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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 1I
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Accession:DOID:9000624 term browser browse the term
Definition:A neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. Caused by heterozygous mutation in the POLR3B gene on chromosome 12q23.
Synonyms:exact_synonym: CMT1I;   Charcot-Marie-Tooth disease, demyelinating, type 1I;   Charcot-Marie-Tooth neuropathy, type 1I
 primary_id: OMIM:619742


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Charcot-Marie-Tooth Disease Type 1I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1I OMIM
ClinVar		 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        neuromuscular disease 3052
          Charcot-Marie-Tooth disease 660
            Charcot-Marie-Tooth disease type 1 64
              Charcot-Marie-Tooth Disease Type 1I 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          neurodegenerative disease 4894
            Nervous System Heredodegenerative Disorders 3248
              motor peripheral neuropathy 1202
                Charcot-Marie-Tooth disease 660
                  Charcot-Marie-Tooth disease type 1 64
                    Charcot-Marie-Tooth Disease Type 1I 1
paths to the root