{
  "id": 9574,
  "label": "orofaciodigital syndrome V",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008267",
  "properties": {
    "xrefs": [
      "DOID:0060375",
      "GARD:0004120",
      "MEDGEN:358131",
      "MESH:C557819",
      "OMIM:174300",
      "Orphanet:2919",
      "SCTID:722105002",
      "UMLS:C1868118"
    ],
    "synonyms": [
      "OFD5",
      "Thurston syndrome",
      "oral-facial-digital syndrome type 5",
      "orofaciodigital syndrome V",
      "orofaciodigital syndrome type 5",
      "orofaciodigital syndrome type V",
      "orofaciodigital syndrome, Thurston type",
      "polydactyly postaxial with median cleft of upper lip",
      "OFD syndrome 5",
      "Ofds 5",
      "oral facial digital syndrome 5",
      "oral facial digital syndrome type 5",
      "oral-Facial-digital syndrome, type 5",
      "oral-facial-digital syndrome 5",
      "orofaciodigital syndrome 5",
      "polydactyly, postaxial, with Median cleft of upper lip"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum)."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16229,
      "label": "orofaciodigital syndrome"
    }
  ]
}