MONDO:0008564

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0008564/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "hereditary neurological disease",
11        "heart disorder",
12        "cardiovascular disease",
13        "cardiogenetic disease",
14        "cardiovascular disorder",
15        "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
16        "genetic disorder",
17        "neurocristopathy",
18        "nervous system disorder",
19        "T-cell immunodeficiency",
20        "congenital T-cell immunodeficiency",
21        "continuant",
22        "immune system disease",
23        "22q11.2 deletion syndrome",
24        "DiGeorge syndrome",
25        "experimental factor",
26        "developmental defect during embryogenesis",
27        "chromosome 22q deletion",
28        "immune system disorder",
29        "hereditary disease",
30        "human disease",
31        "syndrome caused by partial chromosomal deletion",
32        "characteristic",
33        "nervous system disease",
34        "disposition",
35        "immunodeficiency disease",
36        "multiple congenital anomalies/dysmorphic syndrome",
37        "disorder of development or morphogenesis",
38        "disease",
39        "heart disease",
40        "chromosomal disorder",
41        "realizable",
42        "entity",
43        "congenital nervous system disorder"
44    ],
45    "audit": {},
46    "comments": [],
47    "creation_timestamp": "2023-03-10T01:05:45.657458+00:00",
48    "definition": "A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.",
49    "name": "MONDO_0008564",
50    "ontology": "MONDO",
51    "release_timestamp": "2023-06-20T18:46:04.521995+00:00",
52    "schema_version": "5",
53    "status": "released",
54    "submitted_by": {
55        "@id": "/users/43f2f757-5cbf-490a-9787-a1ee85a4cdcd/",
56        "title": "Jennifer Jou"
57    },
58    "summary": "DiGeorge syndrome",
59    "synonyms": [
60        "22q deletion syndrome(s)",
61        "DiGeorge syndrome",
62        "Di-George syndrome",
63        "DGS",
64        "DiGeorge anomaly",
65        "DiGeorge's syndrome",
66        "pharyngeal pouch syndrome",
67        "DGS1",
68        "DiGeorge syndrome type 1",
69        "22q11.2 Deletion syndrome"
70    ],
71    "term_id": "MONDO:0008564",
72    "term_name": "DiGeorge syndrome",
73    "uuid": "fe463bf9-edd2-4a32-867e-8aca19cf443f"
74}