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Standards Ontologies Notations
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
Disease Ontology
DOID:0111535
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
652 BMP4 bone morphogenetic protein 4
1499 CTNNB1 catenin beta 1
2778 GNAS GNAS complex locus
6678 SPARC secreted protein acidic and cysteine rich
6696 SPP1 secreted phosphoprotein 1
Displaying all 5 entries
Gene ID Gene Symbol Description Source
12159 Bmp4 bone morphogenetic protein 4
12387 Ctnnb1 catenin beta 1
14683 Gnas GNAS complex locus
20692 Sparc secreted acidic cysteine rich glycoprotein
20750 Spp1 secreted phosphoprotein 1
Displaying all 3 entries
Gene ID Gene Symbol Description Source
24791 Sparc secreted protein acidic and cysteine rich
25353 Spp1 secreted phosphoprotein 1
84353 Ctnnb1 catenin beta 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
33432 dpp decapentaplegic
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399322 bmp4.S bone morphogenetic protein 4 S homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
176931 ost-1 Kazal-like domain-containing protein;SPARC
179068 dbl-1 Protein dbl-1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024