| Metadata | |
|---|---|
| ID | DOID:0111535 |
| Name | progressive osseous heteroplasia |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/8126048, https://www.ncbi.nlm.nih.gov/pubmed/11784876, https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia |
| Xrefs |
SNOMEDCT_US_2023_03_01:404074003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ectopic ossification familial type [EXACT] familial ectopic ossification [EXACT] osteoma cutis [EXACT] POH [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |