FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Riley-Day syndrome ID (Ontology) DOID:11589 (Human Disease)
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.
Also Known As "familial autonomic nervous dysfunction" ; "familial dysautonomia" ; "HSAN III"
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 Genes
 Riley-Day syndrome       1
 for disease ribbon | Riley-Day syndrome       1
 model of | Riley-Day syndrome       1
Spanning Tree (Parents/Children)
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  neuropathy
   |__hereditary sensory neuropathy
       |__Riley-Day syndrome  1 rec.
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Is a hereditary sensory neuropathy
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Synonyms
  • "familial autonomic nervous dysfunction" EXACT
    "familial dysautonomia" EXACT
    "HSAN III" EXACT OMO:0003012
Secondary IDs
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ICD10CM:G90.1
MESH:D004402
MIM:223900
NCI:C84706
SNOMEDCT_US_2023_03_01:204087006
UMLS_CUI:C0013364