Details of Disease

General Information of Disease (ID: DISLBLPO)

Disease Name Intellectual developmental disorder with cardiac defects and dysmorphic facies
Synonyms IDDCDF; INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
Disease Hierarchy
DISYKSRF: Genetic disease
DISLBLPO: Intellectual developmental disorder with cardiac defects and dysmorphic facies
Disease Identifiers
MONDO ID
MONDO_0032672
UMLS CUI
C5193024
OMIM ID
618316
MedGen ID
1675627
Orphanet ID
562569
SNOMED CT ID
1222708006

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
TMEM94 OTT4ZSUA Moderate 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.