{
  "id": 24004,
  "label": "peroxisome biogenesis disorder due to PEX12 defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100266",
  "properties": {
    "xrefs": [
      "GARD:0026108"
    ],
    "synonyms": [
      "PEX12 related Zellweger spectrum disorder",
      "peroxisome biogenesis disorder due to PEX12 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 PEX12 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 11160,
      "label": "peroxisome biogenesis disorder type 3B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24004
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081241",
          "GARD:0015226",
          "MEDGEN:763607",
          "OMIM:266510",
          "UMLS:C3550693"
        ],
        "synonyms": [
          "infantile phytanic acid storage disease",
          "peroxisome biogenesis disorder 3B",
          "peroxisome biogenesis disorder type 3B",
          "PBD3B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009959"
    },
    {
      "id": 14939,
      "label": "peroxisome biogenesis disorder 3A (Zellweger)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24004
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080478",
          "GARD:0015858",
          "MEDGEN:766843",
          "MESH:C566633",
          "NCIT:C155752",
          "OMIM:614859",
          "UMLS:C3553929"
        ],
        "synonyms": [
          "peroxisome biogenesis disorder 3A (Zellweger)",
          "PBD3A",
          "peroxisome biogenesis disorder, complementation group 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013927"
    },
    {
      "id": 24953,
      "label": "peroxisome biogenesis disorder, complementation group 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24004
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026523",
          "MEDGEN:356508",
          "UMLS:C1866340"
        ],
        "synonyms": [
          "CG3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800364"
    }
  ],
  "roots": [
    {
      "id": 19401,
      "label": "Zellweger spectrum disorders"
    }
  ]
}