Amino Acid Metabolism, Inborn Errors

Disease ID: disease_node_1143

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Dbxref	GARD:5793, ICD10CM:E72.9, ICD9CM:270, MESH:D000592, NCI:C97090, SNOMEDCT_US_2023_03_01:42930003, UMLS_CUI:C0002514
Subclassof	DOID_655
Data Source	DOID, MESH
Synonyms	inborn errors of amino acid metabolism
Mesh Id	D000592
Mesh Label	Amino Acid Metabolism, Inborn Errors
Mesh Subclassof	D008661
Doid Label	amino acid metabolic disorder
Doid Description	An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
Disease Node Id	disease_node_1143
Doid Id	DOID_9252
Label	Amino Acid Metabolism, Inborn Errors

Incoming r'ship SUBCLASS_OF to/from Tyrosinemia(ID:disease_node_13245) (Disease)
Incoming r'ship SUBCLASS_OF to/from Tetrahydrobiopterin (Bh4)-Deficient Hyperphenylalaninemia(ID:disease_node_20525) (Disease)
Incoming r'ship SUBCLASS_OF to/from Urea Cycle Disorders, Inborn(ID:disease_node_12308) (Disease)
Incoming r'ship SUBCLASS_OF to/from Serine Deficiency(ID:disease_node_20545) (Disease)
Incoming r'ship SUBCLASS_OF to/from Phenylketonuria, Maternal(ID:disease_node_9003) (Disease)
Incoming r'ship SUBCLASS_OF to/from Prolidase Deficiency(ID:disease_node_12268) (Disease)
Incoming r'ship SUBCLASS_OF to/from Phenylketonurias(ID:disease_node_6053) (Disease)
Incoming r'ship SUBCLASS_OF to/from Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly(ID:disease_node_16442) (Disease)
Incoming r'ship SUBCLASS_OF to/from Oxoglutarate Dehydrogenase Deficiency(ID:disease_node_20524) (Disease)
Incoming r'ship SUBCLASS_OF to/from Multiple Carboxylase Deficiency(ID:disease_node_5280) (Disease)
Incoming r'ship SUBCLASS_OF to/from Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities(ID:disease_node_16833) (Disease)
Incoming r'ship SUBCLASS_OF to/from Ornithine Translocase Deficiency(ID:disease_node_20550) (Disease)
Incoming r'ship SUBCLASS_OF to/from Organic Acidemia(ID:disease_node_19193) (Disease)
Incoming r'ship SUBCLASS_OF to/from Leucine-Sensitive Hypoglycemia Of Infancy(ID:disease_node_16860) (Disease)
Incoming r'ship SUBCLASS_OF to/from Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency(ID:disease_node_16834) (Disease)
Incoming r'ship SUBCLASS_OF to/from Homocystinuria(ID:disease_node_4020) (Disease)
Incoming r'ship SUBCLASS_OF to/from Homocystinuria-Megaloblastic Anemia Cblg Type(ID:disease_node_20519) (Disease)
Incoming r'ship SUBCLASS_OF to/from Hyperlysinemias(ID:disease_node_10158) (Disease)
Incoming r'ship SUBCLASS_OF to/from Hyperglycinemia, Nonketotic(ID:disease_node_10126) (Disease)
Incoming r'ship SUBCLASS_OF to/from Hyperprolinemia(ID:disease_node_20529) (Disease)
Incoming r'ship SUBCLASS_OF to/from Hmg-Coa Synthase 2 Deficiency(ID:disease_node_20538) (Disease)
Incoming r'ship SUBCLASS_OF to/from Homocystinuria-Megaloblastic Anemia Cble Type(ID:disease_node_20520) (Disease)
Incoming r'ship SUBCLASS_OF to/from Hyperhomocysteinemia(ID:disease_node_10071) (Disease)
Incoming r'ship SUBCLASS_OF to/from Hypervalinemia And Hyperleucine-Isoleucinemia(ID:disease_node_20536) (Disease)
Incoming r'ship SUBCLASS_OF to/from Histidine Metabolism Disease(ID:disease_node_20518) (Disease)
Incoming r'ship SUBCLASS_OF to/from Gamma-Amino Butyric Acid Metabolism Disorder(ID:disease_node_20539) (Disease)
Incoming r'ship SUBCLASS_OF to/from Hartnup Disease(ID:disease_node_3669) (Disease)
Incoming r'ship SUBCLASS_OF to/from Diphthamide Deficiency Syndrome(ID:disease_node_20531) (Disease)
Incoming r'ship SUBCLASS_OF to/from Dimethylglycine Dehydrogenase Deficiency(ID:disease_node_20523) (Disease)
Incoming r'ship SUBCLASS_OF to/from Cystinuria(ID:disease_node_2360) (Disease)
Incoming r'ship SUBCLASS_OF to/from Developmental And Epileptic Encephalopathy 116(ID:disease_node_16242) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Glutamine Deficiency(ID:disease_node_20535) (Disease)
Incoming r'ship SUBCLASS_OF to/from Cerebral Creatine Deficiency Syndrome(ID:disease_node_20541) (Disease)
Incoming r'ship SUBCLASS_OF to/from Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency(ID:disease_node_20522) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Metabolism, Inborn Errors(ID:disease_node_5171) (Disease)
Incoming r'ship SUBCLASS_OF to/from Adenylosuccinase Lyase Deficiency(ID:disease_node_20544) (Disease)
Incoming r'ship SUBCLASS_OF to/from 2-Aminoadipic 2-Oxoadipic Aciduria(ID:disease_node_20521) (Disease)
Incoming r'ship SUBCLASS_OF to/from Argininosuccinic Aciduria(ID:disease_node_12314) (Disease)
Incoming r'ship SUBCLASS_OF to/from 3-Hydroxyisobutryl-Coa Hydrolase Deficiency(ID:disease_node_20537) (Disease)
Incoming r'ship SUBCLASS_OF to/from Alkaptonuria(ID:disease_node_1119) (Disease)
Incoming r'ship SUBCLASS_OF to/from 3-Methylcrotonyl-Coa Carboxylase Deficiency(ID:disease_node_18811) (Disease)

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Amino Acid Metabolism, Inborn Errors

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Disease Properties

Associated Connections 41

Disease Connections 41