Details of Disease

General Information of Disease (ID: DISGLLOZ)

Disease Name Intellectual developmental disorder, autosomal recessive 70
Synonyms MRT70; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70; Mental Retardation, Autosomal Recessive 70
Disease Hierarchy
DISJWRZZ: Autosomal recessive non-syndromic intellectual disability
DISGLLOZ: Intellectual developmental disorder, autosomal recessive 70
Disease Identifiers
MONDO ID
MONDO_0032729
UMLS CUI
C5193077
OMIM ID
618402
MedGen ID
1679317

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
RSRC1 OTFCJ4S0 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 GWAS signals revisited using human knockouts. Genet Med. 2018 Jan;20(1):64-68. doi: 10.1038/gim.2017.78. Epub 2017 Jun 22.