{"id":"http://purl.bioontology.org/ontology/CSP/4001-0049","synonym":["mucopolysaccharidosis type VII","cystathioninuria","homoserine deaminase deficiency","cystathionase deficiency","N acetyl glutamate synthethase deficiency"],"notation":"4001-0049","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T046"],"cui":["C0149676","C0268616","C0220993","C0085132","C0598385","C3495552"],"prefLabel":"enzyme deficiency","definition":["abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/0944-4756"],"parents":[{"id":"http://purl.bioontology.org/ontology/CSP/0944-4756","synonym":["insect disease"],"notation":"0944-4756","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0598303","C0012634"],"prefLabel":"disease/disorder","definition":["top term heading for all specific disorders and diseases; a disease is a deviation from or interruption of the normal structure or function of any part, organ or system (or combination thereof) of the body that is manifested by a characteristic set of symptoms and signs; a disorder is a derangement or abnormality of function."],"subClassOf":["http://www.w3.org/2002/07/owl#Thing"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/0944-4756","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F0944-4756","@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":[],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["mucopolysaccharidosis type VII","cystathioninuria","homoserine deaminase deficiency","cystathionase deficiency","N acetyl glutamate synthethase deficiency"],"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":["T046","T047"],"http://purl.bioontology.org/ontology/CSP/RB":["http://purl.bioontology.org/ontology/CSP/1849-5422","http://purl.bioontology.org/ontology/CSP/1849-8747","http://purl.bioontology.org/ontology/CSP/1849-8130","http://purl.bioontology.org/ontology/CSP/1849-9178","http://purl.bioontology.org/ontology/CSP/1849-9435","http://purl.bioontology.org/ontology/CSP/1849-4577","http://purl.bioontology.org/ontology/CSP/1849-9378","http://purl.bioontology.org/ontology/CSP/1849-9548","http://purl.bioontology.org/ontology/CSP/1849-6334","http://purl.bioontology.org/ontology/CSP/1849-9492","http://purl.bioontology.org/ontology/CSP/1849-7346","http://purl.bioontology.org/ontology/CSP/1849-0835","http://purl.bioontology.org/ontology/CSP/1849-0949","http://purl.bioontology.org/ontology/CSP/1849-8113","http://purl.bioontology.org/ontology/CSP/1849-0721","http://purl.bioontology.org/ontology/CSP/1849-6512","http://purl.bioontology.org/ontology/CSP/1849-8690","http://purl.bioontology.org/ontology/CSP/1849-3494","http://purl.bioontology.org/ontology/CSP/1849-5593","http://purl.bioontology.org/ontology/CSP/1849-9151","http://purl.bioontology.org/ontology/CSP/1849-1120","http://purl.bioontology.org/ontology/CSP/1849-8519","http://purl.bioontology.org/ontology/CSP/1849-8920","http://purl.bioontology.org/ontology/CSP/1849-9034","http://purl.bioontology.org/ontology/CSP/4000-0193","http://purl.bioontology.org/ontology/CSP/1849-3722","http://purl.bioontology.org/ontology/CSP/1849-5536","http://purl.bioontology.org/ontology/CSP/1849-9719","http://purl.bioontology.org/ontology/CSP/1849-9662","http://purl.bioontology.org/ontology/CSP/1849-3608","http://purl.bioontology.org/ontology/CSP/1849-6504","http://purl.bioontology.org/ontology/CSP/1849-1576","http://purl.bioontology.org/ontology/CSP/1849-8105","http://purl.bioontology.org/ontology/CSP/1849-8633"],"http://www.w3.org/2004/02/skos/core#notation":["4001-0049"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T046"],"http://purl.bioontology.org/ontology/CSP/DID":["4001-0049"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0149676","C0268616","C0220993","C0085132","C0598385","C3495552"],"http://www.w3.org/2004/02/skos/core#prefLabel":["enzyme deficiency"],"http://www.w3.org/2004/02/skos/core#definition":["abnormal and/or pathologic state usually due to mutations in structural genes for enzyme polypeptides, manifesting as metabolic abnormalities."],"http://purl.bioontology.org/ontology/CSP/RN":["http://purl.bioontology.org/ontology/CSP/0944-4756"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/CSP/0944-4756"]},"@id":"http://purl.bioontology.org/ontology/CSP/4001-0049","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F4001-0049","@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##","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":[]}}