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Disease Ontology Browser
hyaline fibromatosis syndrome (DOID:0111669)
Alliance: disease page
Synonyms: HFS; inherited systemic hyalinosis; puretic syndrome; systemic hyalinosis
Alt IDs: OMIM:228600, MESH:D057770, NCI:C98297, ORDO:498474, UMLS_CUI:C2745948
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory