progressive osseous heteroplasia
Information
- Disease name
- progressive osseous heteroplasia
- Disease ID
- DOID:0111535
- Description
- "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." [url:https\://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/11784876, url:https\://www.ncbi.nlm.nih.gov/pubmed/8126048]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:109
- Cross Reference ID (Disease Ontology)
- MEDDRA:10048902
- Cross Reference ID (Disease Ontology)
- MESH:C562735
- Cross Reference ID (Disease Ontology)
- MIM:166350
- Cross Reference ID (Disease Ontology)
- NCI:C132062
- Cross Reference ID (Disease Ontology)
- ORDO:2762
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:404074003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0334041
- Exact Synonym (Disease Ontology)
- ectopic ossification familial type
- Exact Synonym (Disease Ontology)
- familial ectopic ossification
- Exact Synonym (Disease Ontology)
- osteoma cutis
- Exact Synonym (Disease Ontology)
- POH
- OrphaNumber from OrphaNet (Orphanet)
- 2762
- MedGen concept unique identifier (MedGen Concept name)
- C0334041
- MedGen unique identifier (MedGen Concept name)
- 137714