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autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis - Ontology Report - Rat Genome Database

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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:autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis
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Accession:DOID:0051028 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 4 that is characterized by the absence of sensory loss with an onset age of 15 to 25 years and that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 22-kD protein-8 (HSPB8) on chromosome 12q24. (DO)
Synonyms:exact_synonym: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE;   Charcot-Marie-Tooth Disease Type 4A, Axonal Form;   Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive;   Charcot-Marie-Tooth with vocal cord paresis;   NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
 alt_id: DOID:9003332
 xref: MESH:C539595;   MIM:607706;   MONDO:0011898

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autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 4A, axonal form | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | ClinVar Annotator: match by term: Charcot-Marie-Tooth with Vocal Cord Paresis | ClinVar Annotator: match by term: Neuropathy, axonal, with vocal cord paresis, autosomal recessive OMIM
ClinVar		 PMID:11743579 PMID:11743580 PMID:12499475 PMID:12566285 PMID:12601710 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22781092 PMID:27686364 NCBI chr 3:16,223,367...16,264,261
Ensembl chr 3:16,223,367...16,264,154 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    sensory system disease 7372
      Otorhinolaryngologic Diseases 1798
        laryngeal disease 68
          Vocal Cord Paralysis 10
            autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis 2
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        central nervous system disease 12646
          neurodegenerative disease 5079
            Nervous System Heredodegenerative Disorders 3371
              motor peripheral neuropathy 1304
                Charcot-Marie-Tooth disease 729
                  Charcot-Marie-Tooth disease type 4 62
                    autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis 2
paths to the root