{
  "id": 18725,
  "label": "DeSanto-Shinawi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018760",
  "properties": {
    "xrefs": [
      "DOID:0081126",
      "GARD:0017838",
      "MEDGEN:908218",
      "Orphanet:466943",
      "UMLS:C4225239"
    ],
    "synonyms": [
      "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 15733,
      "label": "DeSanto-Shinawi syndrome due to WAC point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        18725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017839",
          "MEDGEN:1841517",
          "OMIM:616708",
          "Orphanet:466950",
          "UMLS:C5681129"
        ],
        "synonyms": [
          "DESANTO-SHINAWI syndrome",
          "DESSH",
          "Desanto-Shinawi syndrome",
          "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation",
          "chromosome 10P12-p11 deletion syndrome",
          "developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities",
          "developmental delay, behavioural abnormalities, Facial Dysmorphism, and ocular abnormalities"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014741"
    },
    {
      "id": 17607,
      "label": "DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17315,
        18725
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017311",
          "MEDGEN:1681325",
          "Orphanet:284169",
          "UMLS:C5190804"
        ],
        "synonyms": [
          "10p12p11 microdeletion syndrome",
          "Del(10)(p11.21p12.31)",
          "deletion 10p11.21p12.31",
          "facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion",
          "monosomy 10p11.21p12.31"
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017283"
    }
  ],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}