{
  "id": 19401,
  "label": "Zellweger spectrum disorders",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019609",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "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": 19098,
      "label": "peroxisome biogenesis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        18952,
        18955,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080377",
          "GARD:0011890",
          "MEDGEN:330407",
          "MESH:C531857",
          "MESH:C536664",
          "NANDO:1200759",
          "NANDO:2200575",
          "NCIT:C146639",
          "NCIT:C155747",
          "OMIMPS:214100",
          "Orphanet:79189",
          "SCTID:742876007",
          "UMLS:C1832200",
          "icd11.foundation:1919322367"
        ],
        "synonyms": [
          "PBD, ZSS",
          "PBD-ZSD",
          "peroxisomal biogenesis disorders",
          "peroxisomal biogenesis disorders, Zellweger syndrome spectrum",
          "peroxisome biogenesis disorder",
          "peroxisome biogenesis disorder spectrum",
          "peroxisome biogenesis disorder-Zellweger syndrome spectrum",
          "peroxisome biogenesis disorders, Zellweger syndrome spectrum",
          "cerebrohepatorenal syndrome",
          "PBD-ZSS",
          "PBD-Zellweger spectrum disorder",
          "ZSD",
          "Zellweger spectrum",
          "Zellweger spectrum disorder",
          "Zellweger spectrum disorders",
          "Zellweger syndrome spectrum",
          "disorders of peroxisome biogenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019234"
    }
  ],
  "children": [
    {
      "id": 14956,
      "label": "peroxisome biogenesis disorder 9B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081438",
          "GARD:0015871",
          "MEDGEN:440765",
          "OMIM:614879",
          "UMLS:C2749346"
        ],
        "synonyms": [
          "peroxisome biogenesis disorder 9B",
          "peroxisome biogenesis disorder type 9B",
          "PBD9B",
          "Refsum disease, adult, 2",
          "peroxisome biogenesis disorder, PEX7-related, atypical",
          "peroxisome biogenesis disorder, complementation group 11",
          "peroxisome biogenesis disorder, complementation group R"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013945"
    },
    {
      "id": 23997,
      "label": "peroxisome biogenesis disorder due to PEX1 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026101",
          "OMIM:234580"
        ],
        "synonyms": [
          "PEX1 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX1 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 PEX1 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100259"
    },
    {
      "id": 23998,
      "label": "peroxisome biogenesis disorder due to PEX2 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026102"
        ],
        "synonyms": [
          "PEX2 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX2 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 PEX2 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100260"
    },
    {
      "id": 23999,
      "label": "peroxisome biogenesis disorder due to PEX3 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026103"
        ],
        "synonyms": [
          "PEX3 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX3 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 PEX3 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100261"
    },
    {
      "id": 24000,
      "label": "peroxisome biogenesis disorder due to PEX5 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026104"
        ],
        "synonyms": [
          "PEX5 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX5 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 PEX5 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100262"
    },
    {
      "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"
    },
    {
      "id": 24002,
      "label": "peroxisome biogenesis disorder due to PEX10 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026106"
        ],
        "synonyms": [
          "PEX10 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX10 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 PEX10 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100264"
    },
    {
      "id": 24004,
      "label": "peroxisome biogenesis disorder due to PEX12 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100266"
    },
    {
      "id": 24005,
      "label": "peroxisome biogenesis disorder due to PEX13 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026109"
        ],
        "synonyms": [
          "PEX13 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX13 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 PEX13 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100267"
    },
    {
      "id": 24006,
      "label": "peroxisome biogenesis disorder due to PEX14 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026110"
        ],
        "synonyms": [
          "PEX14 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX14 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 PEX14 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100268"
    },
    {
      "id": 24007,
      "label": "peroxisome biogenesis disorder due to PEX16 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026111"
        ],
        "synonyms": [
          "PEX16 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX16 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 PEX16 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100269"
    },
    {
      "id": 24008,
      "label": "peroxisome biogenesis disorder due to PEX19 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026112"
        ],
        "synonyms": [
          "PEX19 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX19 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 PEX19 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100270"
    },
    {
      "id": 24009,
      "label": "peroxisome biogenesis disorder due to PEX26 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026113"
        ],
        "synonyms": [
          "PEX26 related Zellweger spectrum disorder",
          "peroxisome biogenesis disorder due to PEX26 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 PEX26 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100271"
    },
    {
      "id": 24017,
      "label": "peroxisome biogenesis disorder due to PEX11B defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026121"
        ],
        "synonyms": [
          "PEX11B related peroxisome biogenesis disorder",
          "peroxisome biogenesis disorder due to PEX11B defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100279"
    },
    {
      "id": 24903,
      "label": "peroxisome biogenesis disorder, complementation group 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19401
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026486",
          "MEDGEN:763188",
          "UMLS:C3550274"
        ],
        "synonyms": [
          "CG2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800298"
    }
  ],
  "roots": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 19098,
      "label": "peroxisome biogenesis disorder"
    }
  ]
}