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 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://www.limics.org/hrdo/rdfns#pat_id_16975 | HRDO | LOOM | |
http://www.orpha.net/ORDO/Orphanet_140477 | ORDO | LOOM | |
http://purl.obolibrary.org/obo/MONDO_0015366 | DOVES | LOOM | |
http://www.orpha.net/ORDO/Orphanet_140477 | ORDO | LOOM |