Details of Disease

General Information of Disease (ID: DISXTTM0)

Disease Name Otofaciocervical syndrome 2
Synonyms OFC2; OTFCS2; otofaciocervical syndrome caused by mutation in PAX1; otofaciocervical syndrome 2; otofaciocervical syndrome type 2; PAX1 otofaciocervical syndrome
Definition Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.
Disease Hierarchy
DISLYABR: Otofaciocervical syndrome
DISXTTM0: Otofaciocervical syndrome 2
Disease Identifiers
MONDO ID
MONDO_0014254
UMLS CUI
C5442121
OMIM ID
615560
MedGen ID
1782278

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
PAX1 OT0Y3MIM Definitive Autosomal recessive [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.