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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 C
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Accession:DOID:0110198 term browser browse the term
Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C;   CMTRIC;   RI-CMT type C;   RI-CMTC;   autosomal recessive intermediate Charcot-Marie-Tooth disease type C
 broad_synonym: PLEKHG5-RELATED CONDITION
 primary_id: OMIM:615376
 xref: ORDO:369867


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Charcot-Marie-Tooth disease recessive intermediate C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805598 MED14-independent group 3 enhancer GRCh37_chr1:6536823-6538022 IAGP ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C ClinVar PMID:23777631 PMID:25741868 PMID:28492532 NCBI chr 1:6,476,763...6,477,962 JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP
EXP		 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:17564964 PMID:23777631 PMID:23844677 PMID:25741868 More... NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        neuromuscular disease 4041
          Charcot-Marie-Tooth disease 875
            Charcot-Marie-Tooth disease intermediate type 293
              Charcot-Marie-Tooth disease recessive intermediate C 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          neurodegenerative disease 6568
            Nervous System Heredodegenerative Disorders 4549
              motor peripheral neuropathy 1566
                Charcot-Marie-Tooth disease 875
                  Charcot-Marie-Tooth disease intermediate type 293
                    Charcot-Marie-Tooth disease recessive intermediate C 2
paths to the root