{
  "id": 10599,
  "label": "McKusick-Kaufman syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009367",
  "properties": {
    "xrefs": [
      "DOID:0111255",
      "GARD:0003427",
      "ICD9:758.89",
      "MEDGEN:184924",
      "MESH:C538159",
      "MedDRA:10052312",
      "OMIM:236700",
      "Orphanet:2473",
      "SCTID:702407009",
      "UMLS:C0948368"
    ],
    "synonyms": [
      "Kaufman-Mckusick syndrome",
      "McKusick-Kaufman syndrome",
      "hydrometrocolpos-postaxial polydactyly syndrome",
      "HMCS",
      "Kaufman McKusick syndrome",
      "MCKUSICK-Kaufman syndrome",
      "MKKS",
      "McKusick Kaufman syndrome",
      "hydrometrocolpos syndrome",
      "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation"
    ],
    "definition": "McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations."
  },
  "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"
    },
    {
      "id": 29280,
      "label": "MKKS-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027252"
        ],
        "synonyms": [
          "MKKS-related ciliopathy"
        ],
        "definition": "Any ciliopathy caused by variants in the MKKS gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1040050"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 29280,
      "label": "MKKS-related ciliopathy"
    }
  ]
}