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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: Cowchock syndrome
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
OMIM
ClinVar
PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28166811 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation
ClinVar Annotator: match by term: Cowchock syndrome
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
ClinVar PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 PMID:23806086 PMID:24088041 PMID:25583628 PMID:25590979 PMID:25741868 PMID:25934856 PMID:25986071 PMID:26173962 PMID:26257172 PMID:27102849 PMID:28166811 PMID:28492532 PMID:28842795 PMID:28967629 PMID:31523922 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Neurodevelopmental Disorders 5565
        intellectual disability 3387
          Mental Retardation, X-Linked 716
            Charcot-Marie-Tooth disease X-linked recessive 4 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            disease of mental health 6930
              developmental disorder of mental health 4270
                specific developmental disorder 3534
                  intellectual disability 3387
                    syndromic intellectual disability 751
                      Mental Retardation, X-Linked 716
                        Charcot-Marie-Tooth disease X-linked recessive 4 2
paths to the root