{
  "id": 19098,
  "label": "peroxisome biogenesis disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019234",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    },
    {
      "id": 18955,
      "label": "peroxisomal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:906",
          "GARD:0018885",
          "ICD9:277.86",
          "ICD9:277.89",
          "MEDGEN:129185",
          "NANDO:1200758",
          "NANDO:2100166",
          "NCIT:C85005",
          "Orphanet:68373",
          "SCTID:238059005",
          "UMLS:C0282528",
          "icd11.foundation:782299726"
        ],
        "synonyms": [
          "disorder of peroxisomal function",
          "peroxisomal disease",
          "peroxisomal disorder",
          "peroxisomal function disorder"
        ],
        "definition": "A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019053"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 24055,
      "label": "non-Zellweger spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19098
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100322"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 18955,
      "label": "peroxisomal disease"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}