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Disease Ontology Browser
progressive osseous heteroplasia (DOID:0111535)
Alliance: disease page
Synonyms: ectopic ossification familial type; familial ectopic ossification; osteoma cutis; POH
Alt IDs: OMIM:166350, MESH:C562735, NCI:C132062, ORDO:2762, UMLS_CUI:C0334041
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 GNAS on chromosome 20q13.32.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory