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DOID:0111535 - progressive osseous heteroplasia
Disease Ontology Definition:A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32.
Synonyms: ectopic ossification familial type, familial ectopic ossification, osteoma cutis, POH
Xenbase Genes
:
gnas
| MIM:166350 - OSSEOUS HETEROPLASIA, PROGRESSIVE; POH |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)