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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:Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
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Accession:DOID:9006612 term browser browse the term
Synonyms:exact_synonym: PMRED
 primary_id: OMIM:614501;   RDO:9000660
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snip1 Smad nuclear interacting protein 1 ISO ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM
ClinVar
PMID:22279524 PMID:25741868 PMID:28492532 PMID:34570759 NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        Musculoskeletal Abnormalities 2243
          Craniofacial Abnormalities 1964
            Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 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
            epilepsy 2166
              Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 1
paths to the root