{
  "id": 15735,
  "label": "rhizomelic chondrodysplasia punctata type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014743",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24003,
      "label": "peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain"
    }
  ]
}