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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
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Accession:DOID:9001649 term browser browse the term
Definition:Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the glutaminase (GLS) gene was found. GLS loss of function is implicated in a form of neonatal epileptic encephalopathy (EIEE71) and a syndrome of global developmental delay and progressive ataxia (GDPAG). (OMIM)
Synonyms:exact_synonym: CASGID
 primary_id: OMIM:618339
For additional species annotation, visit the Alliance of Genome Resources.


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Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gls glutaminase ISO ClinVar Annotator: match by term: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar
PMID:30239721 NCBI chr 9:54,212,622...54,284,879
Ensembl chr 9:54,212,767...54,284,872
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      skin disease 2749
        Skin Abnormalities 658
          Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  intellectual disability 2107
                    Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.