{
  "id": 23970,
  "label": "fatty acyl-CoA reductase 1 upregulation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100230",
  "properties": {
    "xrefs": [
      "GARD:0026090"
    ],
    "synonyms": [
      "FAR1 upregulation",
      "fatty acyl-CoA reductase 1 upregulation"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 24013,
      "label": "fatty acyl-CoA reductase defects",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18162
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026117"
        ],
        "synonyms": [
          "FAR1 defect",
          "fatty acyl-CoA reductase defects"
        ],
        "definition": "Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100275"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 24013,
      "label": "fatty acyl-CoA reductase defects"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}