{
  "id": 24055,
  "label": "non-Zellweger spectrum disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100322",
  "properties": {
    "xrefs": [
      "GARD:0026143"
    ],
    "synonyms": [
      "non-Zellweger spectrum disorder"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 24003,
      "label": "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16532,
        16607,
        24055
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026107"
        ],
        "synonyms": [
          "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100265"
    },
    {
      "id": 24010,
      "label": "peroxisome biogenesis disorder due to PEX7 defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24055
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026114"
        ],
        "synonyms": [
          "PEX7 related peroxisome biogenesis disorder",
          "adult refsum disease due to PEX7 defect (formerly)",
          "rhizomelic chondrodysplasia punctata type 1 (formerly)"
        ],
        "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 PEX7 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100272"
    }
  ],
  "roots": [
    {
      "id": 19098,
      "label": "peroxisome biogenesis disorder"
    }
  ]
}