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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.


show annotations for term's descendants           Sort by:
 
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 OMIM NCBI chrNW_004936510:10,246,901...10,276,049 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12943
    sensory system disease 4931
      skin disease 2596
        ichthyosis 53
          Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 12943
    disease of anatomical entity 12618
      nervous system disease 10521
        central nervous system disease 9207
          brain disease 8643
            disease of mental health 6280
              developmental disorder of mental health 3996
                specific developmental disorder 3352
                  intellectual disability 3199
                    Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
paths to the root