MONDO:0018307

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0018307/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "hereditary neurological disease",
11        "iron metabolism disease",
12        "central nervous system disorder",
13        "genetic disorder",
14        "mental or behavioural disorder",
15        "nervous system disorder",
16        "inherited neurodegenerative disorder",
17        "metabolic disease",
18        "continuant",
19        "neuroaxonal dystrophy",
20        "mineral metabolism disease",
21        "experimental factor",
22        "movement disorder",
23        "neurodegeneration with brain iron accumulation",
24        "hereditary disease",
25        "human disease",
26        "characteristic",
27        "inborn errors of metabolism",
28        "nervous system disease",
29        "disposition",
30        "disease",
31        "central nervous system disease",
32        "dementia",
33        "neurodegenerative disease",
34        "realizable",
35        "cognitive disorder",
36        "psychiatric disorder",
37        "entity",
38        "brain disease",
39        "hereditary dementia"
40    ],
41    "audit": {},
42    "comments": [],
43    "creation_timestamp": "2023-11-03T21:53:44.478073+00:00",
44    "definition": "Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.",
45    "name": "MONDO_0018307",
46    "ontology": "MONDO",
47    "release_timestamp": "2023-11-06T21:40:16.366165+00:00",
48    "schema_version": "5",
49    "status": "released",
50    "submitted_by": {
51        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
52        "title": "Ingrid Youngworth"
53    },
54    "summary": "neurodegeneration with brain iron accumulation",
55    "synonyms": [
56        "neurodegeneration with brain iron accumulation",
57        "NBIA"
58    ],
59    "term_id": "MONDO:0018307",
60    "term_name": "neurodegeneration with brain iron accumulation",
61    "uuid": "ea745b2b-ef4b-416d-836b-65b1ac3aff10"
62}