General Information of Disease (ID: DIS74M00)

Disease Name Hypotrichosis 15
Disease Hierarchy
DISSW933: Hypotrichosis
DIS74M00: Hypotrichosis 15
Disease Identifiers
MONDO ID
MONDO_0859341
UMLS CUI
C5774279
OMIM ID
620177
MedGen ID
1824052

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
C3orf52 OTI0JAT8 Strong Autosomal recessive [1]
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References

1 Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis. Genet Med. 2020 Jul;22(7):1227-1234. doi: 10.1038/s41436-020-0794-5. Epub 2020 Apr 27.