Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 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 PMID:28492532 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      skin disease 2993
        ichthyosis 62
          Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
paths to the root