{
  "id": 24001,
  "label": "peroxisome biogenesis disorder due to PEX6 defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100263",
  "properties": {
    "xrefs": [
      "GARD:0026105",
      "OMIM:616617"
    ],
    "synonyms": [
      "PEX6 related Zellweger spectrum disorder",
      "peroxisome biogenesis disorder due to PEX6 defect"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19401,
      "label": "Zellweger spectrum disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19098
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:905",
          "GARD:0007917",
          "ICD10CM:E71.510",
          "MEDGEN:21958",
          "MESH:D015211",
          "NANDO:1200760",
          "NCIT:C85239",
          "NORD:1876",
          "Orphanet:772",
          "Orphanet:912",
          "SCTID:88469006",
          "UMLS:C0043459"
        ],
        "synonyms": [
          "ZS",
          "ZWS",
          "Zellweger spectrum disorders",
          "Zellweger syndrome",
          "cerebrohepatorenal syndrome",
          "Zellweger leukodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019609"
    }
  ],
  "children": [
    {
      "id": 14942,
      "label": "peroxisome biogenesis disorder 4A (Zellweger)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080479",
          "GARD:0015859",
          "MEDGEN:766850",
          "MESH:C563301",
          "NCIT:C155754",
          "OMIM:614862",
          "UMLS:C3553936"
        ],
        "synonyms": [
          "classic peroxisome biogenesis disorder",
          "peroxisome biogenesis disorder 4A (Zellweger)",
          "PBD4A",
          "peroxisome biogenesis disorder, complementation group 4",
          "peroxisome biogenesis disorder, complementation group 6",
          "peroxisome biogenesis disorder, complementation group C"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013930"
    },
    {
      "id": 14943,
      "label": "peroxisome biogenesis disorder 4B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19714,
        24001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081433",
          "DOID:0111612",
          "GARD:0015860",
          "MEDGEN:766851",
          "MESH:C537309",
          "NCIT:C155755",
          "OMIM:271250",
          "OMIM:614863",
          "Orphanet:95433",
          "UMLS:C3553937"
        ],
        "synonyms": [
          "non-classic peroxisome biogenesis disorder",
          "PBD4B",
          "SCABD",
          "SCAR3",
          "autosomal recessive cerebellar ataxia-blindness-deafness syndrome",
          "autosomal recessive spinocerebellar ataxia type 3",
          "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome",
          "peroxisome biogenesis disorder 4B",
          "peroxisome biogenesis disorder type 4B",
          "spinocerebellar ataxia autosomal recessive 3",
          "spinocerebellar ataxia, autosomal recessive 3",
          "autosomal recessive cerebellar ataxia - blindness - deafness",
          "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome",
          "spinocerebellar ataxia with blindness and deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any peroxisome biogenesis disorder due to PEX6 defect characterized by the association of early-onset cerebellar ataxia with hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013931"
    }
  ],
  "roots": [
    {
      "id": 19401,
      "label": "Zellweger spectrum disorders"
    }
  ]
}