Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111669 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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