Details of Disease

General Information of Disease (ID: DISNCV78)

Disease Name Hypospadias 2, X-linked
Synonyms HYSP2; hypospadias 2, X-linked; hypospadias 2, X-linked, X-linked recessive
Disease Hierarchy
DIS48CCP: Hypospadias
DISNCV78: Hypospadias 2, X-linked
Disease Identifiers
MONDO ID
MONDO_0010423
MESH ID
C567462
UMLS CUI
C2677879
OMIM ID
300758
MedGen ID
437064

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
MAMLD1 OT9EVMQY Strong X-linked [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.