Details of Disease

General Information of Disease (ID: DISNV74J)

Disease Name Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
Disease Hierarchy
DIS840H2: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
DISNV74J: Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
Disease Identifiers
MONDO ID
MONDO_0859567
UMLS CUI
C5676895
OMIM ID
616994
MedGen ID
1803802

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
RAB5IF OTNNWX7E 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.