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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 DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
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Accession:DOID:9007202 term browser browse the term
Definition:This is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. Brain imaging shows abnormalities of the cerebellum.
Synonyms:exact_synonym: NEDFACH
 primary_id: OMIM:619306
For additional species annotation, visit the Alliance of Genome Resources.



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NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc2 exocyst complex component 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA ClinVar
OMIM
PMID:32639540 NCBI chr17:33,506,289...33,698,246
Ensembl chr17:33,506,338...33,693,289
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Neurodevelopmental Disorders 6147
        Developmental Disabilities 656
          cerebellar hypoplasia 42
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      nervous system disease 13174
        central nervous system disease 11297
          brain disease 10584
            disease of mental health 7496
              Neurodevelopmental Disorders 6147
                Developmental Disabilities 656
                  cerebellar hypoplasia 42
                    NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA 1
paths to the root