Details of Disease

General Information of Disease (ID: DISMHQHW)

Disease Name Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Synonyms ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB; ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic
Disease Hierarchy
DISYKSRF: Genetic disease
DISMHQHW: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies
Disease Identifiers
MONDO ID
MONDO_0032884
UMLS CUI
C5231477
OMIM ID
618727
MedGen ID
1684719

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
RHOA TTP2U16 Limited Unknown [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RHOA OT6YOJ9N Limited Unknown [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.