Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

monogenic epilepsy
Synonyms

monogenic disease with epilepsy

ID

http://purl.obolibrary.org/obo/MONDO_0015653

database_cross_reference

Orphanet:166472

UMLS:C5680430

MEDGEN:1842675

GARD:20086

exactMatch

http://purl.obolibrary.org/obo/Orphanet_166472

http://identifiers.org/medgen/1842675

http://linkedlifedata.com/resource/umls/id/C5680430

has_exact_synonym

monogenic disease with epilepsy

id

MONDO:0015653

in_subset

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

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

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

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

label

monogenic epilepsy

notation

MONDO:0015653

preferred label

monogenic epilepsy

prefLabel

monogenic epilepsy

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000474

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