{
  "id": 17687,
  "label": "preaxial polydactyly-colobomata-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017377",
  "properties": {
    "xrefs": [
      "GARD:0004304",
      "MEDGEN:444110",
      "MESH:C537888",
      "Orphanet:2921",
      "SCTID:733088002",
      "UMLS:C2931655"
    ],
    "synonyms": [
      "Pfeiffer-Mayer syndrome",
      "Pfeiffer Mayer syndrome",
      "short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities",
      "short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities"
    ],
    "definition": "Preaxial polydactyly-colobomata-intellectual disability syndrome is characterized by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive."
  },
  "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"
    }
  ]
}