{
- "id": "http://purl.bioontology.org/ontology/OMIM/244400",
- "prefLabel": "CILIARY DYSKINESIA, PRIMARY, 1",
- "subClassOf": [ ],
- "obsolete": false,
- "definition": [ ],
-
"synonym": [- "SIEWERT SYNDROME",
- "ICS",
- "CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS",
- "CILD1",
- "IMMOTILE CILIA SYNDROME",
- "KARTAGENER SYNDROME",
- "PCD",
- "DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS",
- "POLYNESIAN BRONCHIECTASIS"
],- "parents": [ ],
-
"cui": [- "C0022521",
- "C4551906",
- "C4317124",
- "C4551720"
],-
"semanticType": [],- "notation": "244400",
- "label": [ ],
- "prefixIRI": null,
- "xref": null,
- "created": null,
- "modified": null,
-
"properties": {-
"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL": [- "PCD",
- "DNAI1",
- "ICS",
- "CILD1"
],-
"http://www.w3.org/2004/02/skos/core#notation": [],-
"http://www.w3.org/2004/02/skos/core#altLabel": [- "SIEWERT SYNDROME",
- "ICS",
- "CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS",
- "CILD1",
- "IMMOTILE CILIA SYNDROME",
- "KARTAGENER SYNDROME",
- "PCD",
- "DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS",
- "POLYNESIAN BRONCHIECTASIS"
],-
"http://purl.bioontology.org/ontology/OMIM/SOS": [- "Approximately 50% of patients have situs inversus [MISCELLANEOUS]",
- "Caused by mutation in the dynein, axonemal, intermediate chain 1 gene (DNAI1, 604366.0001). [MOLECULAR BASIS]",
- "Genetic heterogeneity [MISCELLANEOUS]"
],-
"http://www.w3.org/2004/02/skos/core#prefLabel": [- "CILIARY DYSKINESIA, PRIMARY, 1"
],-
"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE": [],-
"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type": [],-
"http://bioportal.bioontology.org/ontologies/umls/hasSTY": [],-
"http://purl.bioontology.org/ontology/OMIM/MIMTYPE": [],-
"http://purl.bioontology.org/ontology/OMIM/MOVED_FROM": [],-
"http://www.w3.org/1999/02/22-rdf-syntax-ns#type": [],-
"http://purl.bioontology.org/ontology/OMIM/has_manifestation": [- "http://purl.bioontology.org/ontology/OMIM/MTHU001812",
- "http://purl.bioontology.org/ontology/OMIM/MTHU037105",
- "http://purl.bioontology.org/ontology/OMIM/MTHU006969",
- "http://purl.bioontology.org/ontology/OMIM/MTHU012034",
- "http://purl.bioontology.org/ontology/OMIM/MTHU012041",
- "http://purl.bioontology.org/ontology/OMIM/MTHU012042",
- "http://purl.bioontology.org/ontology/OMIM/MTHU012035",
- "http://purl.bioontology.org/ontology/OMIM/MTHU012040",
- "http://purl.bioontology.org/ontology/OMIM/MTHU001474",
- "http://purl.bioontology.org/ontology/OMIM/MTHU002638",
- "http://purl.bioontology.org/ontology/OMIM/MTHU037622",
- "http://purl.bioontology.org/ontology/OMIM/MTHU037624",
- "http://purl.bioontology.org/ontology/OMIM/MTHU004672",
- "http://purl.bioontology.org/ontology/OMIM/MTHU036635",
- "http://purl.bioontology.org/ontology/OMIM/MTHU011729",
- "http://purl.bioontology.org/ontology/OMIM/MTHU037623",
- "http://purl.bioontology.org/ontology/OMIM/MTHU036923",
- "http://purl.bioontology.org/ontology/OMIM/MTHU012038",
- "http://purl.bioontology.org/ontology/OMIM/MTHU037263",
- "http://purl.bioontology.org/ontology/OMIM/MTHU012037"
],-
"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING": [- "Phenotype description, molecular basis known."
],-
"http://purl.bioontology.org/ontology/OMIM/GENELOCUS": [],-
"http://bioportal.bioontology.org/ontologies/umls/tui": [],-
"http://bioportal.bioontology.org/ontologies/umls/cui": [- "C0022521",
- "C4551906",
- "C4317124",
- "C4551720"
]
},- "@id": "http://purl.bioontology.org/ontology/OMIM/244400",
- "@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%2F244400",
- "ontology": "https://data.bioontology.org/ontologies/OMIM",
- "children": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400/children",
- "parents": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400/parents",
- "descendants": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400/descendants",
- "ancestors": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400/ancestors",
- "instances": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400/instances",
- "tree": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400/tree",
- "notes": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400/notes",
- "mappings": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400/mappings",
- "ui": "http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F244400",
-
"@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"
}
}