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Metadata
ID DOID:11589
Name Riley-Day syndrome
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.
https://pubmed.ncbi.nlm.nih.gov/26769677/
Xrefs

ICD10CM:G90.1

MESH:D004402

NCI:C84706

OMIM:223900

SNOMEDCT_US_2023_03_01:204087006

UMLS_CUI:C0013364

Subsets

NCIthesaurus

Synonyms

familial autonomic nervous dysfunction [EXACT]

familial dysautonomia [EXACT]

HSAN III [EXACT]

Parent Relationships

is_a hereditary sensory neuropathy

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