MONDO:0016575

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0016575/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "realizable",
11        "characteristic",
12        "disposition",
13        "hereditary disease",
14        "entity",
15        "disease",
16        "ciliopathy",
17        "primary ciliary dyskinesia",
18        "human disease",
19        "genetic disorder",
20        "continuant",
21        "experimental factor",
22        "respiratory system disease",
23        "syndromic disease",
24        "respiratory system disorder"
25    ],
26    "audit": {},
27    "comments": [],
28    "creation_timestamp": "2023-11-03T21:53:04.808332+00:00",
29    "definition": "A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).",
30    "name": "MONDO_0016575",
31    "ontology": "MONDO",
32    "release_timestamp": "2023-11-06T21:39:02.974459+00:00",
33    "schema_version": "5",
34    "status": "released",
35    "submitted_by": {
36        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
37        "title": "Ingrid Youngworth"
38    },
39    "summary": "primary ciliary dyskinesia",
40    "synonyms": [
41        "PCD",
42        "ciliary motility disorder",
43        "Kartagener's syndrome",
44        "Kartagener syndrome",
45        "immotile ciliary syndrome"
46    ],
47    "term_id": "MONDO:0016575",
48    "term_name": "primary ciliary dyskinesia",
49    "uuid": "f2d3234b-0731-40d8-a9d7-6f6c76823298"
50}