 600274 AD 429 61 MAPT, PSEN1 - -
00098 SLSN7 Senior-Loken syndrome, type 7 (SLSN-7) 613615 - 20 285 SDCCAG8 - -
00100 CATLPH atresia, choanal, and lymphedema (CATLPH) 613611 AR - 21 PTPN14 - -
00101 TMD dystrophy, muscular, tibial (TMD) 600334 AD 11 12 TTN - -
00102 cancer, predisposition cancer, predisposition - - 14 18 USP20 - -
00103 MRLIAF mental retardation, language impairment, autistic features (MRLIAF) 613670 AD 4 2 FOXP1 - -
00104 EHT hypertension, essential, susceptibility to (EHT) 145500 Mu 2 388 ADD1, AGT, AGTR1, ATP1B1, CYP3A5, ECE1, GNB3, NOS2, NOS3, PTGIS, RGS5, SELE - -
00105 ACG1B achondrogenesis, type IB (ACG-1B) 600972 AR 1 3 SLC26A2 - -
00106 AO2 atelosteogenesis, type II (AO-2, De la Chapelle dysplasia) 256050 AR 1 4 SLC26A2 - -
00107 EDM4 dysplasia, epiphyseal, multiple, type 4 (EDM-4) 226900 AR - 6 SLC26A2 - -
00108 DYT dystonia (DYT) - - 174 214 GNAL, KMT2B, THAP1 - -
00109 WDM myopathy, distal, Welander (WDM) 604454 AD;AR 1 2 TIA1 - -
00110 NBIA4 neurodegeneration, with brain iron accumulation, type 4 (NBIA-4) 614298 AD;AR - 3 C19orf12 - -
00111 TMAU trimethylaminuria (TMAU, body odor, fish-like)) 602079 AR 72 74 FMO3 - autosomal recessive
00112 RP retinitis pigmentosa (RP) 268000 - 1159 897 ADCK4, ARL3, BEST1, CC2D2A, CNGB1, DHDDS, EYS, HKDC1, IDH3A, IMPG1, KIF3B, NR2E3, POC5, PRPF8, RNU4-2, RNU6-1, RNU6-2, RNU6-8, RNU6-9, SLC7A14, SMG8, TMEM216 - -
00113 FFDD3 dysplasia, dermal, focal facial, type 3 (FFDD-3, Setleis) 227260 AR - 3 TWIST2 - -
00114 GA1 glutaricaciduria, type 1 (GA-1) 231670 AR 811 832 GCDH - autosomal recessive
00115 CRMCC microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome) 612199 AR 33 32 CTC1, OBFC1, TEN1 - -
00116 ND Norrie disease 310600 XLR 71 73 NDP - -
00118 BRGDA1 Brugada syndrome, type 1 (BRGDA-1) 601144 AD 366 365 SCN5A - -
00119 DKC dyskeratosis congenita (DKC) - - 19 19 CTC1 - -
00120 CTC1related CTC1-related diseases - AR 4 3 CTC1 - -
00121 TPBS brachydactyly, Temtamy, preaxial, syndrome (TPBS) 605282 AR 1 1 CHSY1 - -
00122 ACEP aceruloplasminemia 604290 AR 3 1 CP - -
00123 MDDGA1;MEB;WWS dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A1 (WWS, MEB) 236670 AR 1 1 POMT1 - -
00124 MFDGA;MFDM dysostosis, mandibulofacial, Guion-Almeida type (MFDM) 610536 AD 71 48 EFTUD2 - -
00125 FANCA Fanconi anemia, complementation group A (FANCA) 227650 AR 1021 992 FANCA - -
00126 SCKL Seckel syndrome (SCKL) - - 13 11 ATR, CENPJ, CEP152, CEP63, NIN, RBBP8 - -
00128 CF cystic fibrosis (CF) 219700 AR 562 554 CFTR, FCGR2A, TGFB1 - -
00129 BESC1 bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1) 211400 AD - 4 CFTR, SCNN1B - -
00130 PCTT pancreatitis 167800 AD 68 59 CFTR, CTRC, PRSS1, PRSS2, SPINK1 - -
00131 CBAVD vas deferens, congenital bilateral absence (CBAVD) 277180 AR - 1 CFTR - -
00132 MDS myelodysplastic syndrome (MDS) 614286 SMo 10 13 ASXL1, GATA2, PTPN11, SF3B1, TET2 - -
00133 WVS Weaver syndrome (WVS) 277590 AD 63 61 EZH2 - -
00134 NPS nail-patella syndrome (NPS) 161200 AD 184 16 LMX1B - -
00135 GTPTS genitopatellar syndrome (GTPTS) 606170 AD 27 14 KAT6B - -
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