{
  "id": 12101,
  "label": "hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010972",
  "properties": {
    "xrefs": [
      "GARD:0005518",
      "MEDGEN:764174",
      "MESH:C536461",
      "OMIM:600991",
      "Orphanet:2180",
      "SCTID:721229003",
      "UMLS:C3551260"
    ],
    "synonyms": [
      "Ferlini-Ragno-Calzolari syndrome",
      "Waaler-Aarskog syndrome",
      "hydrocephalus, Sprengel anomaly, and costovertebral dysplasia",
      "hydrocephalus, costovertebral dysplasia, and Sprengel anomaly",
      "hydrocephalus, skeletal anomalies, and mental disturbance"
    ],
    "definition": "This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    }
  ]
}