{
  "id": 19752,
  "label": "pontocerebellar hypoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020135",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 21,
  "parents": [
    {
      "id": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 10409,
      "label": "pontocerebellar hypoplasia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060273",
          "GARD:0000343",
          "MEDGEN:384027",
          "MESH:C536716",
          "OMIM:225753",
          "Orphanet:166063",
          "SCTID:718608006",
          "UMLS:C1856974",
          "icd11.foundation:447667859"
        ],
        "synonyms": [
          "PCH4",
          "fatal infantile encephalopathy with olivopontocerebellar hypoplasia",
          "olivopontocerebellar hypoplasia",
          "encephalopathy fatal infantile with olivopontocerebellar hypoplasia",
          "encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia",
          "pontocerebellar hypoplasia, type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009166"
    },
    {
      "id": 13020,
      "label": "pontocerebellar hypoplasia type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060272",
          "GARD:0010708",
          "MEDGEN:334225",
          "MESH:C548072",
          "OMIM:608027",
          "Orphanet:97249",
          "SCTID:718609003",
          "UMLS:C1842687",
          "icd11.foundation:378477807"
        ],
        "synonyms": [
          "PCH with optic atrophy",
          "PCH without dyskinesia",
          "PCH3",
          "PCLO non-syndromic pontocerebellar hypoplasia",
          "cerebellar atrophy with progressive microcephaly",
          "clam",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO",
          "Pch with optic atrophy",
          "pontocerebellar hypoplasia, type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011948"
    },
    {
      "id": 13488,
      "label": "pontocerebellar hypoplasia type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060274",
          "GARD:0010709",
          "MEDGEN:341845",
          "MESH:C537745",
          "OMIM:610204",
          "Orphanet:166068",
          "SCTID:718607001",
          "UMLS:C1857762",
          "icd11.foundation:1962551792"
        ],
        "synonyms": [
          "PCH5",
          "fetal-onset olivopontocerebellar hypoplasia",
          "olivopontocerebellar hypoplasia fetal-onset",
          "olivopontocerebellar hypoplasia, fetal-onset",
          "pontocerebellar hypoplasia, type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012438"
    },
    {
      "id": 13723,
      "label": "pontocerebellar hypoplasia type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16918,
        19752
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012683"
    },
    {
      "id": 15000,
      "label": "pontocerebellar hypoplasia type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060277",
          "GARD:0017488",
          "MEDGEN:767123",
          "OMIM:614961",
          "Orphanet:324569",
          "SCTID:718611007",
          "UMLS:C3554209"
        ],
        "synonyms": [
          "CHMP1A non-syndromic pontocerebellar hypoplasia",
          "PCH8",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A",
          "pontocerebellar hypoplasia due to CHMP1A mutation",
          "pontocerebellar hypoplasia type 8",
          "pontocerebellar hypoplasia, type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013990"
    },
    {
      "id": 15003,
      "label": "pontocerebellar hypoplasia type 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060276",
          "GARD:0017315",
          "MEDGEN:767140",
          "OMIM:614969",
          "Orphanet:284339",
          "SCTID:718605009",
          "UMLS:C3554226"
        ],
        "synonyms": [
          "PCH7",
          "TOE1 non-syndromic pontocerebellar hypoplasia",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1",
          "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome",
          "pontocerebellar hypoplasia, type 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013993"
    },
    {
      "id": 15351,
      "label": "pontocerebellar hypoplasia type 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060279",
          "GARD:0017680",
          "MEDGEN:1676575",
          "OMIM:615803",
          "Orphanet:411493",
          "UMLS:C5190575"
        ],
        "synonyms": [
          "CLP1 non-syndromic pontocerebellar hypoplasia",
          "CLP1-related pontocerebellar hypoplasia",
          "PCH10",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1",
          "pontocerebellar hypoplasia, type 10"
        ],
        "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 CLP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014349"
    },
    {
      "id": 15353,
      "label": "pontocerebellar hypoplasia type 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060278",
          "GARD:0017590",
          "MEDGEN:862791",
          "OMIM:615809",
          "Orphanet:369920",
          "UMLS:C4014354"
        ],
        "synonyms": [
          "AMPD2 non-syndromic pontocerebellar hypoplasia",
          "PCH9",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2",
          "pontocerebellar hypoplasia, type 9"
        ],
        "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 AMPD2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014351"
    },
    {
      "id": 15372,
