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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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 ClinVar PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      auditory system disease 1068
        inner ear disease 789
          sensorineural hearing loss 651
            Charcot-Marie-Tooth disease X-linked recessive 4 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            disease of mental health 7489
              developmental disorder of mental health 4860
                specific developmental disorder 4124
                  intellectual disability 3939
                    X-Linked Intellectual Developmental Disorders 754
                      Charcot-Marie-Tooth disease X-linked recessive 4 2
paths to the root