Synonyms: monogenic disease with epilepsy
Term information
- GARD:20086 (MONDO:GARD)
- MEDGEN:1842675 (MONDO:equivalentTo)
- Orphanet:166472 (MONDO:equivalentTo)
- UMLS:C5680430 (MONDO:equivalentTo)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, disease_grouping, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_nervous_system_disorder, ordo_group_of_disorders
http://identifiers.org/medgen/1842675
http://linkedlifedata.com/resource/umls/id/C5680430
http://www.orpha.net/ORDO/Orphanet_166472