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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:progressive osseous heteroplasia
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Accession:DOID:0111535 term browser browse the term
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. (DO)
Synonyms:exact_synonym: POH;   cutaneous ossification;   ectopic ossification familial type;   familial ectopic ossification;   osteodermia;   osteoma cutis;   osteosis cutis
 primary_id: MESH:C562735
 alt_id: OMIM:166350
 xref: GARD:109;   NCI:C132062;   ORDO:2762


show annotations for term's descendants           Sort by:
progressive osseous heteroplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1505964 PMID:2122458 PMID:8557265 PMID:8702665 PMID:9876352 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      progressive osseous heteroplasia 6
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Genetic Skin Diseases 1853
                progressive osseous heteroplasia 6
paths to the root