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GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
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Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
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GALAXY
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Guidelines
MIRAGE
progressive osseous heteroplasia
Summary
- Synonym
-
- POH
- ectopic ossification familial type
- familial ectopic ossification
- osteoma cutis
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111535
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5JWF2 | Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas |
