• OMIM:617810 (Orphanet:529665)
• Orphanet:529665 (MONDO:equivalentTo)
• UMLS:C4540520 (MONDO:equivalentTo)
• MEDGEN:1615160 (MONDO:equivalentTo)
• GARD:17969 (MONDO:GARD)

matrix_llm__is_cancer_other, gard_rare, ordo_disorder, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, clingen, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, orphanet_rare, 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_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease

• [X] congenital disorder of glycosylation
• [X] autosomal recessive disease
• [X] developmental anomaly of metabolic origin
• [X] inherited lipid metabolism disorder
• [X] multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• [X] disorder of GPI anchor biosynthesis
• disease has major feature some [X] central nervous system malformation
• has material basis in germline mutation in some GPAA1