All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
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 - -
01155 NBIA5 neurodegeneration, with brain iron accululation, type 5 (NBIA5) 300894 XLD 4 1 WDR45 - global developmental delay in early childhood, slow motor and cognitive gains until adolescence or early adulthood, when dystonia, parkinsonism, and dementia manifests; MRI brain pattern characteristic of high iron: markedly hypointense signal on T2-weighted sequences substantia nigra and globus pallidus, cerebral atrophy, T1 hyperintensity surrounding central linear region of signal hypointensity within substantia nigra and cerebral peduncles
06354 NEDSBAS Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 617977 AR - - WDR45B - -
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