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| Term | hyaline fibromatosis syndrome | ID (Ontology) | DOID:0111669 (Human Disease) |
| 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 the ANTXR2 gene on chromosome 4q21.21. | ||
| Also Known As | "HFS" ; "inherited systemic hyalinosis" ; "puretic syndrome" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ musculoskeletal system disease | |__connective tissue disease____| hyaline fibromatosis syndrome |
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| Is a |
autosomal recessive disease connective tissue disease |
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External Crossreferences & Linkouts
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MESH:D057770 MIM:228600 NCI:C98297 ORDO:498474 SNOMEDCT_US_2023_03_01:238861002 UMLS_CUI:C2745948 |
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