Details of Disease

General Information of Disease (ID: DIS31PO5)

Disease Name Tumoral calcinosis, hyperphosphatemic, familial, 3
Synonyms HFTC3; tumoral calcinosis, hyperphosphatemic, familial, 3
Disease Hierarchy
DISYJZKG: Familial tumoral calcinosis
DISO5FAY: Inborn error of metabolism
DIS31PO5: Tumoral calcinosis, hyperphosphatemic, familial, 3
Disease Identifiers
MONDO ID
MONDO_0060715
UMLS CUI
C4693864
OMIM ID
617994
MedGen ID
1638917

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
KL OTD4VWU6 Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.