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Metadata
ID DOID:0111669
Name hyaline fibromatosis syndrome
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
Xrefs

MESH:D057770

NCI:C98297

OMIM:228600

ORDO:498474

SNOMEDCT_US_2019_09_01:238867003

UMLS_CUI:C2745948

Synonyms

HFS [EXACT]

inherited systemic hyalinosis [EXACT]

puretic syndrome [EXACT]

systemic hyalinosis [EXACT]

Parent Relationships

is_a connective tissue disease

is_a autosomal recessive disease

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