{
  "id": 18672,
  "label": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018681",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 24488,
      "label": "neurodevelopmental disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0010642",
          "MEDGEN:453059",
          "MESH:D065886",
          "MedDRA:10064062",
          "NCIT:C89338",
          "SCTID:700364009",
          "UMLS:C1535926"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions."
      },
      "child_count": 18,
      "reference_id": "MONDO:0700092"
    }
  ],
  "children": [
    {
      "id": 15694,
      "label": "Au-Kline syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18672,
        24226
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014700"
    },
    {
      "id": 18281,
      "label": "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17327,
        18672
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021526",
          "MEDGEN:1842292",
          "Orphanet:352665",
          "UMLS:C5679925"
        ],
        "synonyms": [
          "9q21 microdeletion syndrome",
          "Del(9)(q21)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018131"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 24488,
      "label": "neurodevelopmental disorder"
    }
  ]
}