Disease #05218

Official abbreviation Ollier
Name enchondromatosis, multiple, Ollier type
OMIM ID 166000
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 0
Associated with 1 gene PTH1R
Associated tissues bones (skeleton)
Disease features intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage; enchondromas are common benign cartilage tumors of bone
Remarks -


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00095932 - PubMed: Couvineau 2008 - ? - (France) - - 0 - - Ollier - PTH1R PTH1R 1 1 Arrate Pereda
00095933 - PubMed: Couvineau 2008 - ? - (France) - - 0 - - Ollier - PTH1R PTH1R 1 1 Arrate Pereda
00095934 - PubMed: Couvineau 2008 - ? - (France) - - 0 - - Ollier - PTH1R PTH1R 1 1 Arrate Pereda
00095935 - PubMed: Hopyan 2002 2-generation family, 2 affecteds (son and father: with a mild skeletal dysplasia but no evidence of enchondromas) M - (Canada) - - 0 - - Ollier - PTH1R PTH1R 1 2 Arrate Pereda
00095936 - PubMed: Hopyan 2002 - M - (Canada) - - 0 - - Ollier - PTH1R PTH1R 1 1 Arrate Pereda
00100340 - PubMed: Hopyan 2002 a mild skeletal dysplasia but no evidence of enchondromas M - (Canada) - - 0 - - Ollier - PTH1R PTH1R 1 1 Arrate Pereda
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