{
  "id": 10230,
  "label": "rhizomelic chondrodysplasia punctata type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008972",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16532,
      "label": "rhizomelic chondrodysplasia punctata"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 24010,
      "label": "peroxisome biogenesis disorder due to PEX7 defect"
    }
  ]
}