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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: myositis ossificans progressiva;   progressive myositis ossificans;   progressive ossifying myositis;   stone man syndrome
 primary_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:13592920
RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920

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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          fibrodysplasia ossificans progressiva 2
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