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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:An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
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 Neuropathy Type 3;   Hereditary Sensory and Autonomic Neuropathy 3;   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
 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 complex protein 1 ISO ClinVar Annotator: match by OMIM:223900
ClinVar Annotator: match by term: Familial dysautonomia
OMIM
ClinVar
PMID:9536098, PMID:10090896, PMID:11179008, PMID:11179021, PMID:12116234, PMID:12687659, PMID:16964593, PMID:17206408, PMID:18303054, PMID:20301359, PMID:22190446, PMID:22850346, PMID:23515154, PMID:24033266, PMID:24173031, PMID:24995671, PMID:25741868, PMID:26264438, PMID:26392352, PMID:27065010, PMID:27104957, PMID:27582484, PMID:28492532, PMID:11179008, PMID:11179021 RGD:5129156, RGD:5129155 NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      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 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              hereditary sensory neuropathy 27
                Riley-Day syndrome 1
                  Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.