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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 3:12,629,593...12,803,340
Ensembl chr 3:12,629,603...12,803,339
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Neurodevelopmental Disorders 6103
        NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              Neurodevelopmental Disorders 6103
                Developmental Disabilities 626
                  cerebellar hypoplasia 42
                    NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA 1
paths to the root