All diseases

8 entries on 1 page. Showing entries 1 - 8.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00900 - Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (Haddad syndrome) 209880 - - - ASCL1, BDNF, EDN3, GDNF, PHOX2B, RET - -
01365 HSCR-1 Hirschsprung disease, type 1 (HSCR-1) 142623 - - - RET - -
01504 MEN-2A neoplasia, endocrine, multiple, type II1 (MEN-2A) 171400 - - - RET - -
01465 MEN-2B neoplasia, endocrine, multiple, type IIb (MEN-2B) 162300 - - - RET - -
01428 MTC carcinoma, thyroid, medullary, familial (MTC) 155240 - - - NTRK1, RET - -
00151 NIDDM diabetes mellitus, noninsulin-dependent (NIDDM) 125853 - - - ABCC8, AKT2, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1A, HNF1B, HNF4A, IGF2BP2, IRS1, IRS2, KCNJ11, LIPC, MAPK8IP1, MTNR1B, NEUROD1, PAX4, 8 more - -
01503 pheochromocytoma pheochromocytoma 171300 - - - GDNF, KIF1B, MAX, RET, SDHB, SDHD, TMEM127, VHL - -
01593 RHDA-1 hypodysplasia/aplasia, renal, type 1 (RHDA-1) 191830 - - - ITGA8, PAX2, RET - -
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