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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 dominant distal hereditary motor neuronopathy 2
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Accession:DOID:0111206 term browser browse the term
Definition:An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. (DO)
Synonyms:exact_synonym: Charcot-Marie-Tooth Disease, Spinal, IIA;   DHMN2A;   DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2;   HMN II;   HMN IIA;   HMN2;   HMN2A;   HMND2;   autosomal dominant adult spinal muscular atrophy IIA;   distal hereditary motor neuronopathy type 2;   distal hereditary motor neuronopathy type 2A;   distal hereditary motor neuronopathy, autosomal dominant 2;   distal hereditary motor neuronopathy, type IIA;   distal hereditary motor neuropathy type II;   distal hereditary motor neuropathy type IIA;   distal spinal muscular atrophy, adult autosomal dominant, IIA
 primary_id: MESH:C563561
 alt_id: DOID:0111208;   OMIM:158590
 xref: ORDO:139525


show annotations for term's descendants           Sort by:
autosomal dominant distal hereditary motor neuronopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:7723957 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24207122 More... NCBI chr18:55,956,950...56,004,013
Ensembl chr18:55,956,959...56,003,961 		JBrowse link
G Hspb8 heat shock protein family B (small) member 8 ISO
ISS		 ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2A
CTD Direct Evidence: marker/mechanism
OMIM:158590		 OMIM
ClinVar
CTD
MouseDO		 PMID:1517763 PMID:15122253 PMID:17344846 PMID:20538880 PMID:21985219 More... NCBI chr12:40,176,405...40,205,002
Ensembl chr12:40,176,532...40,191,185 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2 ClinVar PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        neuromuscular disease 3051
          Charcot-Marie-Tooth disease 660
            Charcot-Marie-Tooth disease type 2 258
              autosomal dominant distal hereditary motor neuronopathy 2 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              motor neuron disease 530
                spinal muscular atrophy 152
                  autosomal dominant distal hereditary motor neuronopathy 34
                    autosomal dominant distal hereditary motor neuronopathy 2 3
paths to the root