All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01517 BSVD1;POREN1 brain small vessel disease, type 1 (BSVD1);porencephaly, type 1 (POREN1) 175780 AD 5 4 COL4A1 - -
03053 HANAC angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC) 611773 AD 1 - COL4A1 - -
00256 ICH hemorrhage, intracerebral, susceptibility to (ICH) 614519 - - - ACE, COL4A1, COL4A2 - -
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06221 PADMAL Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 618564 AD - - COL4A1 - -
04424 RATOR tortuosity, arteries, retinal (RATOR) 180000 AD - - COL4A1 - -
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