Human Disease Ontology

Last uploaded: September 28, 2024
Preferred Name

hereditary sensory neuropathy
Synonyms

hereditary sensory and autonomic neuropathy

familial dysautonomia, type II

Definitions

A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_0050548

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

MIM:PS162400

MESH:D009477

definition

A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.

has exact synonym

hereditary sensory and autonomic neuropathy

familial dysautonomia, type II

has_obo_namespace

disease_ontology

id

DOID:0050548

in_subset

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

hereditary sensory neuropathy

notation

DOID:0050548

prefLabel

hereditary sensory neuropathy

subClassOf

http://purl.obolibrary.org/obo/DOID_870

Delete Subject Author Type Created
No notes to display