{
  "id": 24010,
  "label": "peroxisome biogenesis disorder due to PEX7 defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100272",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 10230,
      "label": "rhizomelic chondrodysplasia punctata type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16532,
        16607,
        24010
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110851",
          "GARD:0006049",
          "MEDGEN:347072",
          "NANDO:1200763",
          "OMIM:215100",
          "Orphanet:309789",
          "UMLS:C1859133",
          "icd11.foundation:44503513"
        ],
        "synonyms": [
          "PBD9",
          "PEX7 rhizomelic chondrodysplasia punctata",
          "Pbd9",
          "RCDP1",
          "Rcdp1",
          "peroxisome biogenesis disorder 9",
          "rhizomelic chondrodysplasia punctata caused by mutation in PEX7",
          "rhizomelic chondrodysplasia punctata type 1",
          "rhizomelic chondrodysplasia punctata, type 1",
          "chondrodysplasia punctata, rhizomelic form",
          "chondrodystrophia calcificans punctata"
        ],
        "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": "A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008972"
    },
    {
      "id": 24043,
      "label": "adult Refsum disease due to PEX7 defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24010
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026136"
        ],
        "synonyms": [
          "adult Refsum disease due to PEX7 defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100307"
    }
  ],
  "roots": [
    {
      "id": 24055,
      "label": "non-Zellweger spectrum disorder"
    }
  ]
}