{
  "id": 11657,
  "label": "Ritscher-Schinzel syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010499",
  "properties": {
    "xrefs": [
      "DOID:0060572",
      "GARD:0015278",
      "MEDGEN:897005",
      "OMIM:300963",
      "UMLS:C4225419"
    ],
    "synonyms": [
      "CCDC22 Ritscher-Schinzel syndrome",
      "RTSC2",
      "Ritscher-Schinzel syndrome 2",
      "Ritscher-Schinzel syndrome 2, X-linked recessive",
      "Ritscher-Schinzel syndrome caused by mutation in CCDC22",
      "Ritscher-Schinzel syndrome type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18970,
      "label": "Ritscher-Schinzel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060565",
          "GARD:0005666",
          "MEDGEN:163220",
          "MESH:C535313",
          "OMIMPS:220210",
          "Orphanet:7",
          "SCTID:718556007",
          "UMLS:C0796137"
        ],
        "synonyms": [
          "3C syndrome",
          "CCC dysplasia",
          "Craniocerebellocardiac dysplasia",
          "Ritscher-Schinzel syndrome",
          "craniocerebellocardiac dysplasia",
          "Dandy-Walker like malformation with atrioventricular septal defect",
          "Dandy-Walker-like malformation with ASD",
          "Dandy-Walker-like malformation with atrioventricular septal defect",
          "Ritscher Schinzel syndrome",
          "Ritscher-Schinzel cranio-cerebello-cardiac syndrome",
          "cranio-cerebello-cardiac dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019078"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18970,
      "label": "Ritscher-Schinzel syndrome"
    }
  ]
}