All diseases

49 entries on 1 page. Showing entries 1 - 49.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00787 - encephalopathy, neonatal, severe 300673 XLR 13 26 MECP2 - -
01620 - acid phosphatase deficiency 200950 AR - - ACP2 - -
01955 - carnitine palmitoyltransferase II deficiency, late-onset 255110 AD;AR 2 2 CPT2 - -
02308 - CPT II deficiency, infantile 600649 AR 3 3 CPT2 - -
02798 - CPT II deficiency, lethal neonatal 608836 AR - - CPT2 - -
00122 ACEP aceruloplasminemia 604290 AR 3 1 CP - -
06416 AI1J Amelogenesis imperfecta, type IJ 617297 AR - - ACPT - -
04439 ARS Al-Raqad syndrome (ARS) 616459 AR - - DCPS - -
00230 AS Angelman syndrome (AS) 105830 AD 134 140 CDKL5, MECP2, UBE3A - -
06417 ASGD8 Anterior segment dysgenesis 8 617319 AR - - CPAMD8 - -
02161 AUTSX3 autism, susceptibility to, X-linked, type 3 (AUTSX-3) 300496 XL - - MECP2 - -
05062 BBS15 Bardet-Biedl syndrome?, type 15 (BBS-15) 615992 AR - - WDPCP - -
06895 BDVS Blakemore-Durmaz-Vasileiou syndrome 619326 AR 5 5 CPE - -
02655 BMIQ4 body mass index quantitative trait locus 4 (BMIQ-4) 607447 - - - UCP2 - -
05063 CHDTHP heart defects, congential?, hamartomas of tongue, and polysyndactyly (CHDTHP) 217085 AR - - WDPCP - -
06808 CMT2Y Charcot-Marie-Tooth disease, type 2Y 616687 AD - - VCP - -
01691 CPN1D carboxypeptidase N deficiency (CPN1D) 212070 AR 10 8 CPN1 - -
01848 CPSID carbamoylphosphate synthetase I deficiency 237300 AR 238 94 CPS1 - -
01956 CPTD1A carnitine palmitoyltransferase deficiency, type IA 255120 AR 2 2 CPT1A - -
00841 EIEE encephalopathy, epileptic, early infantile (EIEE) - - 155 158 CELSR3, CPLX1, HNRNPU, ITPA, PHACTR1, RHOBTB2 - -
05799 EIEE63 encephalopathy, epileptic, early infantile, type 63 (EIEE63) 617976 AR - - CPLX1 - -
03637 ETL5 epilepsy, temporal lobe, familial, type 5 (ETL-5) 614417 AD;AR 4 3 CPA6 - -
05979 FCAS1 FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 - AD - - CPN1 - -
03638 FEB11 Febrile seizures, familial, 11 614418 AR 4 4 CPA6 - -
03493 FTDALS6;ALS14 dementia, frontotemporal, and/or amyotrophic lateral sclerosis, type 6 (ALS14) 613954 AD - - VCP - -
01264 HCP coproporphyria, hereditary 121300 AD;AR 7 6 CPOX - -
03812 HSAN9;SPG49 neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (SPG49) 615031 AR - - TECPR2 - -
00218 IBMPFD1 myopathy, inclusion body, with early-onset Paget disease and frontotemporal dementia, type 1 167320 AD 62 20 VCP - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
03583 IIAE4 encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4) 614212 AD;AR - - CPT2 - -
03407 LKDMN Leukoencephalopathy with dystonia and motor neuropathy 613724 AR 3 1 SCP2 - -
01113 MCCRP1 microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1) 251270 AR 1 2 TUBGCP6 - -
05053 MCCRP3 microcephaly and chorioretinopathy, autosomal recessive, type 3 (MCCRP-3) 616335 AR - - TUBGCP4 - -
05153 MCPH microcephaly, primary, autosomal recessive (MCPH) - - 8 8 CEP152, MCPH1, MFSD2A, WDFY3 - -
00393 MCPH1 microcephaly, type 1, primary, autosomal recessive (MCPH-1) 251200 AR 5 5 MCPH1 - -
04572 MRXS13 mental retardation, X-linked, syndromic, type 13 (MRX13) 300055 XLR 1 - MECP2 - -
00788 MRXSL mental retardation, X-linked syndromic, Lubs type (MRXSL) 300260 XLR 1 - MECP2 - -
06803 MYP27 Myopia 27 618827 AD - - CPSF1 - -
05611 NDD neurodevelopmental disorder (NDD) - - 3539 3354 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 72 more - -
07057 NEDMLOB neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 620428 AR - - CPSF3L - -
06101 PAMDDFS Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 618737 AR - - TUBGCP2 - -
03913 PHN hypertension, pulmonary, neonatal, susceptibility to (PHN) 615371 - 2 2 CPS1 - -
04187 POF ovarian failure, premature (POF) - - 37 22 C14orf39, FOXL2, HFM1, MCM8, NOBOX, STAG3, SYCP2L - -
00066 RTT Rett syndrome (RTT) 312750 XLD 42 1405 MECP2 - -
02726 SPENCDI Spondyloenchondrodysplasia, with immune dysregulation (SPENCDI) 607944 AR 10 10 ACP5 - -
00325 SPG paraplegia, spastic (SPG) - - 127 121 AMFR, CAPN1, DDHD2, HPDL, RNF170, SPAST, SPG11, TECPR2, TMEM63C - -
04430 SPG73 paraplegia, spastic?, autosomal dominant, type 73 (SPG-73) 616282 AD - - CPT1C - -
05800 SPGF1 spermatogenic failure, type 1 (SPGF1) 258150 AR - - SYCP2 - -
02079 SPGF4 Pregnancy loss, recurrent, 4 270960 AD 1 1 SYCP3 - -
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