{
  "id": 10122,
  "label": "Beemer-Ertbruggen syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008857",
  "properties": {
    "xrefs": [
      "GARD:0000846",
      "MEDGEN:347174",
      "MESH:C537668",
      "OMIM:209970",
      "Orphanet:1237",
      "SCTID:717859007",
      "UMLS:C1859526"
    ],
    "synonyms": [
      "lethal hydrocephalus-cardiac malformation-dense bones syndrome",
      "Beemer Ertbruggen syndrome",
      "Beemer lethal malformation syndrome",
      "hydrocephalus, Cardiac malformation, dense bones, etc.",
      "hydrocephalus, cardiac malformation, dense bones, etc",
      "peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome"
    ],
    "definition": "Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    }
  ]
}