{
  "id": 18034,
  "label": "van Maldergem syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017813",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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": 12196,
      "label": "van Maldergem syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18034
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080585",
          "GARD:0024770",
          "MEDGEN:1644627",
          "OMIM:601390",
          "UMLS:C4551950"
        ],
        "synonyms": [
          "DCHS1 van Maldergem syndrome",
          "Van Maldergem syndrome type 1",
          "van Maldergem syndrome 1",
          "van Maldergem syndrome caused by mutation in DCHS1",
          "Cerebrofacioarticular syndrome",
          "VAN Maldergem syndrome 1",
          "VMLDS1"
        ],
        "definition": "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011070"
    },
    {
      "id": 15248,
      "label": "van Maldergem syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18034
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014242"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}