{
  "id": 20038,
  "label": "X-linked chondrodysplasia punctata 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020603",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11710,
      "label": "X-linked chondrodysplasia punctata",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        16531,
        19104
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0010556"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11710,
      "label": "X-linked chondrodysplasia punctata"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}