{"_id":"MONDO:0016826","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"13422-51-0","chemical_name":"Hydroxocobalamin","direct_evidence":"therapeutic","mesh_chemical_id":"D006879","pubmed":"19700356","source":"CTD"},"mesh":"C537359","pathway_related_to_disease":[{"inference_gene_symbol":"PRDX1","kegg_pathway_id":"hsa04146","pathway_name":"Peroxisome","source":"CTD"},{"inference_gene_symbol":"MMACHC","kegg_pathway_id":"hsa04977","pathway_name":"Vitamin digestion and absorption","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":["MMACHC","PRDX1"],"pathway_name":"Disease","react_pathway_id":"R-HSA-1643685","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Cobalamin (Cbl, vitamin B12) transport and metabolism","react_pathway_id":"R-HSA-196741","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Metabolism of water-soluble vitamins and cofactors","react_pathway_id":"R-HSA-196849","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Metabolism of vitamins and cofactors","react_pathway_id":"R-HSA-196854","source":"CTD"},{"inference_gene_symbol":"PRDX1","pathway_name":"Generic Transcription Pathway","react_pathway_id":"R-HSA-212436","source":"CTD"},{"inference_gene_symbol":"PRDX1","pathway_name":"Cellular responses to stress","react_pathway_id":"R-HSA-2262752","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Defects in cobalamin (B12) metabolism","react_pathway_id":"R-HSA-3296469","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Defects in vitamin and cofactor metabolism","react_pathway_id":"R-HSA-3296482","source":"CTD"},{"inference_gene_symbol":"PRDX1","pathway_name":"Detoxification of Reactive Oxygen Species","react_pathway_id":"R-HSA-3299685","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD","react_pathway_id":"R-HSA-3359473","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC","react_pathway_id":"R-HSA-3359474","source":"CTD"},{"inference_gene_symbol":"PRDX1","pathway_name":"Transcriptional Regulation by TP53","react_pathway_id":"R-HSA-3700989","source":"CTD"},{"inference_gene_symbol":"PRDX1","pathway_name":"TP53 Regulates Metabolic Genes","react_pathway_id":"R-HSA-5628897","source":"CTD"},{"inference_gene_symbol":"MMACHC","pathway_name":"Diseases of metabolism","react_pathway_id":"R-HSA-5668914","source":"CTD"},{"inference_gene_symbol":"PRDX1","pathway_name":"Gene Expression","react_pathway_id":"R-HSA-74160","source":"CTD"},{"inference_gene_symbol":"PRDX1","pathway_name":"Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models","react_pathway_id":"R-HSA-8862803","source":"CTD"},{"inference_gene_symbol":"PRDX1","pathway_name":"Neurodegenerative Diseases","react_pathway_id":"R-HSA-8863678","source":"CTD"}]},"hpo":{"disease_name":"Methylmalonic acidemia with homocystinuria","orphanet":"26","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000252","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000488","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000646","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001249","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001250","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001252","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001254","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001263","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001508","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001980","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0011968","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012378","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000238","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000708","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001288","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030680","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100022","orphanet_refs":"orphanet:26"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000988","orphanet_refs":"orphanet:26"}]},"mondo":{"ancestors":["MONDO:0005137","MONDO:7770009","MONDO:0000001","MONDO:0004737","MONDO:0001639","MONDO:0005570","MONDO:7770007","MONDO:0000688","MONDO:0019222","MONDO:0019189","MONDO:0005528","MONDO:0056803","MONDO:0019052","MONDO:7770008","MONDO:0024298","MONDO:0005066","MONDO:0019220","MONDO:0000226","MONDO:0042976","MONDO:0019215","MONDO:0017757","MONDO:7770006","MONDO:0002280","MONDO:0700096","MONDO:0002012","MONDO:0020696","MONDO:0037871","MONDO:0017758","MONDO:0006873","MONDO:0003847","MONDO:0016624","MONDO:0004736"],"children":["MONDO:0010183","MONDO:0010184","MONDO:0010185","MONDO:0010657","MONDO:0013925","MONDO:0975798"],"definition":"An inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). [https://orcid.org/0000-0001-5208-3432, Orphanet:26]","descendants":["MONDO:0975798","MONDO:0010185","MONDO:0010184","MONDO:0013925","MONDO:0010183","MONDO:0010657"],"disease_has_feature":{"hp":["HP:0002156"]},"label":"methylmalonic aciduria and homocystinuria","mondo":"MONDO:0016826","parents":["MONDO:0002012","MONDO:0004737","MONDO:0016624","MONDO:0019215","MONDO:0019220"],"should_conform_to":{"http":["http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"]},"synonym":{"exact":["combined defect in adenosylcobalamin and methylcobalamin synthesis","methylmalonic aciduria with homocystinuria"],"related":["methylmalonic acidemia and homocystinemia"]},"xrefs":{"gard":["0003579"],"medgen":["1864102"],"mesh":["C537359"],"omimps":["277400"],"orphanet":["26"],"umls":["C5848324"]}},"original_id":"orphanet:26"}