{
  "id": 13236,
  "label": "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012173",
  "properties": {
    "xrefs": [
      "DOID:0061186",
      "GARD:0006867",
      "MEDGEN:778253",
      "NCIT:C129929",
      "OMIM:609016",
      "Orphanet:5",
      "SCTID:726021008",
      "UMLS:C3711645",
      "icd11.foundation:760613381"
    ],
    "synonyms": [
      "HELLP syndrome, maternal, of pregnancy",
      "LCHAD deficiency",
      "LCHADD",
      "fatty liver, acute, of pregnancy",
      "long chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
      "long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency",
      "3-hydroxyacyl-CoA dehydrogenase long chain deficiency",
      "long-chain 3-OH acyl-CoA dehydrogenase deficiency",
      "long-chain 3-hydroxy acyl CoA dehydrogenase deficiency",
      "long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency",
      "trifunctional protein deficiency type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17948,
      "label": "disorder of fatty acid oxidation and ketogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19089,
        22984,
        23517
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021317",
          "MEDGEN:1843280",
          "Orphanet:309115",
          "UMLS:C5681071",
          "icd11.foundation:1861994414"
        ]
      },
      "child_count": 30,
      "reference_id": "MONDO:0017713"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17948,
      "label": "disorder of fatty acid oxidation and ketogenesis"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    }
  ]
}