{"id":"http://purl.bioontology.org/ontology/CSP/1849-8920","synonym":["familial splenic anemia","glucosylceramide lipidosis","glucocerebrosidosis","glucosylceramidase deficiency","lipoid histiocytosis (kerasin type)"],"notation":"1849-8920","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C0017205"],"prefLabel":"Gaucher's disease","definition":["autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/1840-2225","http://purl.bioontology.org/ontology/CSP/4001-0049","http://purl.bioontology.org/ontology/CSP/1849-8462"],"parents":[{"id":"http://purl.bioontology.org/ontology/CSP/1840-2225","synonym":["Norrie's disease","Laurence Moon Biedl syndrome","Sjogren Larsson syndrome"],"notation":"1840-2225","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T048","http://purl.bioontology.org/ontology/STY/T019"],"cui":["C0025362","C0023138","C0266526","C0037231"],"prefLabel":"mental retardation","definition":["subnormal intellectual functioning which originates during the developmental period; multiple potential etiologies, including genetic defects and perinatal insults; intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded; IQ scores between 70 and 79 are in the borderline mentally retarded range and scores below 67 are in the retarded range."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/2483-6609"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/1840-2225","@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%2F1840-2225","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1840-2225","@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":[]}},{"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"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@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","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":[]}},{"id":"http://purl.bioontology.org/ontology/CSP/1849-8462","synonym":["glycosphingolipidoses","cerebral lipoidosis"],"notation":"1849-8462","semanticType":["http://purl.bioontology.org/ontology/STY/T047","http://purl.bioontology.org/ontology/STY/T046"],"cui":["C0599458","C0599457","C0037899"],"prefLabel":"sphingolipidosis","definition":["lysosomal storage diseases characterized by abnormal storage of spingolipids."],"subClassOf":["http://purl.bioontology.org/ontology/CSP/1849-5707","http://purl.bioontology.org/ontology/CSP/1849-5878"],"label":[],"prefLabelXl":[],"altLabelXl":[],"hiddenLabelXl":[],"obsolete":false,"prefixIRI":null,"xref":null,"inScheme":[],"created":null,"modified":null,"@id":"http://purl.bioontology.org/ontology/CSP/1849-8462","@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%2F1849-8462","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8462","@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://purl.bioontology.org/ontology/CSP/RO":["http://purl.bioontology.org/ontology/CSP/0549-1012","http://purl.bioontology.org/ontology/CSP/1254-7856"],"http://www.w3.org/2004/02/skos/core#altLabel":["familial splenic anemia","glucosylceramide lipidosis","glucocerebrosidosis","glucosylceramidase deficiency","lipoid histiocytosis (kerasin type)"],"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://www.w3.org/2004/02/skos/core#notation":["1849-8920"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/CSP/DID":["1849-8920"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C0017205"],"http://www.w3.org/2004/02/skos/core#prefLabel":["Gaucher's disease"],"http://www.w3.org/2004/02/skos/core#definition":["autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons."],"http://purl.bioontology.org/ontology/CSP/RN":["http://purl.bioontology.org/ontology/CSP/1840-2225","http://purl.bioontology.org/ontology/CSP/4001-0049","http://purl.bioontology.org/ontology/CSP/1849-8462"],"http://www.w3.org/2000/01/rdf-schema#subClassOf":["http://purl.bioontology.org/ontology/CSP/1840-2225","http://purl.bioontology.org/ontology/CSP/4001-0049","http://purl.bioontology.org/ontology/CSP/1849-8462"]},"@id":"http://purl.bioontology.org/ontology/CSP/1849-8920","@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%2F1849-8920","ontology":"https://data.bioontology.org/ontologies/CRISP","children":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920/children","parents":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920/parents","descendants":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920/descendants","ancestors":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920/ancestors","instances":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920/instances","tree":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920/tree","notes":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920/notes","mappings":"https://data.bioontology.org/ontologies/CRISP/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920/mappings","ui":"http://bioportal.bioontology.org/ontologies/CRISP?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FCSP%2F1849-8920","@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:0x00007f68514d53f8 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-daf04082c829/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":[]}}