Details of Disease

General Information of Disease (ID: DISFEL2F)

Disease Name Birbeck granule deficiency
Synonyms Birbeck granules, absence of; Birbeck granule deficiency
Disease Hierarchy
DISYKSRF: Genetic disease
DISFEL2F: Birbeck granule deficiency
Disease Identifiers
MONDO ID
MONDO_0013251
UMLS CUI
C3150657
OMIM ID
613393
MedGen ID
462007

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
CD207 OTI9RUDN No Known Autosomal dominant [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.