{
  "id": 11845,
  "label": "orofaciodigital syndrome I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010702",
  "properties": {
    "xrefs": [
      "DOID:0060316",
      "GARD:0004121",
      "MEDGEN:307142",
      "MESH:C537134",
      "NCIT:C75481",
      "OMIM:311200",
      "Orphanet:2750",
      "SCTID:763833006",
      "UMLS:C1510460"
    ],
    "synonyms": [
      "OFD syndrome 1",
      "OFD1",
      "OFDI",
      "OFDS 1",
      "OFDSI",
      "Papillon-Leage and Psaume syndrome",
      "Papillon-Léage-Psaume syndrome",
      "Papillon-league-Psaume syndrome (formerly)",
      "oral facial digital syndrome 1",
      "oral facial digital syndrome type 1",
      "oral-facial-digital syndrome 1",
      "oral-facial-digital syndrome type 1",
      "oral-facial-digital syndrome, type 1",
      "orofaciodigital syndrome 1",
      "orofaciodigital syndrome I",
      "orofaciodigital syndrome i, X-linked dominant",
      "orofaciodigital syndrome type 1",
      "orofaciodigital syndrome type I"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    },
    {
      "id": 29269,
      "label": "OFD1-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028143"
        ],
        "synonyms": [
          "OFD1-related ciliopathy"
        ],
        "definition": "Any ciliopathy caused by monoallelic, biallelic, or hemizygous variants in the OFD1 gene. This disease is characterized by a broad range of phenotypes including Joubert syndrome, orofaciodigital syndrome, retinitis pigmentosa, and primary ciliary dyskinesia."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040039"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    },
    {
      "id": 29269,
      "label": "OFD1-related ciliopathy"
    }
  ]
}