{
  "id": 22656,
  "label": "orofaciodigital syndrome 17",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033375",
  "properties": {
    "xrefs": [
      "DOID:0080289",
      "GARD:0025800",
      "MEDGEN:1644516",
      "OMIM:617926",
      "UMLS:C4693640"
    ],
    "synonyms": [
      "OFD17",
      "OFDS XVII",
      "oral-facial-digital syndrome, type XVII"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "An orofaciodigital syndrome caused by a mutation in the INTU gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16229,
      "label": "orofaciodigital syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16328
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4501",
          "GARD:0010692",
          "ICD9:759.89",
          "MEDGEN:14518",
          "MESH:D009958",
          "NANDO:1201051",
          "NORD:1529",
          "OMIMPS:311200",
          "Orphanet:140997",
          "SCTID:52868006",
          "UMLS:C0029294",
          "icd11.foundation:1405407847"
        ],
        "synonyms": [
          "OFD",
          "Oral-Facial-Digital Syndrome",
          "oral-facial-digital syndrome",
          "orofaciodigital syndrome",
          "oral facial digital syndromes",
          "oral-facial-digital syndromes",
          "orofaciodigital syndromes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait."
      },
      "child_count": 38,
      "reference_id": "MONDO:0015375"
    },
    {
      "id": 29327,
      "label": "INTU-related skeletal ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028167"
        ],
        "definition": "A skeletal ciliopathy caused by a mutation in INTU gene and is characterized by facial dysmorphism, tongue nodules, developmental delay, and polydactyly. Some individuals may also present with short stature, or other variable syndromic findings."
      },
      "child_count": 2,
      "reference_id": "MONDO:1060154"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16229,
      "label": "orofaciodigital syndrome"
    },
    {
      "id": 29327,
      "label": "INTU-related skeletal ciliopathy"
    }
  ]
}