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A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. [ NCI ]

Synonyms: Riley- Day Riley-Day Syndrome Familial dysautonomia hereditary sensory and autonomic neuropathy type III HSAN 3 Neuropathy, Hereditary Sensory and Autonomic, Type III Hereditary Sensory and Autonomic Neuropathy Type III HSAN III Familial Dysautonomia

This is just here as a test because I lose it

Term information

Subsets

NCIT_C165258, NCIT_C167409

ALT DEFINITION

A dysautonomia due to a genetic disorder associated with an abnormality of the sensory and autonomic nerves, decreased sensation of pain and decreased production of tears.

Contributing Source

Cellosaurus

ACC/AHA

Preferred Name

Familial Dysautonomia

Semantic Type

Disease or Syndrome

UMLS CUI

C0013364

code

C84706

Term relations