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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: NEDHCS;   PMRED;   SNIP1-RELATED CONDITION;   neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures
 primary_id: MIM:614501


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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: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, CRANIOFACIAL ABNORMALITIES, AND SEIZURES | ClinVar Annotator: match by term: Psychomotor retardation, epilepsy, and craniofacial dysmorphism | ClinVar Annotator: match by term: SNIP1-related condition OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:28492532 PMID:29358611 PMID:34570759 NCBI chr 5:137,328,371...137,335,846
Ensembl chr 5:137,328,371...137,335,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8463
        Musculoskeletal Abnormalities 3456
          Craniofacial Abnormalities 2777
            Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            epilepsy 2931
              Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 1
paths to the root