Details of Disease

General Information of Disease (ID: DISDOXWZ)

Disease Name Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Synonyms MCA/MR; multiple congenital anomalies-intellectual disability with or without dysmorphism; multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Disease Hierarchy
DIS0LF2K: Multiple congenital anomalies/dysmorphic syndrome
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Disease Identifiers
MONDO ID
MONDO_0015159
UMLS CUI
C5680372
MedGen ID
1826158
Orphanet ID
102283

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
PAN2 OTB65N2I Definitive Autosomal recessive [1]
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References

1 Expanding the phenome and variome of skeletal dysplasia. Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5.