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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
 alt_id: RDO:9003110
 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.


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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 ClinVar
OMIM
PMID:818090, PMID:5033743, PMID:7068725, PMID:8758048, PMID:10441661, PMID:16642017, PMID:17077940, PMID:17272450, PMID:17351709, PMID:18203193, PMID:18830232, PMID:19085907, PMID:19330033, PMID:21044902, PMID:21377447, PMID:21567927, PMID:22351757, PMID:22977237, PMID:23302548, PMID:24259422, PMID:25326637, PMID:25741868, PMID:26436010, PMID:26619011, PMID:28492532 NCBI chr 3:44,432,476...44,539,680
Ensembl chr 3:44,432,471...44,522,930
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISS OMIM:135100 MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          fibrodysplasia ossificans progressiva 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                fibrodysplasia ossificans progressiva 2
paths to the root

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