MONDO:0018998

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0018998/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "disease of orbital region",
11        "nervous system disease",
12        "disorder of orbital region",
13        "disease",
14        "realizable",
15        "congenital nervous system disorder",
16        "perceptual disorders",
17        "head and neck disorder",
18        "human disease",
19        "disorder of visual system",
20        "experimental factor",
21        "characteristic",
22        "hereditary neurological disease",
23        "entity",
24        "psychiatric disorder",
25        "eye disorder",
26        "continuant",
27        "retinopathy",
28        "disposition",
29        "genetic disorder",
30        "inherited retinal dystrophy",
31        "retinal degeneration",
32        "Leber congenital amaurosis",
33        "eye disease",
34        "nervous system disorder",
35        "retinal disorder",
36        "hereditary disease"
37    ],
38    "audit": {},
39    "comments": [],
40    "creation_timestamp": "2023-11-03T21:50:23.685412+00:00",
41    "definition": "Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.",
42    "name": "MONDO_0018998",
43    "ontology": "MONDO",
44    "release_timestamp": "2023-11-06T21:33:35.605597+00:00",
45    "schema_version": "5",
46    "status": "released",
47    "submitted_by": {
48        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
49        "title": "Ingrid Youngworth"
50    },
51    "summary": "Leber congenital amaurosis",
52    "synonyms": [
53        "Leber's amaurosis",
54        "Leber congenital amaurosis",
55        "LCA",
56        "amaurosis congenita of Leber",
57        "Leber's congenital amaurosis",
58        "Leber's disease"
59    ],
60    "term_id": "MONDO:0018998",
61    "term_name": "Leber congenital amaurosis",
62    "uuid": "ff8ddf4a-fe1a-4580-a01b-af318d4a81ed"
63}