{
  "id": 11493,
  "label": "Atkin-Flaitz syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010323",
  "properties": {
    "xrefs": [
      "GARD:0003537",
      "MEDGEN:163230",
      "MESH:C538195",
      "OMIM:300431",
      "Orphanet:1193",
      "SCTID:718577005",
      "UMLS:C0796206"
    ],
    "synonyms": [
      "Atkin-Flaitz syndrome",
      "X-linked intellectual disability, Atkin type",
      "Atkin syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Atkin-Flaitz syndrome is characterized by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}