Experimental Factor Ontology

Last uploaded: April 15, 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

UMLS:C0270763

GARD:19478

definition

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

exactMatch

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

http://identifiers.org/snomedct/49793008

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

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#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

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

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

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

label

hereditary motor neuron disease

notation

MONDO:0024257

preferred label

hereditary motor neuron disease

prefLabel

hereditary motor neuron disease

subClassOf

http://www.ebi.ac.uk/efo/EFO_0003782

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

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

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