{
  "id": 14601,
  "label": "cranioectodermal dysplasia 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013573",
  "properties": {
    "xrefs": [
      "DOID:0080805",
      "GARD:0015757",
      "MEDGEN:481437",
      "OMIM:614099",
      "UMLS:C3279807"
    ],
    "synonyms": [
      "Cranioectodermal dysplasia type 3",
      "IFT43 cranioectodermal dysplasia",
      "cranioectodermal dysplasia 3",
      "cranioectodermal dysplasia caused by mutation in IFT43",
      "CED3",
      "CRANIOECTODERMAL dysplasia 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10283,
      "label": "cranioectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12769,
        16201,
        16302,
        16626,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050577",
          "GARD:0000359",
          "ICD9:756.9",
          "MEDGEN:1641011",
          "NCIT:C129305",
          "OMIMPS:218330",
          "Orphanet:1515",
          "SCTID:254093009",
          "UMLS:C4551571",
          "icd11.foundation:1588881145"
        ],
        "synonyms": [
          "CED",
          "Sensenbrenner syndrome",
          "cranioectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."
      },
      "child_count": 35,
      "reference_id": "MONDO:0009032"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10283,
      "label": "cranioectodermal dysplasia"
    }
  ]
}