{

• "id": "http://purl.bioontology.org/ontology/OMIM/601457",
• "prefLabel": "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE",
• "obsolete": false,
• "subClassOf": [ ],
• -
  "synonym": [
  • "SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE"
  ],
• "definition": [ ],
• "parents": [ ],
• -
  "cui": [
  • "C1832322"
  ],
• -
  "semanticType": [
  • "http://purl.bioontology.org/ontology/STY/T047"
  ],
• "label": [ ],
• "notation": "601457",
• "prefixIRI": null,
• "xref": null,
• "created": null,
• "modified": null,
• -
  "properties": {
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENESYMBOL": [
    • "RAG2"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#notation": [
    • "601457"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#altLabel": [
    • "SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/SOS": [
    • "Caused by mutations in the recombinase activating gene 1 (RAG1, {179615.0001)} [MOLECULAR BASIS]",
    • "Caused by mutations in the recombinase activating gene 2 (RAG2, 179616.0001) [MOLECULAR BASIS]",
    • "Presents at 2 to 3 months of age [MISCELLANEOUS]",
    • "Death within several months if untreated [MISCELLANEOUS]"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#prefLabel": [
    • "SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE": [
    • "pound"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/has_inheritance_type": [
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000016"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/hasSTY": [
    • "http://purl.bioontology.org/ontology/STY/T047"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPE": [
    • "3"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MOVED_FROM": [
    • "202500"
    ],
  • -
    "http://www.w3.org/1999/02/22-rdf-syntax-ns#type": [
    • "http://www.w3.org/2002/07/owl#Class"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/has_manifestation": [
    • "http://purl.bioontology.org/ontology/OMIM/MTHU005994",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU005998",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU006002",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU005995",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU006003",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU005996",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036374",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU005997",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU006001",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU005999",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000226",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU005462",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001688",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU005468",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU006000"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING": [
    • "Phenotype description, molecular basis known."
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENELOCUS": [
    • "11p13"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/tui": [
    • "T047"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/cui": [
    • "C1832322"
    ]
  },
• "@id": "http://purl.bioontology.org/ontology/OMIM/601457",
• "@type": "http://www.w3.org/2002/07/owl#Class",
• -
  "links": {
  • "self": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457",
  • "ontology": "https://data.bioontology.org/ontologies/OMIM",
  • "children": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457/children",
  • "parents": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457/parents",
  • "descendants": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457/descendants",
  • "ancestors": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457/ancestors",
  • "instances": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457/instances",
  • "tree": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457/tree",
  • "notes": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457/notes",
  • "mappings": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457/mappings",
  • "ui": "http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F601457",
  • -
    "@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",
  • "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#parents",
  • "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",
  • "created": "http://purl.org/dc/terms/created",
  • "modified": "http://purl.org/dc/terms/modified",
  • "@language": "en"
  }

}