Details of Disease

General Information of Disease (ID: DISOJSO7)

Disease Name Hypotrichosis 12
Synonyms HYPT12; hypotrichosis caused by mutation in RPL21; hypotrichosis 12; hypt12; RPL21 hypotrichosis; hypotrichosis type 12
Definition Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene.
Disease Hierarchy
DISSW933: Hypotrichosis
DIS8WHDJ: Hypotrichosis simplex
DISOJSO7: Hypotrichosis 12
Disease Identifiers
MONDO ID
MONDO_0014384
UMLS CUI
C4014563
OMIM ID
615885
MedGen ID
863000

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
RPL21 OT74GE74 Strong Autosomal dominant [1]
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References

1 Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat. 2011 Jul;32(7):710-4. doi: 10.1002/humu.21503. Epub 2011 Apr 26.