{
  "id": 23122,
  "label": "Hordnes Engebretsen Knudtson syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0043099",
  "properties": {
    "xrefs": [
      "GARD:0002736",
      "MEDGEN:419333",
      "MESH:C536067",
      "UMLS:C2931100"
    ],
    "synonyms": [
      "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability",
      "acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8367,
      "label": "pulmonary valve stenosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5518
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6420",
          "EFO:1001138",
          "MEDGEN:18768",
          "MESH:D011666",
          "MedDRA:10037450",
          "NANDO:2200304",
          "UMLS:C0034089",
          "icd11.foundation:611886666"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete."
      },
      "child_count": 2,
      "reference_id": "MONDO:0006936"
    },
    {
      "id": 16310,
      "label": "craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2340",
          "GARD:0006209",
          "ICD10CM:Q75.0",
          "MEDGEN:1163",
          "MESH:D003398",
          "MedDRA:10048907",
          "MedDRA:10049889",
          "NANDO:2100227",
          "NCIT:C84655",
          "OMIMPS:123100",
          "Orphanet:1531",
          "UMLS:C0010278",
          "icd11.foundation:458033798"
        ],
        "synonyms": [
          "craniosynostosis syndrome",
          "premature closure of cranial sutures",
          "CSO"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015469"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8367,
      "label": "pulmonary valve stenosis"
    },
    {
      "id": 16310,
      "label": "craniosynostosis"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}