MONDO:0011628

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0011628/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "characteristic",
11        "genetic disorder",
12        "experimental factor",
13        "entity",
14        "classic organic aciduria",
15        "amino acid metabolism disease",
16        "inborn disorder of amino acid metabolism",
17        "disease",
18        "metabolic disease",
19        "continuant",
20        "hereditary disease",
21        "realizable",
22        "human disease",
23        "inborn organic aciduria",
24        "propionic acidemia",
25        "inborn errors of metabolism",
26        "disposition"
27    ],
28    "audit": {},
29    "comments": [],
30    "creation_timestamp": "2023-11-03T21:51:07.189886+00:00",
31    "definition": "Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.",
32    "name": "MONDO_0011628",
33    "ontology": "MONDO",
34    "release_timestamp": "2023-11-06T21:35:04.308694+00:00",
35    "schema_version": "5",
36    "status": "released",
37    "submitted_by": {
38        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
39        "title": "Ingrid Youngworth"
40    },
41    "summary": "propionic acidemia",
42    "synonyms": [
43        "ketotic glycinemia",
44        "GLYCINEMIA, ketotic",
45        "ketotic II glycinemia",
46        "ketotic hyperglycinemia",
47        "propionic aciduria",
48        "propionyl-CoA carboxylase deficiency",
49        "propionic acidemia"
50    ],
51    "term_id": "MONDO:0011628",
52    "term_name": "propionic acidemia",
53    "uuid": "ed367f88-b7bf-4099-b4bc-b472fec327c7"
54}