{

• "id": "http://purl.bioontology.org/ontology/OMIM/608156",
• "prefLabel": "NABLUS MASK-LIKE FACIAL SYNDROME",
• "definition": [ ],
• -
  "synonym": [
  • "CHROMOSOME 8q22.1 DELETION SYNDROME",
  • "NMLFS"
  ],
• "obsolete": false,
• "subClassOf": [ ],
• "parents": [ ],
• "label": [ ],
• "prefixIRI": null,
• -
  "cui": [
  • "C1842464"
  ],
• -
  "semanticType": [
  • "http://purl.bioontology.org/ontology/STY/T047"
  ],
• "notation": "608156",
• "xref": null,
• "created": null,
• "modified": null,
• -
  "properties": {
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENESYMBOL": [
    • "DEL8q22.1",
    • "C8DELq22.1",
    • "NMLFS"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#notation": [
    • "608156"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#altLabel": [
    • "CHROMOSOME 8q22.1 DELETION SYNDROME",
    • "NMLFS"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/SOS": [
    • "Contiguous gene syndrome caused by deletion of 3.2Mb deletion on 8q22.1 [MOLECULAR BASIS]"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#prefLabel": [
    • "NABLUS MASK-LIKE FACIAL SYNDROME"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE": [
    • "pound"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/has_inheritance_type": [
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000018"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/hasSTY": [
    • "http://purl.bioontology.org/ontology/STY/T047"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPE": [
    • "3"
    ],
  • -
    "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/MTHU004401",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000231",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022148",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022137",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022142",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022143",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000263",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU004212",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU014897",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002047",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU009409",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002205",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002392",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU007664",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022147",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000185",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU003911",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000583",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000514",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU007254",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000512",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036357",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022144",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001683",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU014887",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000560",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001172",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU010485",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022145",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036361",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022135",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU007260",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022140",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002016",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022139",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU007202",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU004153",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU004163",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002945",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022136",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002944",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000074",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU012450",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000680",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022138",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000066",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000189",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022141",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU022146",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036356"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING": [
    • "Phenotype description, molecular basis known."
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENELOCUS": [
    • "8q22.1"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/tui": [
    • "T047"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/cui": [
    • "C1842464"
    ]
  },
• "@id": "http://purl.bioontology.org/ontology/OMIM/608156",
• "@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%2F608156",
  • "ontology": "https://data.bioontology.org/ontologies/OMIM",
  • "children": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156/children",
  • "parents": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156/parents",
  • "descendants": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156/descendants",
  • "ancestors": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156/ancestors",
  • "instances": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156/instances",
  • "tree": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156/tree",
  • "notes": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156/notes",
  • "mappings": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156/mappings",
  • "ui": "http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F608156",
  • -
    "@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"
  }

}