loading...| Preferred Name |
Dysautonomia, Familial |
|
| Synonyms |
Type 3 Hereditary Sensory Neuropathy, Dominant |
|
| Definitions |
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) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D004402 |
|
| altLabel |
Type 3 Hereditary Sensory Neuropathy, Dominant HSN-III Hereditary Sensory Neuropathy, Dominant, Type 3 HSAN3 HSAN Type III Hereditary Sensory and Autonomic Neuropathy Type III HSAN (Hereditary Sensory and Autonomic Neuropathy) Type III Riley-Day Syndrome HSAN 3 Hereditary-Sensory and Autonomic Neuropathy Type III Neuropathy, Hereditary and Autonomic, Type III Type III Hereditary Sensory Neuropathy, Dominant Hereditary Sensory Neuropathy, Type 3, Dominant Hereditary Sensory Neuropathy Type 3 Familial Dysautonomia Neuropathy, Hereditary Sensory And Autonomic, Type III Riley Day Syndrome Hereditary Sensory and Autonomic Neuropathy 3 Dominant Hereditary Sensory Neuropathy, Type III Hereditary Sensory Neuropathy, Dominant, 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 |
|
| cui |
C0013364 |
|
| DC |
1 |
|
| definition |
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) |
|
| DX |
19810101 |
|
| HN |
1981; uss AUTONOMIC DYSFUNCTION 1963-1980 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1981; see AUTONOMIC DYSFUNCTION 1963-1980 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20180630 |
|
| MN |
C10.177.575.300 C16.131.666.310.309 C10.574.500.493.250 C10.500.250.309 C10.668.829.800.175.250 C16.320.400.415.309 |
|
| notation |
D004402 |
|
| prefLabel |
Dysautonomia, Familial |
|
| TERMUI |
T013435 T750980 T843769 T369090 T753159 T369085 T369088 T013436 T369091 T369086 T843768 T369083 T013437 T753160 T369087 T369089 T369084 T822990 T841373 T000903212 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1966) UNK (19XX) NLM (2010) GHR (2014) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |