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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:Riley-Day syndrome
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Accession:DOID:11589 term browser browse the term
Definition:A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. (DO)
Synonyms:exact_synonym: DYS;   FD;   HSAN (hereditary sensory and autonomic neuropathy) type III;   HSAN 3;   HSAN III;   HSAN type III;   HSAN3;   HSN-III;   Hereditary Sensory and Autonomic Neuropathy Type III;   dominant hereditary sensory neuropathy, type 3;   dominant hereditary sensory neuropathy, type III;   familial autonomic nervous dysfunction;   familial dysautonomia;   hereditary and autonomic neuropathy, type III;   hereditary sensory and autonomic neuropathy 3;   hereditary sensory neuropathy type 3
 primary_id: MESH:D004402
 alt_id: OMIM:223900
 xref: ICD10CM:G90.1;   NCI:C84706
For additional species annotation, visit the Alliance of Genome Resources.


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Riley-Day syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator acetyltransferase complex subunit 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:223900
ClinVar Annotator: match by term: Familial dysautonomia		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9536098 PMID:10090896 PMID:11179008 PMID:11179021 PMID:12116234 More... RGD:5129156, RGD:5129155 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Riley-Day syndrome 1
        Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          neurodegenerative disease 4856
            Nervous System Heredodegenerative Disorders 3215
              hereditary sensory neuropathy 51
                Riley-Day syndrome 1
                  Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
paths to the root