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ONTOLOGY REPORT - ANNOTATIONS


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;   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 JBrowse Chr Start Stop Reference
G Acvr1 activin A receptor type 1 JBrowse link 3 44,432,476 44,539,680 RGD:8554872
RGD:7240710
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          fibrodysplasia ossificans progressiva 2
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                fibrodysplasia ossificans progressiva 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.