{
  "id": 11005,
  "label": "orofaciodigital syndrome IX",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009795",
  "properties": {
    "xrefs": [
      "DOID:0060382",
      "GARD:0010520",
      "MEDGEN:162908",
      "MESH:C557818",
      "OMIM:258865",
      "Orphanet:141007",
      "SCTID:718680001",
      "UMLS:C0796102"
    ],
    "synonyms": [
      "OFD9",
      "oral-facial-digital syndrome type 9",
      "oral-facial-digital syndrome with retinal abnormalities",
      "orofaciodigital syndrome IX",
      "orofaciodigital syndrome type IX",
      "orofaciodigital syndrome with retinal abnormalities",
      "OFD syndrome 9",
      "Ofds 9",
      "oral facial digital syndrome 9",
      "oral facial digital syndrome type 9",
      "oral-Facial-digital syndrome with retinal abnormalities",
      "oral-Facial-digital syndrome, type 9",
      "orofaciodigital syndrome 9",
      "orofaciodigital syndrome type 9"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disk coloboma and retinal dysplasia with partial detachment)."
  },
  "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"
    }
  ]
}