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fibrodysplasia ossificans progressiva

^ http://purl.obolibrary.org/obo/DOID_13374


A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. [ url:http://emedicine.medscape.com/article/1112501-overview url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva url:http://omim.org/entry/135100 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva url:http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/ ]

Synonyms: myositis ossificans progressiva, progressive myositis ossificans, progressive ossifying myositis, Stone Man Syndrome

Term info

database cross reference
  • ICD10CM:M61.10
  • MESH:D009221
  • UMLS_CUI:C0016037
  • GARD:6445
  • ICD9CM_2006:728.11
  • ICD10CM:M61.1
  • ICD9CM:728.11
  • CSP2005:1982-9828
  • OMIM:135100
  • NCI:C3040
  • SNOMEDCT_US_2018_03_01:82725007
Subsets

DO_FlyBase_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:13374