All diseases

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

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01435 - chondrodysplasia, metaphyseal, Murk Jansen type 156400 12 0 PTH1R - -
03320 BD-E2 brachydactyly type E2 (BD-E2) 613382 16 13 PTHLH - -
01708 BOCD chondrodysplasia, Blomstrand type (BOCD) 215045 7 0 PTH1R - -
02281 Eiken Eiken syndrome (Eiken) 600002 4 0 PTH1R - -
00892 FIH hypoparathyroidism, familial isolated (FIH) 146200 0 0 GCM2, PTH - autosomal dominant
05218 Ollier enchondromatosis, multiple, Ollier type 166000 6 0 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 24 0 PTH1R - -