{
  "id": 15954,
  "label": "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014976",
  "properties": {
    "xrefs": [
      "DOID:0111488",
      "GARD:0017865",
      "MEDGEN:934628",
      "OMIM:617228",
      "Orphanet:478049",
      "UMLS:C4310661"
    ],
    "synonyms": [
      "COXPD31",
      "MIPEP combined oxidative phosphorylation deficiency",
      "combined oxidative phosphorylation deficiency 31",
      "combined oxidative phosphorylation deficiency caused by mutation in MIPEP",
      "combined oxidative phosphorylation deficiency type 31"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3109,
      "label": "combined oxidative phosphorylation deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060286",
          "GARD:0012893",
          "MEDGEN:1626645",
          "OMIMPS:609060",
          "UMLS:C4540031",
          "icd11.foundation:1953023896"
        ],
        "definition": "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes are affected."
      },
      "child_count": 58,
      "reference_id": "MONDO:0000732"
    },
    {
      "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": 3109,
      "label": "combined oxidative phosphorylation deficiency"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}