{
- "id": "http://purl.bioontology.org/ontology/OMIM/619362",
- "prefLabel": "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3",
-
"synonym": [],- "definition": [ ],
-
"cui": [],-
"semanticType": [],- "obsolete": false,
- "parents": [ ],
- "subClassOf": [ ],
- "notation": "619362",
- "label": [ ],
- "prefixIRI": null,
- "xref": null,
- "created": null,
- "modified": null,
-
"properties": {-
"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL": [- "1D",
- "MMIHS3",
- "LMOD1",
- "SMLMOD"
],-
"http://www.w3.org/2004/02/skos/core#notation": [],-
"http://www.w3.org/2004/02/skos/core#altLabel": [],-
"http://purl.bioontology.org/ontology/OMIM/SOS": [- "Early neonatal death [MISCELLANEOUS]",
- "Based on report of 1 patient (last curated May 2021) [MISCELLANEOUS]",
- "Caused by mutation in the leiomodin-1 gene (LMOD1, 602715.0001) [MOLECULAR BASIS]"
],-
"http://www.w3.org/2004/02/skos/core#prefLabel": [- "MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3"
],-
"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://www.w3.org/1999/02/22-rdf-syntax-ns#type": [],-
"http://purl.bioontology.org/ontology/OMIM/has_manifestation": [],-
"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": []
},- "@id": "http://purl.bioontology.org/ontology/OMIM/619362",
- "@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%2F619362",
- "ontology": "https://data.bioontology.org/ontologies/OMIM",
- "children": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362/children",
- "parents": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362/parents",
- "descendants": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362/descendants",
- "ancestors": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362/ancestors",
- "instances": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362/instances",
- "tree": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362/tree",
- "notes": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362/notes",
- "mappings": "https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362/mappings",
- "ui": "http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619362",
-
"@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"
}
}