{
  "id": 24003,
  "label": "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100265",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 16532,
      "label": "rhizomelic chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        18162,
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2580",
          "GARD:0013160",
          "ICD10CM:E71.540",
          "MEDGEN:79471",
          "MESH:D018902",
          "NCIT:C85047",
          "OMIMPS:215100",
          "Orphanet:177",
          "SCTID:56692003",
          "UMLS:C0282529",
          "icd11.foundation:260357080"
        ],
        "synonyms": [
          "RCDP",
          "rhizomelic chondrodysplasia punctata",
          "rhizomelic chondrodysplasia punctata syndrome",
          "rhizomelic dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015776"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 15735,
      "label": "rhizomelic chondrodysplasia punctata type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24003
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110854",
          "GARD:0013320",
          "MEDGEN:900333",
          "OMIM:616716",
          "Orphanet:468717",
          "UMLS:C4225237"
        ],
        "synonyms": [
          "PEX5 rhizomelic chondrodysplasia punctata",
          "RCDP5",
          "Rcdp5",
          "rhizomelic chondrodysplasia punctata caused by mutation in PEX5",
          "rhizomelic chondrodysplasia punctata type 5",
          "rhizomelic chondrodysplasia punctata, type 5"
        ],
        "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 rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014743"
    }
  ],
  "roots": [
    {
      "id": 16532,
      "label": "rhizomelic chondrodysplasia punctata"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 24055,
      "label": "non-Zellweger spectrum disorder"
    }
  ]
}