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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:32934225 PMID:33048237 NCBI chr 6:91,611,021...91,676,394 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Language Development Disorders 72
        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  communication disorder 203
                    language disorder 122
                      Language Development Disorders 72
                        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 1
paths to the root