Disease #00705

Official abbreviation METCDS
Name metachondromatosis (METCDS)
OMIM ID 156250
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PTPN11
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00271184 18-5212 - - F ? Italy - - 0 - - METCDS Lesions at femur and left foot, at the level of the third finger of the right hand and at the left ankle, and at the right knee. PTPN11 PTPN11 1 1 Carmela Fusco
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