{
  "id": 10283,
  "label": "cranioectodermal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009032",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 12769,
      "label": "craniosynostosis syndrome, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024817",
          "MEDGEN:338335",
          "MESH:C564700",
          "OMIM:606529",
          "UMLS:C1847865"
        ],
        "synonyms": [
          "autosomal recessive craniosynostosis",
          "craniosynostosis syndrome, autosomal recessive",
          "craniosynostosis, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive form of craniosynostosis."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011679"
    },
    {
      "id": 16201,
      "label": "syndromic craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16310,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019911",
          "MEDGEN:1842203",
          "Orphanet:139393",
          "UMLS:C5680624"
        ],
        "synonyms": [
          "syndrome associated with craniosynostosis",
          "syndromic craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A craniosynostosis that is part of a larger syndrome."
      },
      "child_count": 120,
      "reference_id": "MONDO:0015338"
    },
    {
      "id": 16302,
      "label": "short rib-polydactyly syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16618,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018726",
          "ICD9:756.3",
          "MEDGEN:11412",
          "MESH:D012779",
          "NCIT:C85065",
          "Orphanet:1505",
          "SCTID:205484001",
          "UMLS:C0036996",
          "icd11.foundation:960900212"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial)."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015461"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    }
  ],
  "children": [
    {
      "id": 14358,
      "label": "cranioectodermal dysplasia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10283
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080804",
          "GARD:0015680",
          "MEDGEN:462224",
          "OMIM:613610",
          "UMLS:C3150874"
        ],
        "synonyms": [
          "Cranioectodermal dysplasia type 2",
          "WDR35 cranioectodermal dysplasia",
          "WDR35-related cranioectodermal dysplasia",
          "cranioectodermal dysplasia 2",
          "cranioectodermal dysplasia caused by mutation in WDR35",
          "CED2",
          "CRANIOECTODERMAL dysplasia 2"
        ],
        "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 WDR35 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013323"
    },
    {
      "id": 14601,
      "label": "cranioectodermal dysplasia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10283
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013573"
    },
    {
      "id": 14740,
      "label": "cranioectodermal dysplasia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10283
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080806",
          "GARD:0015796",
          "MEDGEN:482246",
          "OMIM:614378",
          "UMLS:C3280616"
        ],
        "synonyms": [
          "cranioectodermal dysplasia 4",
          "cranioectodermal dysplasia type 4",
          "CED4"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013719"
    },
    {
      "id": 15894,
      "label": "short-rib thoracic dysplasia 16 with or without polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10283,
        18735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016189",
          "MEDGEN:934685",
          "OMIM:617102",
          "UMLS:C4310718"
        ],
        "synonyms": [
          "SRTD16",
          "short-rib thoracic dysplasia 16 with or without polydactyly",
          "short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014915"
    },
    {
      "id": 20333,
      "label": "cranioectodermal dysplasia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10283
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080803",
          "GARD:0025289",
          "MEDGEN:96586",
          "OMIM:218330",
          "UMLS:C0432235"
        ],
        "synonyms": [
          "Sensenbrenner syndrome",
          "CED1",
          "IFT122 cranioectodermal dysplasia",
          "cranioectodermal dysplasia 1",
          "cranioectodermal dysplasia caused by mutation in IFT122",
          "cranioectodermal dysplasia type 1",
          "Levin syndrome 1"
        ],
        "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 IFT122 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021093"
    },
    {
      "id": 26213,
      "label": "cranioectodermal dysplasia 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10283
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028100",
          "MEDGEN:1876450",
          "OMIM:621180",
          "UMLS:C6011237"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976269"
    },
    {
      "id": 26333,
      "label": "cranioectodermal dysplasia 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10283
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028127",
          "OMIM:621337"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979883"
    }
  ],
  "roots": [
    {
      "id": 12769,
      "label": "craniosynostosis syndrome, autosomal recessive"
    },
    {
      "id": 16201,
      "label": "syndromic craniosynostosis"
    },
    {
      "id": 16302,
      "label": "short rib-polydactyly syndrome"
    },
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}