DO_rare_slim NCIthesaurus has material basis in existence starts during hereditary sensory and autonomic neuropathy autosomal recessive disease familial dysautonomia NCI:C84706 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. MESH:D004402 UMLS_CUI:C0013364 ORDO:1764 NCI:C84706 DOID:11589 MIM:223900 SNOMEDCT_US_2025_09_01:29159009 ORDO:1764 MIM:223900 MESH:D004402 ICD10CM:G90.1 disease_ontology UMLS_CUI:C0013364 GARD:7581 ICD10CM:G90.1 GARD:7581 HSAN III HSAN3 Riley-Day syndrome hereditary sensory and autonomic neuropathy type 3 hereditary sensory and autonomic neuropathy type III autosomal recessive inheritance Congenital onset Neonatal onset