{

• "id": "http://purl.bioontology.org/ontology/OMIM/251290",
• "prefLabel": "PSEUDO-TORCH SYNDROME 1",
• "definition": [ ],
• -
  "synonym": [
  • "BLCPMG",
  • "PSEUDO-TORCH SYNDROME",
  • "PTORCH1",
  • "BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA"
  ],
• "obsolete": false,
• "label": [ ],
• "prefixIRI": null,
• "subClassOf": [ ],
• "parents": [ ],
• "notation": "251290",
• -
  "semanticType": [
  • "http://purl.bioontology.org/ontology/STY/T047"
  ],
• -
  "cui": [
  • "C3489725",
  • "C4552078"
  ],
• "xref": null,
• "created": null,
• "modified": null,
• -
  "properties": {
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENESYMBOL": [
    • "PTORCH1",
    • "OCLN",
    • "BLCPMG"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#notation": [
    • "251290"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#altLabel": [
    • "BLCPMG",
    • "PSEUDO-TORCH SYNDROME",
    • "PTORCH1",
    • "BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/SOS": [
    • "Early death may occur [MISCELLANEOUS]",
    • "Resembles intrauterine TORCH infection but without intrauterine infection [MISCELLANEOUS]",
    • "Caused by mutation in the occludin gene (OCLN, 602876.0001) [MOLECULAR BASIS]"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#prefLabel": [
    • "PSEUDO-TORCH SYNDROME 1"
    ],
  • -
    "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": [
    • "600158"
    ],
  • -
    "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/MTHU067739",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000269",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001744",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001605",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000300",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU037613",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036336",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU009985",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU010506",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU042045",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000212",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001601",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU024399",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU009220",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000512",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036357",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU042041",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036919",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU026045",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU026041",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001896",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU010474",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000265",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU007070",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000575",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000090",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU042040",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000155",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002997",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU026042",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022503",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036371",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU039330",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU013529",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000081",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001613",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000235"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING": [
    • "Phenotype description, molecular basis known."
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENELOCUS": [
    • "5q13.1"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/tui": [
    • "T047"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/cui": [
    • "C3489725",
    • "C4552078"
    ]
  },
• "@id": "http://purl.bioontology.org/ontology/OMIM/251290",
• "@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%2F251290",
  • "ontology": "https://data.bioontology.org/ontologies/OMIM",
  • "children": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290/children",
  • "parents": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290/parents",
  • "descendants": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290/descendants",
  • "ancestors": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290/ancestors",
  • "instances": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290/instances",
  • "tree": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290/tree",
  • "notes": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290/notes",
  • "mappings": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290/mappings",
  • "ui": "http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F251290",
  • -
    "@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"
  }

}