Details of Disease

General Information of Disease (ID: DISCOMHU)

Disease Name Townes-Brocks syndrome 1
Synonyms
deafness, sensorineural, with imperforate anus and thumb anomalies; TBS1; anus, imperforate, with hand, Foot, and Ear anomalies; rear syndrome; renal-ear-anal-radial syndrome; Townes-Brocks-branchiootorenal-like syndrome; Townes-Brocks syndrome 1; townes-brocks branchiootorenal-like syndrome
Disease Hierarchy
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISDR57E: Townes-Brocks syndrome
DISCOMHU: Townes-Brocks syndrome 1
Disease Identifiers
MONDO ID
MONDO_0054581
UMLS CUI
C4551481
OMIM ID
107480
MedGen ID
1635275

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
SALL1 OTYYZGLH Definitive Autosomal dominant [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.