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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 X-linked recessive 4
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Accession:DOID:0110212 term browser browse the term
Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: CMT4X;   CMTX4;   COWCK;   Charcot-Marie-Tooth disease X-linked recessive, type 4;   Charcot-Marie-Tooth disease with deafness and mental retardation;   Cowchock syndrome;   NADMR;   NAMSD;   X-linked Charcot-Marie-Tooth disease type 4;   X-linked recessive Charcot-Marie-Tooth disease 4 with or without cerebellar ataxia;   axonal motor-sensory neuropathy with deafness and mental retardation
 primary_id: MESH:C536450
 alt_id: OMIM:310490
 xref: ORDO:101078

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Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation OMIM
ClinVar		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Neurodevelopmental Disorders 6190
        intellectual disability 3919
          X-Linked Intellectual Developmental Disorders 710
            Charcot-Marie-Tooth disease X-linked recessive 4 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              developmental disorder of mental health 4976
                specific developmental disorder 4103
                  intellectual disability 3919
                    X-Linked Intellectual Developmental Disorders 710
                      Charcot-Marie-Tooth disease X-linked recessive 4 2
paths to the root