Term information
- GARD:18977 (MONDO:GARD)
- UMLS:C5547641 (MONDO:equivalentTo)
- Orphanet:79215 (MONDO:equivalentTo)
- MEDGEN:1787409 (MONDO:equivalentTo)
- SCTID:1155842003 (https://orcid.org/0009-0002-1597-2198)
- icd11.foundation:1805681916 (Orphanet:79215)
gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, disease_grouping, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_metabolic_disease
http://www.orpha.net/ORDO/Orphanet_79215
http://identifiers.org/medgen/1787409
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1805681916
http://linkedlifedata.com/resource/umls/id/C5547641
http://identifiers.org/snomedct/1155842003