{

• "id": "http://purl.bioontology.org/ontology/OMIM/301045",
• -
  "synonym": [
  • "CDG2R",
  • "CDGIIR",
  • "CDG IIr"
  ],
• "prefLabel": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr",
• "definition": [ ],
• -
  "cui": [
  • "C5393313"
  ],
• -
  "semanticType": [
  • "http://purl.bioontology.org/ontology/STY/T047"
  ],
• "obsolete": false,
• "parents": [ ],
• "subClassOf": [ ],
• "notation": "301045",
• "label": [ ],
• "prefixIRI": null,
• "xref": null,
• "created": null,
• "modified": null,
• -
  "properties": {
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENESYMBOL": [
    • "XMRE",
    • "ATP6M8-9",
    • "ATP6AP2",
    • "CDG2R",
    • "MRXSH",
    • "XPDS"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#notation": [
    • "301045"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#altLabel": [
    • "CDG2R",
    • "CDGIIR",
    • "CDG IIr"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/SOS": [
    • "Three patients from 2 unrelated families have been reported (last curated April 2020) [MISCELLANEOUS]",
    • "Onset soon after birth or in the first months of life [MISCELLANEOUS]",
    • "Caused by mutation in the ATPase, H+ transporting, lysosomal, accessory protein 2 (ATP6AP2, 300556.0004) [MOLECULAR BASIS]"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#prefLabel": [
    • "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE": [
    • "pound"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/has_inheritance_type": [
    • "http://purl.bioontology.org/ontology/OMIM/MTHU006805"
    ],
  • -
    "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/MTHU001744",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU068133",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000068",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU068134",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000576",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU014557",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU003342",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036357",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU001684",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000616",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU068137",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002997",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036371",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU013529",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU068136",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU068132",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU061757",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU037219",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002080",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU044306",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU068135"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING": [
    • "Phenotype description, molecular basis known."
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENELOCUS": [
    • "Xp11.4"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/tui": [
    • "T047"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/cui": [
    • "C5393313"
    ]
  },
• "@id": "http://purl.bioontology.org/ontology/OMIM/301045",
• "@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%2F301045",
  • "ontology": "https://data.bioontology.org/ontologies/OMIM",
  • "children": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045/children",
  • "parents": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045/parents",
  • "descendants": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045/descendants",
  • "ancestors": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045/ancestors",
  • "instances": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045/instances",
  • "tree": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045/tree",
  • "notes": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045/notes",
  • "mappings": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045/mappings",
  • "ui": "http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301045",
  • -
    "@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"
  }

}