{
  "id": 10366,
  "label": "von Voss-Cherstvoy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009121",
  "properties": {
    "xrefs": [
      "GARD:0001894",
      "MEDGEN:341728",
      "MESH:C565618",
      "OMIM:223340",
      "Orphanet:3439",
      "SCTID:719021005",
      "UMLS:C1857226"
    ],
    "synonyms": [
      "DK phocomelia syndrome",
      "phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome",
      "von Voss-Cherstvoy syndrome",
      "Von Voss Cherstvoy syndrome",
      "phocomelia thrombocytopenia encephalocele and urogenital malformations",
      "phocomelia, thrombocytopenia, encephalocele, urogenital malformations"
    ],
    "definition": "Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia."
  },
  "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"
    }
  ]
}