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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


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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 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 21122
    sensory system disease 6884
      eye disease 3446
        Hereditary Eye Diseases 1068
          Hereditary Optic Atrophies 74
            Charcot-Marie-Tooth disease X-linked recessive 5 1
Path 2
Term Annotations click to browse term
  disease 21122
    Pathological Conditions, Signs and Symptoms 13262
      Signs and Symptoms 10746
        Neurologic Manifestations 9984
          sensory system disease 6884
            Otorhinolaryngologic Diseases 1700
              auditory system disease 956
                Hearing Disorders 785
                  Hearing Loss 781
                    sensorineural hearing loss 595
                      cortical deafness 16
                        Charcot-Marie-Tooth disease X-linked recessive 5 1
paths to the root