Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

hereditary motor neuron disease
Synonyms

hereditary motor neuron disease

genetic motor neuron disease

genetic anterior horn cell disease

Definitions

An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.

ID

http://purl.obolibrary.org/obo/MONDO_0024257

database_cross_reference

Orphanet:98505

SCTID:49793008

MEDGEN:78728

UMLS:C0270763

GARD:19478

definition

An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.

has_exact_synonym

hereditary motor neuron disease

genetic motor neuron disease

genetic anterior horn cell disease

id

MONDO:0024257

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

label

hereditary motor neuron disease

notation

MONDO:0024257

prefLabel

hereditary motor neuron disease

skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_98505

http://identifiers.org/snomedct/49793008

http://identifiers.org/medgen/78728

http://linkedlifedata.com/resource/umls/id/C0270763

treeView

http://purl.obolibrary.org/obo/MONDO_0020128

http://purl.obolibrary.org/obo/MONDO_0024237

http://purl.obolibrary.org/obo/MONDO_0100546

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020128

http://purl.obolibrary.org/obo/MONDO_0024237

http://purl.obolibrary.org/obo/MONDO_0100546

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