{
  "id": 13605,
  "label": "cardiomyopathy-hypotonia-lactic acidosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012557",
  "properties": {
    "xrefs": [
      "GARD:0016795",
      "MEDGEN:324373",
      "MESH:C563665",
      "OMIM:610773",
      "Orphanet:91130",
      "SCTID:718713000",
      "UMLS:C1835845"
    ],
    "synonyms": [
      "hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome",
      "Mpcd",
      "mitochondrial phosphate carrier deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 7626,
      "label": "lactic acidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1000036",
          "MEDGEN:1717",
          "MESH:D000140",
          "SCTID:91273001",
          "UMLS:C0001125"
        ],
        "definition": "Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia."
      },
      "child_count": 3,
      "reference_id": "MONDO:0006040"
    },
    {
      "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": 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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 7626,
      "label": "lactic acidosis"
    },
    {
      "id": 17234,
      "label": "mitochondrial substrate carrier disorder"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    }
  ]
}