Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:progressive osseous heteroplasia
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
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
RGD:8554872
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
Term Annotations click to browse term
  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
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.