• OMIM:609069 (Orphanet:65288/e)
• MEDGEN:332288 (MONDO:equivalentTo)
• Orphanet:65288 (OMIM:609069)
• GARD:16670 (MONDO:GARD)
• MESH:C563796 (MONDO:equivalentTo)
• UMLS:C1836780 (MONDO:equivalentTo)

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, harrisons_view_endocrine_system_disorder, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, matrix_txgnn_grouping_endocrine_system_disorder, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_diabetes_mellitus, mondo_top_grouping_digestive_system_disorder, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_endocrine_system_disorder, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, harrisons_view_digestive_system_disorder, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_metabolic_disease

• [X] hereditary neurological disease
• [X] central nervous system malformation
• [X] developmental anomaly of metabolic origin
• neonatal diabetes mellitus
• disease has major feature some [X] central nervous system malformation
• has material basis in germline mutation in some PTF1A