{
  "id": 11926,
  "label": "MELAS syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010789",
  "properties": {
    "xrefs": [
      "DOID:3687",
      "GARD:0007009",
      "ICD10CM:E88.41",
      "ICD9:277.87",
      "MEDGEN:56485",
      "MESH:D017241",
      "MedDRA:10053872",
      "NANDO:1200176",
      "NANDO:2200525",
      "NCIT:C84885",
      "OMIM:540000",
      "Orphanet:550",
      "SCTID:39925003",
      "UMLS:C0162671"
    ],
    "synonyms": [
      "MELAS syndrome",
      "mitochondrial encephalomyopathy, lactic acidosis and stroke",
      "mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes",
      "mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes",
      "mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes",
      "MELAS",
      "mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "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": 6459,
      "label": "mitochondrial encephalomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        10856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:890",
          "GARD:0024084",
          "ICD9:277.87",
          "MEDGEN:57960",
          "MESH:D017237",
          "SCTID:447292006",
          "UMLS:C0162666"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)"
      },
      "child_count": 2,
      "reference_id": "MONDO:0004675"
    }
  ],
  "children": [
    {
      "id": 24786,
      "label": "MELAS syndrome caused by mutation in MTTL1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026415"
        ],
        "synonyms": [
          "MTTL1 MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800032"
    },
    {
      "id": 24787,
      "label": "MELAS syndrome caused by mutation in MTTQ",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026416"
        ],
        "synonyms": [
          "MTTQ MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTQ gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800033"
    },
    {
      "id": 24788,
      "label": "MELAS syndrome caused by mutation in MTTH",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026417"
        ],
        "synonyms": [
          "MTTH MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800034"
    },
    {
      "id": 24789,
      "label": "MELAS syndrome caused by mutation in MTTK",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026418"
        ],
        "synonyms": [
          "MTTK MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTK gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800035"
    },
    {
      "id": 24790,
      "label": "MELAS syndrome caused by mutation in MTTC",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026419"
        ],
        "synonyms": [
          "MTTC MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTC gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800036"
    },
    {
      "id": 24791,
      "label": "MELAS syndrome caused by mutation in MTTS1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026420"
        ],
        "synonyms": [
          "MTTS1 MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800037"
    },
    {
      "id": 24792,
      "label": "MELAS syndrome caused by mutation in MTND1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026421"
        ],
        "synonyms": [
          "MTND1 MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTND1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800038"
    },
    {
      "id": 24793,
      "label": "MELAS syndrome caused by mutation in MTND5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026422"
        ],
        "synonyms": [
          "MTND5 MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTND5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800039"
    },
    {
      "id": 24794,
      "label": "MELAS syndrome caused by mutation in MTND6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026423"
        ],
        "synonyms": [
          "MTND6 MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTND6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800040"
    },
    {
      "id": 24795,
      "label": "MELAS syndrome caused by mutation in MTTS2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11926
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026424"
        ],
        "synonyms": [
          "MTTS2 MELAS syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any MELAS syndromein which the cause of the disease is a mutation in the MTTS2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800041"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6459,
      "label": "mitochondrial encephalomyopathy"
    }
  ]
}