{
  "id": 10185,
  "label": "Sengers syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008922",
  "properties": {
    "xrefs": [
      "DOID:0080132",
      "GARD:0001142",
      "MEDGEN:395228",
      "MESH:C538280",
      "OMIM:212350",
      "Orphanet:1369",
      "SCTID:717812000",
      "UMLS:C1859317",
      "icd11.foundation:22670425"
    ],
    "synonyms": [
      "Sengers syndrome",
      "mitochondrial DNA depletion syndrome 10",
      "cardiomyopathic mitochondrial DNA depletion syndrome 10",
      "cardiomyopathy and cataract",
      "cataract and cardiomyopathy",
      "congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome",
      "mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17234,
      "label": "mitochondrial substrate carrier disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17233
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020762",
          "MEDGEN:1842923",
          "Orphanet:254830",
          "UMLS:C5680716",
          "icd11.foundation:1118834100"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016801"
    },
    {
      "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"
    },
    {
      "id": 18302,
      "label": "mitochondrial DNA depletion syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070329",
          "GARD:0013643",
          "MEDGEN:452449",
          "MedDRA:10059396",
          "NANDO:2200523",
          "NANDO:2200528",
          "OMIMPS:603041",
          "Orphanet:35698",
          "UMLS:C0342782",
          "icd11.foundation:1159345506"
        ],
        "synonyms": [
          "mtDNA depletion syndrome"
        ],
        "definition": "The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome."
      },
      "child_count": 21,
      "reference_id": "MONDO:0018158"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17234,
      "label": "mitochondrial substrate carrier disorder"
    },
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"
    },
    {
      "id": 18302,
      "label": "mitochondrial DNA depletion syndrome"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}