{"id":"http://purl.bioontology.org/ontology/MESH/D020162","synonym":["Arginase Deficiency Diseases","Argininemia","Hyperargininemias","Deficiency, Arginase","Arginase Deficiencies","Deficiencies, Arginase","Arginase Deficiency","Arginase Deficiency Disease","Deficiency Disease, Arginase","ARG1 Deficiency","Deficiency Diseases, Arginase","Deficiencies, ARG1","Deficiency, ARG1","ARG1 Deficiencies"],"notation":"D020162","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0268548"],"prefLabel":"Hyperargininemia","definition":["A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)"],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D056806"],"parents":[{"id":"http://purl.bioontology.org/ontology/MESH/D056806","synonym":["Disorder, Urea Cycle","Inborn Urea Cycle Disorder","Urea Cycle Disorders","Disorders, Urea Cycle","Urea Cycle Disorder"],"notation":"D056806","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0154246"],"prefLabel":"Urea Cycle Disorders, Inborn","definition":["Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA."],"subClassOf":["http://purl.bioontology.org/ontology/MESH/D000592","http://purl.bioontology.org/ontology/MESH/D020739"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/MESH/D056806","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD056806","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}],"label":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["Arginase Deficiency Diseases","Argininemia","Hyperargininemias","Deficiency, Arginase","Arginase Deficiencies","Deficiencies, Arginase","Arginase Deficiency","Arginase Deficiency Disease","Deficiency Disease, Arginase","ARG1 Deficiency","Deficiency Diseases, Arginase","Deficiencies, ARG1","Deficiency, ARG1","ARG1 Deficiencies"],"http://purl.bioontology.org/ontology/MESH/PM":["2000"],"http://purl.bioontology.org/ontology/MESH/HN":["2000"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/MESH/TERMUI":["T734485","T368488","T734486","T368487","T358331","T368489"],"http://purl.bioontology.org/ontology/MESH/TH":["OMIM (2013)","NLM (2000)","NLM (2010)","GHR (2014)","ORD (2010)"],"http://purl.bioontology.org/ontology/MESH/MMR":["20130708"],"http://www.w3.org/2004/02/skos/core#notation":["D020162"],"http://purl.bioontology.org/ontology/MESH/RO":["http://purl.bioontology.org/ontology/MESH/D001119"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/MESH/QB":["http://purl.bioontology.org/ontology/MESH/Q000097","http://purl.bioontology.org/ontology/MESH/Q000178","http://purl.bioontology.org/ontology/MESH/Q000175","http://purl.bioontology.org/ontology/MESH/Q000628","http://purl.bioontology.org/ontology/MESH/Q000276","http://purl.bioontology.org/ontology/MESH/Q000134","http://purl.bioontology.org/ontology/MESH/Q000139","http://purl.bioontology.org/ontology/MESH/Q000266","http://purl.bioontology.org/ontology/MESH/Q000378","http://purl.bioontology.org/ontology/MESH/Q000517","http://purl.bioontology.org/ontology/MESH/Q000662","http://purl.bioontology.org/ontology/MESH/Q000469","http://purl.bioontology.org/ontology/MESH/Q000150","http://purl.bioontology.org/ontology/MESH/Q000821","http://purl.bioontology.org/ontology/MESH/Q000191","http://purl.bioontology.org/ontology/MESH/Q000196","http://purl.bioontology.org/ontology/MESH/Q000473","http://purl.bioontology.org/ontology/MESH/Q000145","http://purl.bioontology.org/ontology/MESH/Q000382","http://purl.bioontology.org/ontology/MESH/Q000451","http://purl.bioontology.org/ontology/MESH/Q000453","http://purl.bioontology.org/ontology/MESH/Q000534","http://purl.bioontology.org/ontology/MESH/Q000532","http://purl.bioontology.org/ontology/MESH/Q000503","http://purl.bioontology.org/ontology/MESH/Q000188","http://purl.bioontology.org/ontology/MESH/Q000235","http://purl.bioontology.org/ontology/MESH/Q000201","http://purl.bioontology.org/ontology/MESH/Q000209","http://purl.bioontology.org/ontology/MESH/Q000208","http://purl.bioontology.org/ontology/MESH/Q000601","http://purl.bioontology.org/ontology/MESH/Q000000981","http://purl.bioontology.org/ontology/MESH/Q000652","http://purl.bioontology.org/ontology/MESH/Q000523","http://purl.bioontology.org/ontology/MESH/Q000401"],"http://purl.bioontology.org/ontology/MESH/FX":["D001119"],"http://purl.bioontology.org/ontology/MESH/DX":["20000101"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0268548"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Hyperargininemia"],"http://purl.bioontology.org/ontology/MESH/DC":["1"],"http://www.w3.org/2004/02/skos/core#definition":["A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)"],"http://purl.bioontology.org/ontology/MESH/MN":["C10.228.140.163.100.937.500","C18.452.132.100.937.437","C16.320.565.100.940.500","C16.320.565.189.937.500","C18.452.648.100.940.437","C18.452.648.189.937.437"],"http://purl.bioontology.org/ontology/MESH/AQL":["BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI"],"http://purl.bioontology.org/ontology/MESH/MDA":["19991012"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/MESH/D056806"]},"@id":"http://purl.bioontology.org/ontology/MESH/D020162","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162","ontology":"https://data.bioontology.org/ontologies/MESH","children":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162/children","parents":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162/parents","descendants":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162/descendants","ancestors":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162/ancestors","instances":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162/instances","tree":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162/tree","notes":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162/notes","mappings":"https://data.bioontology.org/ontologies/MESH/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162/mappings","ui":"http://bioportal.bioontology.org/ontologies/MESH?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FMESH%2FD020162","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007fbd5ffec6e8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}