MONDO:0014192

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0014192/",
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        "primary ciliary dyskinesia 22",
22        "experimental factor",
23        "respiratory system disease",
24        "syndromic disease",
25        "respiratory system disorder"
26    ],
27    "audit": {},
28    "comments": [],
29    "creation_timestamp": "2023-11-03T21:53:26.375648+00:00",
30    "definition": "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.",
31    "name": "MONDO_0014192",
32    "ontology": "MONDO",
33    "release_timestamp": "2023-11-06T21:39:47.020897+00:00",
34    "schema_version": "5",
35    "status": "released",
36    "submitted_by": {
37        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
38        "title": "Ingrid Youngworth"
39    },
40    "summary": "primary ciliary dyskinesia 22",
41    "synonyms": [
42        "primary ciliary dyskinesia caused by mutation in ZMYND10",
43        "CILD22",
44        "primary ciliary dyskinesia type 22",
45        "ciliary dyskinesia, primary, type 22",
46        "ZMYND10 primary ciliary dyskinesia",
47        "primary ciliary dyskinesia 22 with or without situs inversus"
48    ],
49    "term_id": "MONDO:0014192",
50    "term_name": "primary ciliary dyskinesia 22",
51    "uuid": "e911c755-bf87-43b0-9c4c-b133a83fffdf"
52}