{
  "id": 11710,
  "label": "X-linked chondrodysplasia punctata",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010556",
  "properties": {
    "xrefs": [
      "DOID:0060292",
      "GARD:0024737",
      "MEDGEN:538019",
      "UMLS:C0263627"
    ],
    "synonyms": [
      "CPXD",
      "chondrodysplasia punctata, X-linked",
      "X-linked dominant chondrodysplasia punctata",
      "chondrodysplasia punctata, X-linked dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "X-linked form of chondrodysplasia punctata."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 16531,
      "label": "non-rhizomelic chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19476
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018679",
          "MEDGEN:1842643",
          "Orphanet:176",
          "UMLS:C5681009"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015775"
    },
    {
      "id": 19104,
      "label": "sterol biosynthesis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19117
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018969",
          "MEDGEN:1843040",
          "Orphanet:79195",
          "UMLS:C5681287"
        ],
        "synonyms": [
          "inborn error of sterol biosynthetic process",
          "inborn sterol biosynthetic process disorder",
          "rare inborn error of sterol biosynthetic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process."
      },
      "child_count": 14,
      "reference_id": "MONDO:0019240"
    }
  ],
  "children": [
    {
      "id": 11709,
      "label": "X-linked chondrodysplasia punctata 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11710
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001296",
          "MEDGEN:777171",
          "NANDO:2201356",
          "NANDO:2201360",
          "OMIM:302950",
          "Orphanet:79345",
          "UMLS:C3669395"
        ],
        "synonyms": [
          "ARSE X-linked chondrodysplasia punctata",
          "X-linked chondrodysplasia punctata 1",
          "X-linked chondrodysplasia punctata caused by mutation in ARSE",
          "X-linked chondrodysplasia punctata caused by mutation in arse",
          "arse X-linked chondrodysplasia punctata",
          "brachytelephalangic chondrodysplasia punctata",
          "chondrodysplasia punctata, X-linked recessive, X-linked recessive",
          "CDPX1",
          "CPXR",
          "Cpxr",
          "arylsulfatase E deficiency",
          "chondrodysplasia punctata 1 X-linked recessive",
          "chondrodysplasia punctata 1, X-linked recessive",
          "chondrodysplasia punctata brachytelephalangic",
          "chondrodysplasia punctata, Brachytelephalangic",
          "chondrodysplasia punctata, brachytelephalangic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010555"
    },
    {
      "id": 20038,
      "label": "X-linked chondrodysplasia punctata 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11710,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080352",
          "GARD:0006189",
          "MEDGEN:79381",
          "NANDO:1200630",
          "NANDO:2201357",
          "NORD:1005",
          "OMIM:302960",
          "Orphanet:35173",
          "UMLS:C0282102"
        ],
        "synonyms": [
          "CDPX2",
          "CDPXD",
          "Conrad Hunermann Happle syndrome",
          "Conradi Hunermann syndrome",
          "Conradi Hünermann Syndrome",
          "Conradi-Hunermann syndrome",
          "Conradi-Hunermann-Happle syndrome",
          "Conradi-Hünermann-Happle syndrome",
          "EBP chondrodysplasia punctata",
          "Happle syndrome",
          "X-linked chondrodysplasia punctata type 2",
          "chondrodysplasia punctata 2 X-linked dominant",
          "chondrodysplasia punctata 2, X-linked dominant",
          "chondrodysplasia punctata caused by mutation in EBP",
          "chondrodysplasia punctata, X-linked dominant, X-linked dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020603"
    }
  ],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 16531,
      "label": "non-rhizomelic chondrodysplasia punctata"
    },
    {
      "id": 19104,
      "label": "sterol biosynthesis disorder"
    }
  ]
}