All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00302 ACLS;JBTS12 acrocallosal syndrome; (ACLS, Joubert syndrome, type 12 (JBTS-12)) 200990 AR 9 9 KIF7 - -
06257 AGBK ?Al-Gazali-Bakalinova syndrome 607131 AR 0 0 KIF7 - -
00304 ANPH anencephaly (ANPH) 206500 AR 3 3 KIF7 - -
00303 HLS2 hydrolethalus syndrome, type 2 (HLS-2) 614120 AR 1 1 KIF7 - -
00139 ID intellectual disability (ID) - - 2130 1866 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 537 more - -
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