RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)
Synonyms:
exact_synonym:
DYS; FD; HSAN (hereditary sensory and autonomic neuropathy) type III; HSAN 3; HSAN III; HSAN type III; HSAN3; HSN-III; Hereditary Sensory Neuropathy Type 3; Hereditary Sensory and Autonomic Neuropathy 3; Hereditary Sensory and Autonomic Neuropathy Type III; dominant hereditary sensory neuropathy, type 3; dominant hereditary sensory neuropathy, type III; familial autonomic nervous dysfunction; familial dysautonomia; hereditary and autonomic neuropathy, type III