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neuropathy, hereditary sensory and autonomic, type 2A

^ 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 ]

Term info

database cross reference
  • UMLS:C0751540 (MedGen:148334)
  • OMIM:201300 (MONDO:equivalentTo)
  • DOID:0070155 (MONDO:equivalentTo)
abbreviation
HSAN2A [ OMIM:201300 DOID:0070155 ]

dubious synonym
Morvan disease [ PMID:13235976 OMIM:201300 ]

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

definition

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

exactMatch

https://omim.org/entry/201300, http://purl.obolibrary.org/obo/DOID_0070155

has exact synonym

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 II, HSAN 2A, HSN 2A

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