Details of Disease

General Information of Disease (ID: DISKEF9P)

Disease Name Hypopigmentation, organomegaly, and delayed myelination and development
Synonyms HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT; HOD
Disease Hierarchy
DISYKSRF: Genetic disease
DISKEF9P: Hypopigmentation, organomegaly, and delayed myelination and development
Disease Identifiers
MONDO ID
MONDO_0032805
UMLS CUI
C5203300
OMIM ID
618541
MedGen ID
1684826

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLCN7 TTST1AJ Strong Autosomal dominant [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCN7 OTJVSUK1 Strong Autosomal dominant [1]
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References

1 Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. Am J Hum Genet. 2019 Jun 6;104(6):1127-1138. doi: 10.1016/j.ajhg.2019.04.008. Epub 2019 May 30.