MONDO:0011582

{
    "@context": "/terms/",
    "@id": "/phenotype-terms/MONDO_0011582/",
    "@type": [
        "PhenotypeTerm",
        "OntologyTerm",
        "Item"
    ],
    "aliases": [
        "kyle-gaulton:phenotype_multipleMitochondrialDysfunctionsSyndrome1"
    ],
    "ancestors": [
        "inherited fatty acid metabolism disorder",
        "entity",
        "disorder of organic acid metabolism",
        "developmental anomaly of metabolic origin",
        "mitochondrial disease",
        "inborn organic aciduria",
        "disposition",
        "developmental defect during embryogenesis",
        "sulfur metabolism disease",
        "disorder of development or morphogenesis",
        "inborn errors of metabolism",
        "genetic disorder",
        "fatal multiple mitochondrial dysfunctions syndrome",
        "human disease",
        "metabolic disease",
        "inborn disorder of amino acid metabolism",
        "inborn mitochondrial metabolism disorder",
        "multiple mitochondrial dysfunctions syndrome 1",
        "hereditary disease",
        "mineral metabolism disease",
        "inherited lipoic acid biosynthesis defect",
        "continuant",
        "inherited lipid metabolism disorder",
        "inborn disorder of amino acid and other organic acid metabolism",
        "inborn disorder of energy metabolism",
        "disease",
        "realizable entity",
        "specifically dependent continuant",
        "experimental factor"
    ],
    "audit": {},
    "creation_timestamp": "2024-12-03T17:47:39.183448+00:00",
    "description": "multiple mitochondrial dysfunctions syndrome type 1,multiple mitochondrial dysfunctions syndrome 1,NFU1 deficiency,NFU1 fatal multiple mitochondrial dysfunctions syndrome,fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1",
    "name": "MONDO_0011582",
    "ontology": "MONDO",
    "release_timestamp": "2025-01-10T04:16:51.197061+00:00",
    "schema_version": "4",
    "status": "released",
    "submitted_by": {
        "@id": "/users/5e3038c4-baa5-4589-b3d8-ad2fe634e826/",
        "title": "Ying Sun"
    },
    "submitter_comment": "MONDO term",
    "summary": "multiple mitochondrial dysfunctions syndrome 1",
    "synonyms": [
        "NFU1 deficiency",
        "multiple mitochondrial dysfunctions syndrome type 1",
        "multiple mitochondrial dysfunctions syndrome 1",
        "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1",
        "NFU1 fatal multiple mitochondrial dysfunctions syndrome"
    ],
    "term_id": "MONDO:0011582",
    "term_name": "multiple mitochondrial dysfunctions syndrome 1",
    "uuid": "030c980c-2b90-4c08-912d-efb73262c4f9"
}