Details of Disease

General Information of Disease (ID: DIS72FE1)

Disease Name Catifa syndrome
Synonyms CATIFA; CATIFA SYNDROME; Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder
Disease Hierarchy
DISYKSRF: Genetic disease
DIS72FE1: Catifa syndrome
Disease Identifiers
MONDO ID
MONDO_0032901
UMLS CUI
C5231492
OMIM ID
618761
MedGen ID
1684686

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
RIC1 OT3X4606 Limited Autosomal recessive [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.