MONDO:0010828

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0010828/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "disease of orbital region",
11        "inborn disorder of amino acid metabolism",
12        "nervous system disease",
13        "disorder of orbital region",
14        "retinitis pigmentosa 11",
15        "disease",
16        "realizable",
17        "perceptual disorders",
18        "head and neck disorder",
19        "human disease",
20        "amino acid metabolism disease",
21        "inborn errors of metabolism",
22        "disorder of visual system",
23        "experimental factor",
24        "characteristic",
25        "hereditary neurological disease",
26        "entity",
27        "PRPF31-related retinopathy",
28        "psychiatric disorder",
29        "retinitis pigmentosa",
30        "eye disorder",
31        "continuant",
32        "retinopathy",
33        "disposition",
34        "genetic disorder",
35        "inherited retinal dystrophy",
36        "retinal degeneration",
37        "metabolic disease",
38        "eye disease",
39        "inborn disorder of amino acid transport",
40        "nervous system disorder",
41        "retinal disorder",
42        "hereditary disease"
43    ],
44    "audit": {},
45    "comments": [],
46    "creation_timestamp": "2023-11-03T21:53:07.143356+00:00",
47    "definition": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene.",
48    "name": "MONDO_0010828",
49    "ontology": "MONDO",
50    "release_timestamp": "2023-11-06T21:39:06.949182+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 11",
58    "synonyms": [
59        "PRPF31 retinitis pigmentosa",
60        "retinitis pigmentosa type 11",
61        "retinitis pigmentosa 11",
62        "RP11",
63        "retinitis pigmentosa caused by mutation in PRPF31"
64    ],
65    "term_id": "MONDO:0010828",
66    "term_name": "retinitis pigmentosa 11",
67    "uuid": "f69a1c0f-d6df-4aaf-ab34-b379994af033"
68}