{
  "id": 16924,
  "label": "pontocerebellar hypoplasia type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016396",
  "properties": {
    "xrefs": [
      "DOID:0112322",
      "GARD:0010704",
      "MEDGEN:1780208",
      "MESH:C548069",
      "Orphanet:2254",
      "SCTID:718610008",
      "UMLS:C5442006",
      "icd11.foundation:1227773923"
    ],
    "synonyms": [
      "MRT32",
      "Norman disease",
      "PCH1",
      "mental retardation, autosomal recessive 32"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "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": 19320,
      "label": "autosomal recessive non-syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        17944,
        24319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060308",
          "GARD:0018643",
          "MEDGEN:1826073",
          "OMIMPS:249500",
          "Orphanet:88616",
          "UMLS:C5680181"
        ],
        "synonyms": [
          "autosomal recessive intellectual disability",
          "intellectual disability, autosomal recessive",
          "AR-NSID",
          "NS-ARID",
          "autosomal recessive non-syndromic intellectual disability",
          "mental retardation, autosomal recessive",
          "non-syndromic intellectual disability, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of non-syndromic intellectual disability."
      },
      "child_count": 204,
      "reference_id": "MONDO:0019502"
    },
    {
      "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": 12945,
      "label": "pontocerebellar hypoplasia type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16924
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060265",
          "GARD:0015416",
          "MEDGEN:335969",
          "OMIM:607596",
          "UMLS:C1843504"
        ],
        "synonyms": [
          "VRK1 non-syndromic pontocerebellar hypoplasia",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1",
          "PCH1A",
          "Pch1",
          "pontocerebellar hypoplasia with anterior horn cell disease",
          "pontocerebellar hypoplasia with infantile spinal muscular atrophy",
          "pontocerebellar hypoplasia, type 1A"
        ],
        "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 VRK1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011866"
    },
    {
      "id": 14866,
      "label": "pontocerebellar hypoplasia type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16924
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060266",
          "GARD:0015834",
          "MEDGEN:766363",
          "OMIM:614678",
          "UMLS:C3553449"
        ],
        "synonyms": [
          "EXOSC3 non-syndromic pontocerebellar hypoplasia",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3",
          "pontocerebellar hypoplasia type 1B",
          "PCH1B",
          "pontocerebellar hypoplasia, type 1B"
        ],
        "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 EXOSC3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013853"
    },
    {
      "id": 15484,
      "label": "pontocerebellar hypoplasia, type 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16924
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112334",
          "GARD:0016058",
          "MEDGEN:863597",
          "OMIM:616081",
          "UMLS:C4015160"
        ],
        "synonyms": [
          "EXOSC8 pontocerebellar hypoplasia type 1",
          "pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8",
          "pontocerebellar hypoplasia, type 1C",
          "PCH1C",
          "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014485"
    }
  ],
  "roots": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 16736,
      "label": "bulbospinal muscular atrophy"
    },
    {
      "id": 19320,
      "label": "autosomal recessive non-syndromic intellectual disability"
    },
    {
      "id": 19752,
      "label": "pontocerebellar hypoplasia"
    }
  ]
}