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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 GNAS 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;   ORDO:2762
For additional species annotation, visit the Alliance of Genome Resources.

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progressive osseous heteroplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bglap bone gamma-carboxyglutamate protein JBrowse link 2 187,741,770 187,748,445 RGD:9068449
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:9068449
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:9068449
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:7240710
G Sparc secreted protein acidic and cysteine rich JBrowse link 10 40,742,390 40,764,232 RGD:9068449
G Spp1 secreted phosphoprotein 1 JBrowse link 14 6,673,686 6,679,965 RGD:9068449

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      progressive osseous heteroplasia 6
Path 2
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  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            autosomal genetic disease 3968
              autosomal dominant disease 2417
                progressive osseous heteroplasia 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.