All diseases

34 entries on 1 page. Showing entries 1 - 34.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00122 - aceruloplasminemia 604290 - - - CP - -
00787 - encephalopathy, neonatal, severe 300673 - - - MECP2 - -
01264 - coproporphyria, hereditary 121300 - - - CPOX - -
01620 - acid phosphatase deficiency 200950 - - - ACP2 - -
01691 - Anaphylotoxin inactivator deficiency 212070 - - - CPN1 - -
01848 - carbamoylphosphate synthetase I deficiency 237300 - - - CPS1 - -
01955 - carnitine palmitoyltransferase II deficiency, late-onset 255110 - - - CPT2 - -
01956 - carnitine palmitoyltransferase I deficiency 255120 - - - CPT1A - -
02079 - spermatogenesis arrest 270960 - - - SYCP3 - -
02308 - carnitine palmitoyltransferase II deficiency, infantile 600649 - - - CPT2 - -
02726 - Spondyloenchondrodysplasia with immune dysregulation 607944 - - - ACP5 - -
02798 - carnitine palmitoyltransferase II deficiency, lethal neonatal 608836 - - - CPT2 - -
03407 - Leukoencephalopathy with dystonia and motor neuropathy 613724 - - - SCP2 - -
03583 - Encephalopathy, acute, infection-induced, 4, susceptibility to 614212 - - - CPT2 - -
03638 - Febrile seizures, familial, 11 614418 - - - CPA6 - -
03913 - Pulmonary hypertension, neonatal, susceptibility to 615371 - - - CPS1 - -
03493 ALS-14 sclerosis, lateral, amyotrophic, type 14, with or without frontotemporal dementia (ALS-14) 613954 - - - VCP - -
04439 ARS Al-Raqad syndrome (ARS) 616459 - - - DCPS - -
00230 AS Angelman syndrome (AS) 105830 - - - CDKL5, MECP2, UBE3A - -
02161 AUTSX-3 autism, susceptibility to, X-linked, type 3 (AUTSX-3) 300496 - - - MECP2 - -
05062 BBS-15 Bardet-Biedl syndrome?, type 15 (BBS-15) 615992 - - - WDPCP - -
02655 BMIQ-4 body mass index quantitative trait locus 4 (BMIQ-4) 607447 - - - UCP2 - -
05063 CHDTHP heart defects, congential?, hamartomas of tongue, and polysyndactyly (CHDTHP) 217085 - - - WDPCP - -
03637 ETL-5 epilepsy, temporal lobe, familial, type 5 (ETL-5) 614417 - - - CPA6 - -
00218 IBMPFD myopathy, inclusion body, with early-onset Paget disease and frontotemporal dementia (IBMPFD) 167320 - - - VCP - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
01113 MCCRP-1 microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1) 251270 - - - TUBGCP6 - -
05053 MCCRP3 microcephaly and chorioretinopathy, autosomal recessive, type 3 (MCCRP-3) 616335 - - - TUBGCP4 - -
00393 MCPH-1 microcephaly, type 1, primary, autosomal recessive (MCPH-1) 251200 - - - MCPH1 - -
04572 MRX-13 mental retardation, X-linked, syndromic, type 13 (MRX-13) 300055 - - - MECP2 - -
00788 MRXSL mental retardation, X-linked syndromic, Lubs type (MRXSL) 300260 - - - MECP2 - -
00066 RTT Rett syndrome (RTT) 312750 - - - MECP2 - -
03812 SPG-49 paraplegia, spastic, type 49, autosomal recessive (SPG-49) 615031 - - - TECPR2 - -
04430 SPG-73 paraplegia, spastic?, autosomal dominant, type 73 (SPG-73) 616282 - - - CPT1C - -
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