Medical Subject Headings

Last uploaded: November 5, 2019

Preferred Name	Osseous Heteroplasia, Progressive
Synonyms	Osteoma Cutis
ID	http://purl.bioontology.org/ontology/MESH/C562735
altLabel	Osteoma Cutis Progressive Osseous Heteroplasia Osteodermia Cutaneous Ossification Ectopic Ossification, Familial Osteosis Cutis
cui	C0334041
HM	D009999 D001851 D012873
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D009999 http://purl.bioontology.org/ontology/MESH/D001851 http://purl.bioontology.org/ontology/MESH/D012873
MDA	20121105
MeSH Frequency	63
MMR	20150818
notation	C562735
prefLabel	Osseous Heteroplasia, Progressive
SC	3
Scope Statement	A rare autosomal dominant disorder characterized by dermal OSTEOGENESIS beginning in infancy, followed by increasing and extensive bone formation in deep muscle and FASCIA. Mutations in the GNAS1 gene have been identified. OMIM: 166350
TERMUI	T842334 T801392 T801393 T801391 T842333 T842338 T842337
TH	OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/166350	Online Mendelian Inheritance in Man	CUI
http://purl.bioontology.org/ontology/OMIM/166350	Online Mendelian Inheritance in Man	LOOM
http://purl.bioontology.org/ontology/OMIM/139320	Online Mendelian Inheritance in Man	CUI