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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 5
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Accession:DOID:0110210 term browser browse the term
Definition:A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. (DO)
Synonyms:exact_synonym: CMT5X;   CMTX5;   Familial opticoacoustic nerve degeneration and polyneuropathy;   Optic Atrophy Polyneuropathy Deafness;   Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive;   Optic atrophy, neural deafness, and distal neurogenic amyotrophy;   Optic atrophy, polyneuropathy, and deafness;   Rosenberg Chutorian syndrome;   X-linked Charcot-Marie-Tooth disease type 5;   X-linked recessive Charcot-Marie-Tooth neuropathy 5;   optic atrophy, sensorineural hearing loss and polyneuropathy
 primary_id: MESH:C537129
 alt_id: OMIM:311070
 xref: ORDO:99014
For additional species annotation, visit the Alliance of Genome Resources.


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Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by OMIM:311070
ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED RECESSIVE, 5
OMIM
ClinVar
PMID:17701900 PMID:24285972 PMID:25182139 PMID:25491489 PMID:28492532 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        muscular disease 1167
          atrophic muscular disease 315
            Charcot-Marie-Tooth disease X-linked recessive 5 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            disease of mental health 6024
              developmental disorder of mental health 3164
                specific developmental disorder 2345
                  communication disorder 207
                    agnosia 24
                      cortical deafness 5
                        Charcot-Marie-Tooth disease X-linked recessive 5 1
paths to the root