{
"@context": "/terms/",
"@id": "/phenotype-terms/MONDO_0012481/",
"@type": [
"PhenotypeTerm",
"OntologyTerm",
"Item"
],
"ancestors": [
"periodic fever syndrome",
"hereditary disease",
"rheumatic disorder",
"mevalonate kinase deficiency",
"continuant",
"experimental factor",
"inborn errors of metabolism",
"rheumatic disease",
"syndromic dyslipidemia",
"syndromic disease",
"inherited lipid metabolism disorder",
"disorder of development or morphogenesis",
"head and neck disorder",
"eye disorder",
"sterol biosynthesis disorder",
"entity",
"disorder of orbital region",
"human disease",
"connective tissue disease",
"disorder of visual system",
"developmental defect during embryogenesis",
"steroid metabolism disease",
"disease",
"characteristic",
"skeletal system disease",
"hereditary disorder of connective tissue",
"connective tissue disorder",
"disposition",
"realizable",
"musculoskeletal system disease",
"sterol metabolism disorder",
"genetic disorder",
"eye disease",
"hereditary periodic fever syndrome",
"mevalonic aciduria",
"disease of orbital region",
"metabolic disease",
"developmental anomaly of metabolic origin",
"autoinflammatory syndrome"
],
"audit": {},
"creation_timestamp": "2023-11-03T21:56:39.876130+00:00",
"name": "MONDO_0012481",
"ontology": "MONDO",
"release_timestamp": "2023-11-06T21:07:25.553034+00:00",
"schema_version": "4",
"status": "released",
"submitted_by": {
"@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
"title": "Ingrid Youngworth"
},
"summary": "mevalonic aciduria",
"synonyms": [
"MVA",
"hyperimmunoglobulin D with periodic fever syndrome",
"complete mevalonate kinase deficiency",
"MKD",
"mevalonic aciduria",
"HIDS"
],
"term_id": "MONDO:0012481",
"term_name": "mevalonic aciduria",
"uuid": "f9643c09-92dc-42e5-b71b-7fdd1c204591"
}