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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:NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
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Accession:DOID:9003448 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by global developmental delay with variably impaired intellectual development. Common features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures.
Synonyms:exact_synonym: NEDSCAC
 primary_id: OMIM:619286
For additional species annotation, visit the Alliance of Genome Resources.


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NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med27 mediator complex subunit 27 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA ClinVar
OMIM
PMID:33443317 NCBI chr 3:7,884,793...8,059,003
Ensembl chr 3:7,884,822...8,059,003
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Neurodevelopmental Disorders 5684
        NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 1
Path 2
Term Annotations click to browse term
  disease 17150
    disease of anatomical entity 16494
      nervous system disease 12094
        central nervous system disease 10374
          brain disease 9730
            disease of mental health 7036
              Neurodevelopmental Disorders 5684
                Developmental Disabilities 556
                  cerebellar hypoplasia 42
                    NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 1
paths to the root