All diseases

14 entries on 1 page. Showing entries 1 - 14.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05337 BTDD brachycephaly, trichomegaly, and developmental delay (BTDD, MacInnes syndrome (MCINS)) 617412 AD - - RPS23 - -
06821 COXPD36 Combined oxidative phosphorylation deficiency 36 617950 AR - - MRPS2 - -
07029 COXPD46 combined oxidative phosphorylation deficiency, type 46 618952 AR - - MRPS23 - -
07028 COXPD47 combined oxidative phosphorylation deficiency, type 47 618958 AR - - MRPS28 - -
03048 COXPD5 combined oxidative phosphorylation deficiency, type 5 (COXPD-5) 611719 AR 1 1 MRPS22 - -
07026 COXPD50 combined oxidative phosphorylation deficiency, type 50 619025 AR - - MRPS25 - -
05484 DBA anemia, Diamond-Blackfan (DBA) - - 790 706 RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7 - -
03305 DBA10 anemia, Diamond-Blackfan, type 10 (DBA10) 613309 AD - - RPS26 - -
04129 DBA13 anemia, Diamond-Blackfan, type 13 (DBA-13) 615909 AD - - RPS29 - -
04648 DBA15 anemia, Diamond Blackfan, type 15 with mandibulofacial dysostosis (DBA-15) 606164 AD - - RPS28 - -
05486 DBA17 anemia, Diamond-Blackfan, type 17 (DBA-17) 617409 AD - - RPS27 - autosomal dominant
02966 DBA3 anemia, Diamond-Blackfan, type 3 (DBA3) 610629 AD - - RPS24 - -
00139 ID intellectual disability (ID) - - 2752 2434 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more - -
06581 ODG7 Ovarian dysgenesis 7 618117 AR - - MRPS22 - -
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