• GARD:18509 (MONDO:GARD)
• UMLS:C4540014 (MONDO:equivalentTo)
• MEDGEN:1624065 (MONDO:equivalentTo)
• OMIM:617661 (MONDO:equivalentTo)

gard_rare, mondo_top_grouping_member, matrix_llm__medical_specialization_member, matrix_llm__tag_existing_treatment_false, matrix_llm__is_glucose_dysfunction_false, nord_rare, matrix_included, clingen, matrix_llm__medical_specialization_cardiology, matrix_llm__is_glucose_dysfunction_member, matrix_llm__is_pathogen_caused_false, matrix_txgnn_grouping_member, rare, mondo_top_grouping_cardiovascular_disorder, matrix_llm__anatomical_kidney_disorder, matrix_llm__txgnn_metabolic_disorder, matrix_llm__tag_qaly_lost_member, matrix_llm__txgnn_renal, matrix_llm__anatomical_spinal_disorder, matrix_llm__txgnn_cardiovascular_disorder, matrix_llm__tag_qaly_lost_high, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__is_cancer_false, mondo_top_grouping_hereditary_disease, matrix_llm__medical_specialization_renal_medicine, matrix_txgnn_grouping_cardiovascular_disorder, matrix_llm__tag_existing_treatment_member, matrix_llm__is_pathogen_caused_member, matrix_llm__anatomical_heart_disorder, matrix_llm__medical_specialization_pediatric, matrix_llm__txgnn_member, harrisons_view_cardiovascular_disorder, harrisons_view_member, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_genetics_and_genomics, matrix_llm__is_cancer_member, matrix_llm__anatomical_member

• congenital vertebral-cardiac-renal anomalies syndrome and has material basis in germline mutation in some KYNU

• congenital vertebral-cardiac-renal anomalies syndrome
• has material basis in germline mutation in some KYNU