{
  "id": 18970,
  "label": "Ritscher-Schinzel syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019078",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "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": [
    {
      "id": 10322,
      "label": "Ritscher-Schinzel syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18970
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060571",
          "GARD:0015160",
          "MEDGEN:1634646",
          "OMIM:220210",
          "UMLS:C4551776"
        ],
        "synonyms": [
          "Ritscher-Schinzel syndrome 1",
          "Ritscher-Schinzel syndrome caused by mutation in WASHC5",
          "Ritscher-Schinzel syndrome type 1",
          "WASHC5 Ritscher-Schinzel syndrome",
          "3C syndrome",
          "Craniocerebellocardiac dysplasia",
          "Dandy-Walker-like malformation with atrioventricular septal defect",
          "RTSC",
          "RTSC1",
          "Ritscher-Schinzel syndrome"
        ],
        "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 WASHC5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009073"
    },
    {
      "id": 11657,
      "label": "Ritscher-Schinzel syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18970
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010499"
    },
    {
      "id": 21887,
      "label": "Ritscher-Schinzel syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18970
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025541",
          "MEDGEN:1794149",
          "OMIM:619435",
          "UMLS:C5561939"
        ],
        "synonyms": [
          "RTSC4",
          "Ritscher-Schinzel syndrome 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030331"
    },
    {
      "id": 22079,
      "label": "Ritscher-Schinzel syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18970
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016426",
          "MEDGEN:1744611",
          "OMIM:619135",
          "UMLS:C5436883"
        ],
        "synonyms": [
          "RTSC3",
          "Ritscher-Schinzel syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030864"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 19709,
      "label": "central nervous system malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}