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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:hyperekplexia 4
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Accession:DOID:0080581 term browser browse the term
Definition:A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: HKPX4
 primary_id: OMIM:618011
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hyperekplexia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad1 ATPase family, AAA domain containing 1 ISO ClinVar Annotator: match by term: Hyperekplexia 4 OMIM
ClinVar		 PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          hyperekplexia 8
            hyperekplexia 4 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              muscular disease 1453
                Muscle Rigidity 13
                  hyperekplexia 8
                    hyperekplexia 4 1
paths to the root