{
  "id": 9317,
  "label": "microcephaly-deafness-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007991",
  "properties": {
    "xrefs": [
      "GARD:0000230",
      "MEDGEN:163208",
      "MESH:C537326",
      "OMIM:156620",
      "Orphanet:2533",
      "SCTID:716112005",
      "UMLS:C0796062"
    ],
    "synonyms": [
      "Kawashima-Tsuji syndrome",
      "Kawashima Tsuji syndrome",
      "microcephaly deafness syndrome",
      "microcephaly-deafness syndrome",
      "syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies",
      "syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies"
    ],
    "definition": "Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}