Details of Disease

General Information of Disease (ID: DISB0I2J)

Disease Name Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISB0I2J: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
Disease Identifiers
MONDO ID
MONDO_0859345
UMLS CUI
C5774283
OMIM ID
620186
MedGen ID
1824056

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
KMT2D OTTVHCLY Strong Autosomal dominant [1]
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References

1 A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17.