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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: MIM:166350
 xref: GARD:109;   NCI:C132062;   ORDO:2762


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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 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia 		OMIM
CTD
ClinVar		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2122458 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      progressive osseous heteroplasia 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            skin disease 4336
              Genetic Skin Diseases 1865
                progressive osseous heteroplasia 6
paths to the root