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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:Charcot-Marie-Tooth disease recessive intermediate A
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Accession:DOID:0110201 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. (DO)
Synonyms:exact_synonym: CMTRIA;   Charcot-Marie-Tooth neuropathy, recessive intermediate A;   RI-CMTA;   autosomal recessive intermediate Charcot-Marie-Tooth disease type A
 primary_id: MESH:C564256
 alt_id: OMIM:608340;   RDO:0013281
 xref: ORDO:217055
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease recessive intermediate A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by OMIM:608340
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate A
ClinVar Annotator: match by term: RI-CMTA
OMIM
ClinVar
PMID:12499475 PMID:12566285 PMID:14561495 PMID:16172208 PMID:17039978 PMID:17433678 PMID:18021315 PMID:18504680 PMID:18812441 PMID:18991200 PMID:19500985 PMID:20232219 PMID:21212451 PMID:21322820 PMID:21365284 PMID:21890626 PMID:25231362 PMID:25614874 PMID:25741868 PMID:26467025 PMID:28220846 PMID:28492532 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        neuromuscular disease 1763
          Charcot-Marie-Tooth disease 325
            Charcot-Marie-Tooth disease intermediate type 189
              Charcot-Marie-Tooth disease recessive intermediate A 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                Charcot-Marie-Tooth disease 325
                  Charcot-Marie-Tooth disease intermediate type 189
                    Charcot-Marie-Tooth disease recessive intermediate A 1
paths to the root