{
  "id": 10129,
  "label": "Biemond syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008864",
  "properties": {
    "xrefs": [
      "GARD:0000882",
      "MEDGEN:347159",
      "MESH:C565902",
      "OMIM:210350",
      "Orphanet:141333",
      "SCTID:717887003",
      "UMLS:C1859487"
    ],
    "synonyms": [
      "Biemond syndrome type 2",
      "hypogonadism-short stature-coloboma-preaxial polydactyly syndrome",
      "BIEMOND syndrome II",
      "BS2",
      "Biemond syndrome 2",
      "iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly",
      "iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly"
    ],
    "definition": "Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}