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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:Ichthyosis, Spastic Quadriplegia, and Mental Retardation
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Accession:DOID:9000515 term browser browse the term
Synonyms:exact_synonym: ISQMR
 primary_id: OMIM:614457;   RDO:9000478
For additional species annotation, visit the Alliance of Genome Resources.


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Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by OMIM:614457
ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation
OMIM
ClinVar
PMID:22100072 PMID:25326635 PMID:25741868 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      skin disease 2775
        ichthyosis 107
          Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
paths to the root