[X] peroxisomal single enzyme/protein defect
Go to external page http://purl.obolibrary.org/obo/MONDO_0100257
Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein. [ https://www.clinicalgenome.org/affiliation/40049/ ]
Synonyms: peroxisomal single enzyme/protein defect
Term information
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, 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, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease