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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


show annotations for term's descendants           Sort by:
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 Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with speech delay and axonal peripheral neuropathy ClinVar PMID:25741868 NCBI chr 6:87,777,183...87,791,609
Ensembl chr 6:87,777,183...87,804,187 		JBrowse link
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:33004807 PMID:33048237 NCBI chr 6:87,791,650...87,835,826
Ensembl chr 6:87,791,656...87,835,841 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Language Development Disorders 65
        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  communication disorder 403
                    language disorder 158
                      Language Development Disorders 65
                        Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 2
paths to the root