{
  "id": 15694,
  "label": "Au-Kline syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014700",
  "properties": {
    "xrefs": [
      "GARD:0004064",
      "MEDGEN:900671",
      "MESH:C565736",
      "OMIM:604916",
      "OMIM:616580",
      "Orphanet:2729",
      "Orphanet:453504",
      "SCTID:722065002",
      "UMLS:C4225274"
    ],
    "synonyms": [
      "AUKS",
      "Au-Kline syndrome",
      "Okamoto syndrome",
      "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability",
      "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation",
      "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation",
      "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability",
      "congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18672,
      "label": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        18362,
        24488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017785",
          "Orphanet:453499"
        ],
        "synonyms": [
          "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0018681"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24270,
        24488
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurodevelopmental disorder that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 550,
      "reference_id": "MONDO:0100500"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18672,
      "label": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome"
    },
    {
      "id": 24226,
      "label": "Mendelian neurodevelopmental disorder"
    }
  ]
}