{
  "id": 13723,
  "label": "pontocerebellar hypoplasia type 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012683",
  "properties": {
    "xrefs": [
      "DOID:0060275",
      "GARD:0010710",
      "MEDGEN:370596",
      "MESH:C548074",
      "OMIM:611523",
      "Orphanet:166073",
      "SCTID:718606005",
      "UMLS:C1969084",
      "icd11.foundation:1612653027"
    ],
    "synonyms": [
      "PCH6",
      "RARS2 non-syndromic pontocerebellar hypoplasia",
      "fatal infantile encephalopathy with mitochondrial respiratory chain defects",
      "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2",
      "pontocerebellar hypoplasia type 6",
      "encephalopathy fatal infantile with mitochondrial respiratory chain defects",
      "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects",
      "pontocerebellar hypoplasia, type 6"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 19752,
      "label": "pontocerebellar hypoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060264",
          "GARD:0010977",
          "MEDGEN:224703",
          "MESH:C580383",
          "NORD:1596",
          "OMIMPS:607596",
          "Orphanet:98523",
          "SCTID:45163000",
          "UMLS:C1261175",
          "icd11.foundation:1565266279"
        ],
        "synonyms": [
          "PCH",
          "pontocerebellar hypoplasia",
          "pontoneocerebellar atrophy",
          "pontoneocerebllar hypoplasia",
          "isolated pontocerebellar hypoplasia",
          "nonsyndromic pontocerebellar hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern."
      },
      "child_count": 42,
      "reference_id": "MONDO:0020135"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19752,
      "label": "pontocerebellar hypoplasia"
    }
  ]
}