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Summary Literature (0)
DOID:0111669 - hyaline fibromatosis syndrome

Disease 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 the ANTXR2 gene on chromosome 4q21.21.

Synonyms: HFS, inherited systemic hyalinosis, puretic syndrome, systemic hyalinosis

Xenbase Genes : antxr2


MIM:
MIM:228600 - HYALINE FIBROMATOSIS SYNDROME; HFS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), connective tissue disease (is_a)