MONDO:0011582

{
    "@context": "/terms/",
    "@id": "/phenotype-terms/MONDO_0011582/",
    "@type": [
        "PhenotypeTerm",
        "OntologyTerm",
        "Item"
    ],
    "aliases": [
        "kyle-gaulton:phenotype_multipleMitochondrialDysfunctionsSyndrome1"
    ],
    "ancestors": [
        "multiple mitochondrial dysfunctions syndrome 1",
        "sulfur metabolism disease",
        "specifically dependent continuant",
        "inherited fatty acid metabolism disorder",
        "developmental anomaly of metabolic origin",
        "developmental defect during embryogenesis",
        "experimental factor",
        "realizable entity",
        "mitochondrial disease",
        "genetic disorder",
        "inherited lipid metabolism disorder",
        "entity",
        "disposition",
        "inborn disorder of amino acid metabolism",
        "metabolic disease",
        "continuant",
        "inherited lipoic acid biosynthesis defect",
        "inborn mitochondrial metabolism disorder",
        "fatal multiple mitochondrial dysfunctions syndrome",
        "inborn organic aciduria",
        "mineral metabolism disease",
        "disorder of organic acid metabolism",
        "inborn disorder of amino acid and other organic acid metabolism",
        "inborn errors of metabolism",
        "disease",
        "hereditary disease",
        "disorder of development or morphogenesis",
        "inborn disorder of energy metabolism",
        "human disease"
    ],
    "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 1",
        "NFU1 fatal multiple mitochondrial dysfunctions syndrome",
        "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1",
        "NFU1 deficiency",
        "multiple mitochondrial dysfunctions syndrome type 1"
    ],
    "term_id": "MONDO:0011582",
    "term_name": "multiple mitochondrial dysfunctions syndrome 1",
    "uuid": "030c980c-2b90-4c08-912d-efb73262c4f9"
}