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;   Progressive Myositis Ossificans;   myositis ossificans progressiva;   progressive ossifying myositis;   stone man syndrome
 primary_id: OMIM:135100
 alt_id: RDO:9003110
 xref: GARD:6445
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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

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          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.