{
  "id": 11004,
  "label": "orofaciodigital syndrome IV",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009794",
  "properties": {
    "xrefs": [
      "DOID:0060374",
      "GARD:0000816",
      "MEDGEN:98358",
      "MESH:C537133",
      "OMIM:258860",
      "Orphanet:2753",
      "SCTID:239031000",
      "UMLS:C0406727"
    ],
    "synonyms": [
      "Baraitser-Burn syndrome",
      "Mohr-Majewski syndrome",
      "OFD4",
      "oral-facial-digital syndrome type 4",
      "orofaciodigital syndrome IV",
      "orofaciodigital syndrome type 4",
      "orofaciodigital syndrome type IV",
      "OFD syndrome 4",
      "Ofd syndrome with tibial defects",
      "Ofd syndrome, Baraitser-Burn type",
      "Ofds 4",
      "oral facial digital syndrome 4",
      "oral facial digital syndrome type 4",
      "oral-Facial-digital syndrome, type 4",
      "orofaciodigital syndrome 4",
      "orofaciodigital syndrome with tibial dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet."
  },
  "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": 16618,
      "label": "thoracic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19706
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842414",
          "NANDO:2201008",
          "Orphanet:182108",
          "UMLS:C5680597"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 15,
      "reference_id": "MONDO:0015929"
    },
    {
      "id": 19471,
      "label": "short rib dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016822",
          "ICD9:756.3",
          "MEDGEN:609403",
          "Orphanet:93426",
          "SCTID:254050009",
          "UMLS:C0432195"
        ],
        "synonyms": [
          "SRP",
          "short-rib dysplasia (with or without polydactyly)",
          "ciliopathies with major skeletal involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0019691"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16229,
      "label": "orofaciodigital syndrome"
    },
    {
      "id": 16618,
      "label": "thoracic malformation"
    },
    {
      "id": 19471,
      "label": "short rib dysplasia"
    }
  ]
}