{
  "id": 9449,
  "label": "orofaciodigital syndrome X",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008137",
  "properties": {
    "xrefs": [
      "DOID:0060380",
      "GARD:0004061",
      "MEDGEN:322280",
      "MESH:C563491",
      "OMIM:165590",
      "Orphanet:2756",
      "SCTID:722075004",
      "UMLS:C1833796"
    ],
    "synonyms": [
      "Figuera syndrome",
      "OFD10",
      "oral-facial-digital syndrome type 10",
      "orofaciodigital syndrome X",
      "orofaciodigital syndrome type 10",
      "orofaciodigital syndrome type X",
      "orofaciodigital syndrome with fibular aplasia",
      "OFD syndrome 10",
      "Ofds 10",
      "oral facial digital syndrome 10",
      "oral facial digital syndrome type 10",
      "oral-Facial-digital syndrome with fibular aplasia",
      "oral-Facial-digital syndrome, type 10",
      "oral-facial-digital syndrome 10",
      "orofaciodigital syndrome 10",
      "orofaciodigital syndrome type Figuera"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993."
  },
  "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"
    }
  ]
}