Details of Disease

General Information of Disease (ID: DISZAHF9)

Disease Name Hyaline fibromatosis syndrome
Synonyms hyalinosis, systemic; inherited systemic hyalinosis; infantile systemic hyalinosis (former subtype); juvenile hyaline fibromatosis (former subtype); HFS; hyaline fibromatosis syndrome
Disease Hierarchy
DISOTEY1: Primary osteolysis
DISZAHF9: Hyaline fibromatosis syndrome
Disease Identifiers
MONDO ID
MONDO_0009229
UMLS CUI
C5574677
OMIM ID
228600
MedGen ID
1805033
Orphanet ID
498474
SNOMED CT ID
1197494003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANTXR2 OTOGFGOJ Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.