DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease hyaline fibromatosis syndrome UMLS_CUI:C2745948 ORDO:498474 DOID:0111669 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. NCI:C98297 MESH:D057770 MIM:228600 SNOMEDCT_US_2025_09_01:238861002 disease_ontology HFS inherited systemic hyalinosis puretic syndrome systemic hyalinosis connective tissue disease autosomal recessive inheritance