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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:fibrodysplasia ossificans progressiva
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Accession:DOID:13374 term browser browse the term
Definition:A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. (DO)
Synonyms:exact_synonym: FOP;   myositis ossificans progressiva;   progressive myositis ossificans;   progressive ossifying myositis;   stone man syndrome
 primary_id: OMIM:135100
 xref: GARD:6445;   ICD10CM:M61.1;   ICD10CM:M61.10;   ICD9CM:728.11;   NCI:C3040;   ORDO:337
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
fibrodysplasia ossificans progressiva term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO ClinVar Annotator: match by term: Progressive myositis ossificans OMIM
ClinVar
PMID:818090 PMID:5033743 PMID:7068725 PMID:10441661 PMID:16642017 More... NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISS OMIM:135100 MouseDO NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Progressive myositis ossificans ClinVar NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        connective tissue disease 4900
          fibrodysplasia ossificans progressiva 3
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                fibrodysplasia ossificans progressiva 3
paths to the root