OBO ID: DOID:0111669
Term Name: hyaline fibromatosis syndrome Search Ontology:
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
is a type of:
OTHER hyaline fibromatosis syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ANTXR2 Hyaline fibromatosis syndrome 228600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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