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Disease Ontology Browser
familial dysautonomia (DOID:11589)
Alliance: disease page
Synonyms: hereditary sensory and autonomic neuropathy type 3; hereditary sensory and autonomic neuropathy type III; HSAN3; HSAN III; Riley-Day syndrome
Alt IDs: OMIM:223900, ICD10CM:G90.1, MESH:D004402, NCI:C84706, ORDO:1764, UMLS_CUI:C0013364
Definition: A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death.

Disease References using Mouse Models (8)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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03/31/2026
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