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neuropathy, hereditary sensory and autonomic, type 2A

Go to external page http://purl.obolibrary.org/obo/MONDO_0024309

A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13 [ DOID:0070155 ]

Synonyms: neuropathy, hereditary sensory, type 2A neuropathy, hereditary sensory and autonomic, type IIA HSAN2A hereditary sensory and autonomic neuropathy type IIA neuropathy, hereditary sensory and autonomic, type 2A neuropathy, hereditary sensory and autonomic, type II HSAN 2A HSN 2A

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

comment

Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125

exactMatch

https://omim.org/entry/201300

http://purl.obolibrary.org/obo/DOID_0070155

has related synonym

hereditary sensory and autonomic neuropathy type 2A

Morvan disease

acroosteolysis, neurogenic

neuropathy, congenital sensory

acroosteolysis, Giaccai type

neuropathy, hereditary sensory radicular, autosomal recessive

neuropathy, progressive sensory, of children

id

MONDO:0024309

relatedMatch

http://linkedlifedata.com/resource/umls/id/C0751540

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0024309