{
  "id": 15248,
  "label": "van Maldergem syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014242",
  "properties": {
    "xrefs": [
      "DOID:0080586",
      "GARD:0015984",
      "MEDGEN:816205",
      "OMIM:615546",
      "UMLS:C3809875"
    ],
    "synonyms": [
      "FAT4 van Maldergem syndrome",
      "Van Maldergem syndrome type 2",
      "van Maldergem syndrome 2",
      "van Maldergem syndrome caused by mutation in FAT4",
      "VAN Maldergem syndrome 2",
      "VMLDS2"
    ],
    "definition": "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18034,
      "label": "van Maldergem syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060238",
          "GARD:0005456",
          "MEDGEN:318616",
          "OMIMPS:601390",
          "Orphanet:314679",
          "UMLS:C1832390"
        ],
        "synonyms": [
          "Van Maldergem syndrome",
          "Van Maldergem Wetzburger Verloes syndrome",
          "cerebro-facio-articular syndrome of Van Maldergem"
        ],
        "definition": "A rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017813"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18034,
      "label": "van Maldergem syndrome"
    }
  ]
}