Details of Disease

General Information of Disease (ID: DISNNPK1)

Disease Name DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Synonyms DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Disease Hierarchy
DISFXMTP: Syndromic constitutional thrombocytopenia
DISNNPK1: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Disease Identifiers
MONDO ID
MONDO_0044635
UMLS CUI
C5567465
MedGen ID
1798888
Orphanet ID
494444
SNOMED CT ID
1172604004

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
DIAPH1 OTZBYPLH Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.