Details of Disease

General Information of Disease (ID: DISGX883)

Disease Name Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Synonyms retinal dystrophy, juvenile cataracts, and short stature syndrome; RDJCSS; retinal dystrophy-juvenile cataract-short stature syndrome
Definition
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISGX883: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Disease Identifiers
MONDO ID
MONDO_0014495
UMLS CUI
C4015242
OMIM ID
616108
MedGen ID
863679
Orphanet ID
436245
SNOMED CT ID
1220597000

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
RDH11 OTIND43N Strong Autosomal recessive [1]
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References

1 Functional characterization of mouse RDH11 as a retinol dehydrogenase involved in dark adaptation in vivo. J Biol Chem. 2005 May 27;280(21):20413-20. doi: 10.1074/jbc.M413789200. Epub 2005 Mar 24.