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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 Speech Delay and Axonal Peripheral Neuropathy
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Accession:DOID:9004881 term browser browse the term
Synonyms:exact_synonym: IDDSAPN
 primary_id: OMIM:619099
For additional species annotation, visit the Alliance of Genome Resources.



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Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY OMIM
ClinVar
PMID:25741868 PMID:27431290 PMID:33004807 PMID:33048237 NCBI chr 6:87,791,650...87,835,826 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Language Development Disorders 81
        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          brain disease 9778
            disease of mental health 7064
              developmental disorder of mental health 4402
                specific developmental disorder 3664
                  communication disorder 291
                    language disorder 147
                      Language Development Disorders 81
                        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 1
paths to the root