All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03320 BDE2 brachydactyly type E2 (BD-E2) 613382 AD 16 13 PTHLH - -
01708 BOCD chondrodysplasia, Blomstrand type (BOCD) 215045 AR 7 - PTH1R - -
02281 Eiken Eiken syndrome (Eiken) 600002 AR 4 - PTH1R - -
00892 FIH1 hypoparathyroidism, familial isolated, type 1 (FIH) 146200 AD;AR - - GCM2, PTH - autosomal dominant
01435 MCDJ chondrodysplasia, metaphyseal, Murk Jansen type 156400 AD 12 - PTH1R - -
05218 Ollier enchondromatosis, multiple, Ollier type 166000 - 6 - PTH1R bones (skeleton) intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage; enchondromas are common benign cartilage tumors of bone
01279 PFE tooth eruption, failure, primary (PFE) 125350 AD 26 - PTH1R - -
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