hyaline fibromatosis syndrome

Term ID

DOID:0111669

Synonyms

• HFS
• inherited systemic hyalinosis
• puretic syndrome
• systemic hyalinosis

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. https://www.ncbi.nlm.nih.gov/pubmed/22383261

References

• MESH:D057770
• NCI:C98297
• OMIM:228600
• ORDO:498474
• SNOMEDCT_US_2023_03_01:238861002
• UMLS_CUI:C2745948

Ontology

Human Disease   ( DOID:0111669 )