{
  "id": 17204,
  "label": "pontocerebellar hypoplasia type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016759",
  "properties": {
    "xrefs": [
      "DOID:0112328",
      "GARD:0010705",
      "MEDGEN:420956",
      "MESH:C548070",
      "NCIT:C124057",
      "Orphanet:2524",
      "SCTID:715463008",
      "UMLS:C2932714",
      "icd11.foundation:1158649247"
    ],
    "synonyms": [
      "PCH2",
      "progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16736,
      "label": "bulbospinal muscular atrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3724
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020365",
          "MEDGEN:95977",
          "NANDO:1200001",
          "Orphanet:206701",
          "SCTID:230253001",
          "UMLS:C0393547",
          "icd11.foundation:1604214898"
        ],
        "synonyms": [
          "SBMA",
          "bulbospinal muscular atrophy",
          "spinal and bulbal muscular atrophy",
          "spinal-bulbar muscular atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0016113"
    },
    {
      "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": [
    {
      "id": 11372,
      "label": "pontocerebellar hypoplasia type 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060267",
          "GARD:0015244",
          "MEDGEN:376379",
          "MESH:C564738",
          "OMIM:277470",
          "UMLS:C1848526"
        ],
        "synonyms": [
          "TSEN54 pontocerebellar hypoplasia type 2",
          "pontocerebellar hypoplasia type 2 caused by mutation in TSEN54",
          "PCH2A",
          "Pch2",
          "Volendam neurodegenerative disease",
          "microcephaly pontocerebellar hypoplasia dyskinesia",
          "pontocerebellar hypoplasia with progressive cerebral atrophy",
          "pontocerebellar hypoplasia, type 2A"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010190"
    },
    {
      "id": 13930,
      "label": "pontocerebellar hypoplasia type 2B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060268",
          "GARD:0015553",
          "MEDGEN:393505",
          "MESH:C567325",
          "OMIM:612389",
          "UMLS:C2676466"
        ],
        "synonyms": [
          "TSEN2 non-syndromic pontocerebellar hypoplasia",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2",
          "pontocerebellar hypoplasia type 2B",
          "PCH2B",
          "pontocerebellar hypoplasia, type 2B"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012890"
    },
    {
      "id": 13931,
      "label": "pontocerebellar hypoplasia type 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060269",
          "GARD:0015554",
          "MEDGEN:382856",
          "MESH:C567324",
          "OMIM:612390",
          "UMLS:C2676465"
        ],
        "synonyms": [
          "TSEN34 non-syndromic pontocerebellar hypoplasia",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34",
          "PCH2C",
          "pontocerebellar hypoplasia, type 2C"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012891"
    },
    {
      "id": 14470,
      "label": "pontocerebellar hypoplasia type 2D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060270",
          "GARD:0015717",
          "MEDGEN:462490",
          "OMIM:613811",
          "UMLS:C3151140"
        ],
        "synonyms": [
          "SEPSECS non-syndromic pontocerebellar hypoplasia",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS",
          "pontocerebellar hypoplasia type 2D",
          "Cerebellocerebral atrophy, progressive",
          "PCH2D",
          "cerebello-cerebral atrophy, progressive",
          "pontocerebellar hypoplasia, type 2D"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013438"
    },
    {
      "id": 15856,
      "label": "pontocerebellar hypoplasia, type 2F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112329",
          "GARD:0016178",
          "MEDGEN:934724",
          "OMIM:617026",
          "UMLS:C4310757"
        ],
        "synonyms": [
          "PCH2F",
          "TSEN15 non-syndromic pontocerebellar hypoplasia",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15",
          "pontocerebellar hypoplasia, type 2F",
          "pontocerebellar hypoplasia, type 2F; PCH2F"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014874"
    }
  ],
  "roots": [
    {
      "id": 16736,
      "label": "bulbospinal muscular atrophy"
    },
    {
      "id": 19752,
      "label": "pontocerebellar hypoplasia"
    }
  ]
}