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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:juvenile amyotrophic lateral sclerosis 4
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Accession:DOID:0060196 term browser browse the term
Definition:An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO)
Synonyms:exact_synonym: ALS 4;   ALS4;   amyotrophic lateral sclerosis 4;   amyotrophic lateral sclerosis type 4;   dHMN with upper motor neuron signs;   distal hereditary motor neuronopathy with pyramidal features;   distal hereditary motor neuropathy with pyramidal features;   distal hereditary motor neuropathy with upper motor neuron signs
 broad_synonym: SETX-RELATED CONDITION;   SETX-related disorder;   SETX-related disorders
 primary_id: MESH:C566550
 alt_id: OMIM:602433
 xref: GARD:10502;   ICD10CM:G12.2;   ORDO:357043


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juvenile amyotrophic lateral sclerosis 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Setx senataxin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:602433
ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4		 OMIM
CTD
MouseDO
ClinVar		 PMID:9467005 PMID:9497266 PMID:9536098 PMID:14770181 PMID:15106121 More... NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        Proteostasis Deficiencies 793
          TDP-43 Proteinopathies 421
            amyotrophic lateral sclerosis 382
              Juvenile Amyotrophic Lateral Sclerosis 11
                juvenile amyotrophic lateral sclerosis 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              motor neuron disease 531
                MOTOR NEURON ATROPHY 382
                  amyotrophic lateral sclerosis 382
                    Juvenile Amyotrophic Lateral Sclerosis 11
                      juvenile amyotrophic lateral sclerosis 4 1
paths to the root