{
  "id": 23327,
  "label": "Al Kaissi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044324",
  "properties": {
    "xrefs": [
      "GARD:0025894",
      "MEDGEN:1611968",
      "OMIM:617694",
      "UMLS:C4540156"
    ],
    "synonyms": [
      "AL KAISSI syndrome",
      "ALKAS",
      "Growth retardation, spine malformation, dysmorphic facies, and developmental delay"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017})."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24320,
      "label": "autosomal recessive syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        24319
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of syndromic intellectual disability."
      },
      "child_count": 14,
      "reference_id": "MONDO:0100598"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24320,
      "label": "autosomal recessive syndromic intellectual disability"
    }
  ]
}