      "label": "pontocerebellar hypoplasia type 2E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060271",
          "GARD:0018348",
          "MEDGEN:862925",
          "OMIM:615851",
          "UMLS:C4014488"
        ],
        "synonyms": [
          "VPS53 non-syndromic pontocerebellar hypoplasia",
          "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53",
          "pontocerebellar hypoplasia type 2E",
          "PCH2E",
          "pontocerebellar hypoplasia, type 2E"
        ],
        "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 VPS53 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014370"
    },
    {
      "id": 16924,
      "label": "pontocerebellar hypoplasia type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        16736,
        19320,
        19752
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0016396"
    },
    {
      "id": 17204,
      "label": "pontocerebellar hypoplasia type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16736,
        19752
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 10,
      "reference_id": "MONDO:0016759"
    },
    {
      "id": 21858,
      "label": "pontocerebellar hypoplasia, type 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112325",
          "GARD:0018032",
          "MEDGEN:1778516",
          "OMIM:619301",
          "Orphanet:613274",
          "UMLS:C5543322"
        ],
        "synonyms": [
          "PCH14",
          "pontocerebellar hypoplasia, type 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030258"
    },
    {
      "id": 21859,
      "label": "pontocerebellar hypoplasia, type 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112326",
          "GARD:0018563",
          "MEDGEN:1781311",
          "OMIM:619302",
          "UMLS:C5543326"
        ],
        "synonyms": [
          "PCH15",
          "pontocerebellar hypoplasia, type 15"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030259"
    },
    {
      "id": 21860,
      "label": "pontocerebellar hypoplasia, type 1E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112330",
          "GARD:0016441",
          "MEDGEN:1788285",
          "OMIM:619303",
          "UMLS:C5543328"
        ],
        "synonyms": [
          "PCH1E",
          "pontocerebellar hypoplasia, type 1E"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030260"
    },
    {
      "id": 21861,
      "label": "pontocerebellar hypoplasia, type 1F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112331",
          "GARD:0016442",
          "MEDGEN:1785905",
          "OMIM:619304",
          "UMLS:C5543331"
        ],
        "synonyms": [
          "PCH1F",
          "pontocerebellar hypoplasia, type 1F"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030261"
    },
    {
      "id": 21918,
      "label": "pontocerebellar hypoplasia, type 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112333",
          "GARD:0025561",
          "MEDGEN:1794197",
          "OMIM:619527",
          "UMLS:C5561987"
        ],
        "synonyms": [
          "PCH16"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030438"
    },
    {
      "id": 22098,
      "label": "pontocerebellar hypoplasia, IIA 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025653",
          "MEDGEN:1809583",
          "OMIM:619909",
          "UMLS:C5676999"
        ],
        "synonyms": [
          "PCH17",
          "pontocerebellar hypoplasia, IIA 17"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030890"
    },
    {
      "id": 22325,
      "label": "pontocerebellar hypoplasia, type 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112327",
          "GARD:0018030",
          "MEDGEN:1648343",
          "OMIM:618266",
          "Orphanet:611256",
          "UMLS:C4748873"
        ],
        "synonyms": [
          "COASY-related pontocerebellar hypoplasia",
          "PCH12",
          "PONTOCEREBELLAR HYPOPLASIA, TYPE 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032643"
    },
    {
      "id": 22487,
      "label": "pontocerebellar hypoplasia, type 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112332",
          "GARD:0018031",
          "MEDGEN:1684708",
          "OMIM:618606",
          "Orphanet:613267",
          "UMLS:C5231425"
        ],
        "synonyms": [
          "PCH13",
          "PONTOCEREBELLAR HYPOPLASIA, TYPE 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032831"
    },
    {
      "id": 23578,
      "label": "pontocerebellar hypoplasia, type 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112324",
          "GARD:0018029",
          "MEDGEN:1627627",
          "OMIM:617695",
          "Orphanet:611247",
          "UMLS:C4540164"
        ],
        "synonyms": [
          "PCH11",
          "Pontocerebellar hypoplasia due to TBC1D23",
          "pontocerebellar hypoplasia, type 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054669"
    },
    {
      "id": 23643,
      "label": "pontocerebellar hypoplasia, type 1D",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19752
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112323",
          "GARD:0016289",
          "MEDGEN:1648387",
          "OMIM:618065",
          "UMLS:C4748058"
        ],
        "synonyms": [
          "pontocerebellar hypoplasia, type 1D",
          "PCH1D"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054844"
    }
  ],
  "roots": [
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}