{
  "id": 11358,
  "label": "orofaciodigital syndrome type 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010176",
  "properties": {
    "xrefs": [
      "DOID:0060376",
      "GARD:0004412",
      "MEDGEN:411200",
      "MESH:C536531",
      "NCIT:C124841",
      "OMIM:277170",
      "Orphanet:2754",
      "SCTID:721873007",
      "UMLS:C2745997"
    ],
    "synonyms": [
      "Joubert syndrome with oral-facial-digital syndrome",
      "Joubert syndrome with orofaciodigital defect",
      "OFD6",
      "Varadi syndrome",
      "Varadi-Papp syndrome",
      "oral-facial-digital syndrome type 6",
      "orofaciodigital syndrome VI",
      "orofaciodigital syndrome type 6",
      "polydactyly-cleft lip/palate-psychomotor retardation syndrome",
      "Ofds 6",
      "Váradi syndrome",
      "Váradi-Papp syndrome",
      "oral-Facial-digital syndrome, type 6",
      "orofaciodigital syndrome 6",
      "polydactyly - cleft lip/palate - psychomotor retardation",
      "polydactyly cleft lip palate psychomotor retardation",
      "polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14838,
      "label": "Joubert syndrome 17",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110986",
          "GARD:0015824",
          "MEDGEN:766178",
          "NCIT:C175702",
          "OMIM:614615",
          "UMLS:C3553264"
        ],
        "synonyms": [
          "CPLANE1 Joubert syndrome",
          "JBTS17",
          "Joubert syndrome 17",
          "Joubert syndrome caused by mutation in CPLANE1",
          "Joubert syndrome type 17"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0013824"
    },
    {
      "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": 19709,
      "label": "central nervous system malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019394",
          "ICD10CM:Q00-Q07",
          "MEDGEN:374250",
          "MESH:D009421",
          "NANDO:2200118",
          "Orphanet:98044",
          "UMLS:C1839543"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 108,
      "reference_id": "MONDO:0020022"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14838,
      "label": "Joubert syndrome 17"
    },
    {
      "id": 16229,
      "label": "orofaciodigital syndrome"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}