|OBO ID: DOID:0111669|
|Term Name:||hyaline fibromatosis syndrome||Search Ontology:|
|Definition:||A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21. https://www.ncbi.nlm.nih.gov/pubmed/22383261|
|Ontology:||Human Disease (DOID:0111669)|
|is a type of:||
OTHER hyaline fibromatosis syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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