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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:Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
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Accession:DOID:9000609 term browser browse the term
Synonyms:exact_synonym: ACPHD
 primary_id: MIM:616192



show annotations for term's descendants           Sort by:
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus OMIM
ClinVar
PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469 NCBI chr15:96,025,605...96,068,585
Ensembl chr15:96,025,624...96,065,181
JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 5:116,120,069...116,283,448
Ensembl chr 5:116,119,676...116,283,448
JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    sensory system disease 7183
      Hearing Disorders 827
        Hearing Loss 822
          Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus 3
Path 2
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      nervous system disease 14218
        central nervous system disease 12558
          brain disease 11786
            movement disease 2625
              Dyskinesias 2228
                Ataxia 953
                  hereditary ataxia 630
                    cerebellar ataxia 480
                      Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus 3
paths to the root