Terminology Service for NFDI4Health
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)
Instance info
Synonyms
Neuropathie, heriditäre und autonome, Typ III (DE), Neuropathy, Hereditary and Autonomic, Type III, HSAN 3, Riley-Day-Syndrom (DE), Dominant Hereditary Sensory Neuropathy, Type III, Hereditary Sensory Neuropathy, Dominant, Type 3, HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III, Type III Hereditary Sensory Neuropathy, Dominant, Riley Day Syndrome, Riley-Day Syndrome, Hereditary Sensory Neuropathy, Type 3, Dominant, Neuropathy, Hereditary Sensory And Autonomic, Type III, HSAN3, Heriditäre-sensorische-autonome Neuropathie Typ III (DE), Hereditary Sensory and Autonomic Neuropathy 3, Familial Dysautonomia, HSAN Type III, Hereditary Sensory Neuropathy, Dominant, Type III, Dysautonomie, familiäre (DE), Hereditary Sensory Neuropathy Type 3, Hereditary-Sensory and Autonomic Neuropathy Type III, Type 3 Hereditary Sensory Neuropathy, Dominant, HSAN-Typ III (DE), HSN-III, Hereditary Sensory and Autonomic Neuropathy Type III, HSAN III
AN
PRIMARY DYSAUTONOMIAS is also available
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
DC
1
DX
19810101
HN
1981; uss AUTONOMIC DYSFUNCTION 1963-1980
MDA
19990101
MMR
20180630
MN
C10.668.829.800.175.250,C16.320.400.415.309,C16.131.666.310.309,C10.177.575.300,C10.574.500.493.250,C10.500.250.309
PM
1981; see AUTONOMIC DYSFUNCTION 1963-1980
QB
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503
SIB
http://purl.bioontology.org/ontology/MESH/D054970,http://purl.bioontology.org/ontology/MESH/D019578,http://purl.bioontology.org/ontology/MESH/D054971
TERMUI
T369091,T841373,T000903212,T753160,T369090,T013437,T013435,T013436,T369088,T369089,T369086,T369087,T369084,T369085,T369083,T750980,T843769,T843768,T753159,T822990
TH
GHR (2014),ORD (2010),OMIM (2013),NLM (1966),NLM (2000),NLM (2010),UNK (19XX),NLM (2014)
cui
C0013364
hasSTY
http://purl.bioontology.org/ontology/STY/T047,http://purl.bioontology.org/ontology/STY/T019
mapped from
http://purl.bioontology.org/ontology/MESH/C563517
tui
T019,T047
Instance relations
Types