Disease_Mapped_To_Gene
Cellosaurus Disease Terminology
ACC/AHA Pediatric and Congenital Cardiology EHR Terminology
ELP1 Gene
Cellosaurus Terminology
Dysautonomia
Rare Non-Neoplastic Disorder
Familial Dysautonomia
A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
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.
ACC/AHA
C0013364
C84706
Cellosaurus
Disease or Syndrome
Familial Dysautonomia
Familial Dysautonomia
Familial dysautonomia
HSAN 3
HSAN III
Hereditary Sensory and Autonomic Neuropathy Type III
Neuropathy, Hereditary Sensory and Autonomic, Type III
Riley- Day
Riley-Day Syndrome
hereditary sensory and autonomic neuropathy type III