{
  "id": 29254,
  "label": "NDUFB11-related disorders",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040023",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 11652,
      "label": "linear skin defects with multiple congenital anomalies 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11817,
        29254
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111876",
          "GARD:0015276",
          "MEDGEN:906997",
          "OMIM:300952",
          "UMLS:C4225421"
        ],
        "synonyms": [
          "NDUFB11 microphthalmia with linear skin defects syndrome",
          "linear skin defects with multiple congenital anomalies 3",
          "linear skin defects with multiple congenital anomalies 3, X-linked dominant",
          "linear skin defects with multiple congenital anomalies type 3",
          "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11",
          "LSDMCA3",
          "linear skin defects with cardiomyopathy and Other congenital anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010494"
    },
    {
      "id": 21728,
      "label": "mitochondrial complex I deficiency, nuclear type 30",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23964,
        29254
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112098",
          "GARD:0015284",
          "MEDGEN:1648313",
          "OMIM:301021",
          "UMLS:C4746985"
        ],
        "synonyms": [
          "MC1DN30",
          "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0026721"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}