MONDO:0012056

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0012056/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "eye disorder",
11        "characteristic",
12        "disorder of orbital region",
13        "retinopathy",
14        "genetic disorder",
15        "psychiatric disorder",
16        "disease",
17        "entity",
18        "continuant",
19        "perceptual disorders",
20        "head and neck disorder",
21        "realizable",
22        "hereditary disease",
23        "disposition",
24        "inherited retinal dystrophy",
25        "congenital nervous system disorder",
26        "experimental factor",
27        "eye disease",
28        "human disease",
29        "disease of orbital region",
30        "Leber congenital amaurosis",
31        "hereditary neurological disease",
32        "disorder of visual system",
33        "nervous system disease",
34        "nervous system disorder",
35        "NMNAT1-related retinopathy",
36        "Leber congenital amaurosis 9",
37        "retinal degeneration",
38        "retinal disorder"
39    ],
40    "audit": {},
41    "creation_timestamp": "2023-11-03T21:59:23.883549+00:00",
42    "name": "MONDO_0012056",
43    "ontology": "MONDO",
44    "release_timestamp": "2023-11-06T21:12:47.967067+00:00",
45    "schema_version": "4",
46    "status": "released",
47    "submitted_by": {
48        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
49        "title": "Ingrid Youngworth"
50    },
51    "summary": "Leber congenital amaurosis 9",
52    "synonyms": [
53        "LCA9",
54        "NMNAT1 Leber congenital amaurosis",
55        "Leber congenital amaurosis caused by mutation in NMNAT1",
56        "Leber congenital amaurosis type 9",
57        "Leber congenital amaurosis 9"
58    ],
59    "term_id": "MONDO:0012056",
60    "term_name": "Leber congenital amaurosis 9",
61    "uuid": "f24a3484-6937-492f-aa47-cd6dc81a73f6"
62}