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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: MIM:311070
 xref: ORDO:99014


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy		 OMIM
CTD
ClinVar		 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    sensory system disease 7330
      eye disease 3696
        Hereditary Eye Diseases 1119
          Hereditary Optic Atrophies 83
            Charcot-Marie-Tooth disease X-linked recessive 5 1
Path 2
Term Annotations click to browse term
  disease 19102
    Pathological Conditions, Signs and Symptoms 13607
      Signs and Symptoms 11167
        Neurologic Manifestations 10421
          sensory system disease 7330
            Otorhinolaryngologic Diseases 1791
              auditory system disease 1051
                Hearing Disorders 840
                  Hearing Loss 835
                    sensorineural hearing loss 642
                      cortical deafness 40
                        Charcot-Marie-Tooth disease X-linked recessive 5 1
paths to the root