Hyaline Fibromatosis Syndrome
Disease ID: disease_node_12420
Connections displayed (default: 10).
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| Dbxref | MESH:D057770, MIM:228600, NCI:C98297, ORDO:498474, SNOMEDCT_US_2023_03_01:238861002, UMLS_CUI:C2745948 |
|---|---|
| Subclassof | DOID_0050737, DOID_65 |
| Data Source | DOID, MESH |
| Synonyms | HFS, inherited systemic hyalinosis, puretic syndrome, systemic hyalinosis |
| Mesh Id | D057770 |
| Mesh Label | Hyaline Fibromatosis Syndrome |
| Mesh Subclassof | D012873 |
| Doid Label | hyaline fibromatosis syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_12420 |
| Doid Id | DOID_0111669 |
| Label | Hyaline Fibromatosis Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Connective Tissue Diseases(ID:disease_node_2242) (Disease)