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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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
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Accession:DOID:9006881 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth. The phenotype is highly variable.
Synonyms:exact_synonym: IDPOGSA
 primary_id: OMIM:618808
For additional species annotation, visit the Alliance of Genome Resources.



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INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca2 ATP binding cassette subfamily A member 2 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
ClinVar Annotator: match by term: Intellectual developmental disorder with poor growth and with or without seizures or ataxia
OMIM
ClinVar
PMID:25741868 PMID:30237576 NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        intellectual disability 3475
          INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA 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
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA 1
paths to the root