MONDO:0011582

{
    "@context": "/terms/",
    "@id": "/phenotype-terms/MONDO_0011582/",
    "@type": [
        "PhenotypeTerm",
        "OntologyTerm",
        "Item"
    ],
    "aliases": [
        "kyle-gaulton:phenotype_multipleMitochondrialDysfunctionsSyndrome1"
    ],
    "ancestors": [
        "disposition",
        "mineral metabolism disease",
        "sulfur metabolism disease",
        "hereditary disease",
        "metabolic disease",
        "disorder of organic acid metabolism",
        "experimental factor",
        "inborn disorder of amino acid and other organic acid metabolism",
        "inherited fatty acid metabolism disorder",
        "genetic disorder",
        "inherited lipoic acid biosynthesis defect",
        "inborn mitochondrial metabolism disorder",
        "inherited lipid metabolism disorder",
        "continuant",
        "inborn organic aciduria",
        "disease",
        "developmental anomaly of metabolic origin",
        "disorder of development or morphogenesis",
        "human disease",
        "specifically dependent continuant",
        "mitochondrial disease",
        "multiple mitochondrial dysfunctions syndrome 1",
        "entity",
        "inborn errors of metabolism",
        "realizable entity",
        "developmental defect during embryogenesis",
        "inborn disorder of amino acid metabolism",
        "fatal multiple mitochondrial dysfunctions syndrome",
        "inborn disorder of energy metabolism"
    ],
    "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": [
        "multiple mitochondrial dysfunctions syndrome type 1",
        "NFU1 deficiency",
        "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"
}