{
  "id": 11698,
  "label": "Barth syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010543",
  "properties": {
    "xrefs": [
      "DOID:0050476",
      "GARD:0005890",
      "ICD10CM:E78.71",
      "MEDGEN:107893",
      "MESH:D056889",
      "NANDO:1200991",
      "NANDO:2200751",
      "NCIT:C84585",
      "NORD:840",
      "OMIM:302060",
      "Orphanet:111",
      "SCTID:297231002",
      "UMLS:C0574083",
      "icd11.foundation:452199926"
    ],
    "synonyms": [
      "3-methylglutaconic aciduria type 2",
      "BTHS",
      "Barth syndrome",
      "Barth syndrome, X-linked recessive",
      "MGA2",
      "X-linked cardioskeletal myopathy and neutropenia",
      "cardioskeletal myopathy with neutropenia and abnormal mitochondria",
      "cardioskeletal myopathy-neutropenia syndrome",
      "3-Methylglutaconic aciduria, type 2",
      "3-methylglutaconic aciduria type II",
      "BARTH syndrome",
      "Mga, type 2",
      "TAZ defect"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "id": 16076,
      "label": "constitutional neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3689,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019809",
          "MEDGEN:1785816",
          "NCIT:C61242",
          "Orphanet:101987",
          "UMLS:C3805116",
          "icd11.foundation:87096615"
        ],
        "synonyms": [
          "congenital neutropenia",
          "genetic infantile agranulocytosis",
          "infantile genetic agranulocytosis",
          "Kostmann disease",
          "Kostmann neutropenia",
          "Kostmann syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015134"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6757,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020525",
          "MEDGEN:90951",
          "MESH:C536231",
          "OMIMPS:115200",
          "Orphanet:217607",
          "UMLS:C0340427",
          "icd11.foundation:423719003"
        ],
        "synonyms": [
          "hereditary dilated cardiomyopathy",
          "DCM",
          "dilated cardiomyopathy, familial",
          "hypokinetic dilated cardiomyopathy, familial",
          "idiopathic dilated cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure."
      },
      "child_count": 58,
      "reference_id": "MONDO:0016333"
    },
    {
      "id": 17675,
      "label": "3-methylglutaconic aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060336",
          "GARD:0012966",
          "ICD10CM:E71.111",
          "MEDGEN:777186",
          "MESH:C579867",
          "NANDO:1200989",
          "NANDO:2200496",
          "NCIT:C98678",
          "OMIMPS:250950",
          "Orphanet:289902",
          "SCTID:237950009",
          "UMLS:C3696376",
          "icd11.foundation:1008261602"
        ],
        "definition": "A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine."
      },
      "child_count": 10,
      "reference_id": "MONDO:0017359"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021516",
          "MEDGEN:1843236",
          "Orphanet:352301",
          "UMLS:C5680990"
        ]
      },
      "child_count": 17,
      "reference_id": "MONDO:0018117"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 16076,
      "label": "constitutional neutropenia"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 16878,
      "label": "familial dilated cardiomyopathy"
    },
    {
      "id": 17675,
      "label": "3-methylglutaconic aciduria"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"
    }
  ]
}