MONDO:0010723

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0010723/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "entity",
11        "genetic disorder",
12        "retinopathy",
13        "psychiatric disorder",
14        "amino acid metabolism disease",
15        "retinitis pigmentosa 2",
16        "RP2-related retinopathy",
17        "hereditary neurological disease",
18        "hereditary disease",
19        "head and neck disorder",
20        "continuant",
21        "disorder of orbital region",
22        "retinitis pigmentosa",
23        "realizable",
24        "disease",
25        "inborn errors of metabolism",
26        "retinal degeneration",
27        "nervous system disorder",
28        "metabolic disease",
29        "characteristic",
30        "retinal disorder",
31        "disorder of visual system",
32        "experimental factor",
33        "eye disease",
34        "inborn disorder of amino acid metabolism",
35        "inborn disorder of amino acid transport",
36        "perceptual disorders",
37        "nervous system disease",
38        "disposition",
39        "human disease",
40        "disease of orbital region",
41        "inherited retinal dystrophy",
42        "eye disorder"
43    ],
44    "audit": {},
45    "comments": [],
46    "creation_timestamp": "2023-11-03T21:51:43.635236+00:00",
47    "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.",
48    "name": "MONDO_0010723",
49    "ontology": "MONDO",
50    "release_timestamp": "2023-11-06T21:36:20.336020+00:00",
51    "schema_version": "5",
52    "status": "released",
53    "submitted_by": {
54        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
55        "title": "Ingrid Youngworth"
56    },
57    "summary": "retinitis pigmentosa 2",
58    "synonyms": [
59        "retinitis pigmentosa 2",
60        "retinitis pigmentosa type 2",
61        "RP2 retinitis pigmentosa",
62        "retinitis pigmentosa caused by mutation in RP2",
63        "RP2"
64    ],
65    "term_id": "MONDO:0010723",
66    "term_name": "retinitis pigmentosa 2",
67    "uuid": "e9454d0a-434e-4800-a91b-4291f2d3fec7"
68}