{
  "id": 14943,
  "label": "peroxisome biogenesis disorder 4B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013931",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19714,
      "label": "autosomal recessive syndromic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019416",
          "MEDGEN:1843251",
          "Orphanet:98099",
          "UMLS:C5681516"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020047"
    },
    {
      "id": 24001,
      "label": "peroxisome biogenesis disorder due to PEX6 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100263"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19714,
      "label": "autosomal recessive syndromic cerebellar ataxia"
    },
    {
      "id": 24001,
      "label": "peroxisome biogenesis disorder due to PEX6 defect"
    }
  ]
}