{

• "id": "http://purl.bioontology.org/ontology/OMIM/301050",
• "prefLabel": "ALPORT SYNDROME 1, X-LINKED",
• -
  "synonym": [
  • "ATS",
  • "ATS1",
  • "NEPHROPATHY AND DEAFNESS, X-LINKED"
  ],
• "definition": [ ],
• "obsolete": false,
• -
  "cui": [
  • "C1567742",
  • "C4746986"
  ],
• -
  "semanticType": [
  • "http://purl.bioontology.org/ontology/STY/T047"
  ],
• "parents": [ ],
• "subClassOf": [ ],
• "notation": "301050",
• "label": [ ],
• "prefixIRI": null,
• "xref": null,
• "created": null,
• "modified": null,
• -
  "properties": {
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENESYMBOL": [
    • "COL4A5",
    • "ATS1"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#notation": [
    • "301050"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#altLabel": [
    • "ATS",
    • "ATS1",
    • "NEPHROPATHY AND DEAFNESS, X-LINKED"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/SOS": [
    • "Caused by mutation in the collagen, type IV, alpha-5 gene (COL4A5, 303630.0001) [MOLECULAR BASIS]",
    • "Affected males show onset of hematuria in first year of life [MISCELLANEOUS]",
    • "Hearing loss occurs in late childhood [MISCELLANEOUS]",
    • "Males more severely affected than females [MISCELLANEOUS]",
    • "Estimated gene carrier frequency of 1 in 5,000 [MISCELLANEOUS]",
    • "Genetic heterogeneity [MISCELLANEOUS]",
    • "Female carriers may show intermittent hematuria [MISCELLANEOUS]",
    • "About 1 to 5% of patients who undergo renal transplantation develop anti-glomerular basement membrane nephritis [MISCELLANEOUS]",
    • "About 15% of female carriers develop renal insufficiency in the second or third decade [MISCELLANEOUS]",
    • "Progressive disorder [MISCELLANEOUS]"
    ],
  • -
    "http://www.w3.org/2004/02/skos/core#prefLabel": [
    • "ALPORT SYNDROME 1, X-LINKED"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE": [
    • "pound"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/has_inheritance_type": [
    • "http://purl.bioontology.org/ontology/OMIM/MTHU003993"
    ],
  • -
    "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/MTHU036427",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036383",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU030626",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU031642",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002179",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU030629",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU030627",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU030628",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU031645",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU031644",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU030624",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000155",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU036764",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU002068",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU031643",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU030632",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU000013",
    • "http://purl.bioontology.org/ontology/OMIM/MTHU030623"
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING": [
    • "Phenotype description, molecular basis known."
    ],
  • -
    "http://purl.bioontology.org/ontology/OMIM/GENELOCUS": [
    • "Xq22.3"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/tui": [
    • "T047"
    ],
  • -
    "http://bioportal.bioontology.org/ontologies/umls/cui": [
    • "C1567742",
    • "C4746986"
    ]
  },
• "@id": "http://purl.bioontology.org/ontology/OMIM/301050",
• "@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%2F301050",
  • "ontology": "https://data.bioontology.org/ontologies/OMIM",
  • "children": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050/children",
  • "parents": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050/parents",
  • "descendants": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050/descendants",
  • "ancestors": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050/ancestors",
  • "instances": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050/instances",
  • "tree": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050/tree",
  • "notes": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050/notes",
  • "mappings": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050/mappings",
  • "ui": "http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F301050",
  • -
    "@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"
  }

}