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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 type 4A
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Accession:DOID:0110185 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. (DO)
Synonyms:exact_synonym: CMT4A;   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive;   Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A;   Charcot-Marie-Tooth neuropathy type 4A
 primary_id: MESH:C535419
 alt_id: OMIM:214400;   RDO:0000520
 xref: ORDO:99948


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Charcot-Marie-Tooth disease type 4A 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 term: Charcot-Marie-Tooth Neuropathy Type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive OMIM
ClinVar		 PMID:257 PMID:9536098 PMID:11743579 PMID:11743580 PMID:12499475 More... NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049 		JBrowse link
G JPH1 junctophilin 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 4:61,628,304...61,716,550
Ensembl chr 4:61,628,299...61,716,544 		JBrowse link
G LY96 lymphocyte antigen 96 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 4:61,919,806...61,950,712
Ensembl chr 4:61,926,064...61,950,697 		JBrowse link
G TMEM70 transmembrane protein 70 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4A ClinVar PMID:28492532 NCBI chr 4:61,958,605...61,966,041
Ensembl chr 4:61,958,605...61,966,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      musculoskeletal system disease 7668
        neuromuscular disease 2980
          Charcot-Marie-Tooth disease 647
            Charcot-Marie-Tooth disease type 4 61
              Charcot-Marie-Tooth disease type 4A 4
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          neurodegenerative disease 4657
            Nervous System Heredodegenerative Disorders 3193
              motor peripheral neuropathy 1185
                Charcot-Marie-Tooth disease 647
                  Charcot-Marie-Tooth disease type 4 61
                    Charcot-Marie-Tooth disease type 4A 4
paths to the root