Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

autosomal recessive hereditary sensory and autonomic neuropathy

Synonyms

hereditary sensory and autonomic neuropathy, autosomal recessive

Definitions

A form of hereditary sensory autonomic neuropathy (HSAN) with autosomal recessive inheritance. HSANs are a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers. Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.

ID

http://www.ebi.ac.uk/efo/EFO_0700034

comment

Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also.

database_cross_reference

UMLS:CN228933

Orphanet:140477

definition

A form of hereditary sensory autonomic neuropathy (HSAN) with autosomal recessive inheritance. HSANs are a group of rare peripheral neuropathies where neurons and/or axons are affected. The major feature of these conditions is the loss of large myelinated and unmyelinated fibers.

has_exact_synonym

hereditary sensory and autonomic neuropathy, autosomal recessive

label

autosomal recessive hereditary sensory and autonomic neuropathy

preferred label

autosomal recessive hereditary sensory and autonomic neuropathy

prefixIRI

efo1:EFO_0700034

prefLabel

autosomal recessive hereditary sensory and autonomic neuropathy

subClassOf

http://www.ebi.ac.uk/efo/EFO_0700115

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