{
  "id": 10074,
  "label": "Antley-Bixler syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008803",
  "properties": {
    "xrefs": [
      "DOID:0050462",
      "DOID:0081289",
      "GARD:0005826",
      "MEDGEN:1714404",
      "NANDO:1200669",
      "NANDO:2200975",
      "NORD:792",
      "Orphanet:83",
      "SCTID:62964007",
      "UMLS:C5234850",
      "icd11.foundation:2027710139"
    ],
    "synonyms": [
      "Antley Bixler syndrome",
      "multisynostotic osteodysgenesis with long bone fractures",
      "osteodysgenesis, multisynostotic with fractures",
      "osteodysgenesis, multisynostotic, with fractures",
      "trapezoidocephaly synostosis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 12769,
      "label": "craniosynostosis syndrome, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16310
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024817",
          "MEDGEN:338335",
          "MESH:C564700",
          "OMIM:606529",
          "UMLS:C1847865"
        ],
        "synonyms": [
          "autosomal recessive craniosynostosis",
          "craniosynostosis syndrome, autosomal recessive",
          "craniosynostosis, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive form of craniosynostosis."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011679"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 16201,
      "label": "syndromic craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16310,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019911",
          "MEDGEN:1842203",
          "Orphanet:139393",
          "UMLS:C5680624"
        ],
        "synonyms": [
          "syndrome associated with craniosynostosis",
          "syndromic craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A craniosynostosis that is part of a larger syndrome."
      },
      "child_count": 120,
      "reference_id": "MONDO:0015338"
    }
  ],
  "children": [
    {
      "id": 9999,
      "label": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016665",
          "MEDGEN:461449",
          "NCIT:C178415",
          "OMIM:201750",
          "Orphanet:63269",
          "UMLS:C3150099"
        ],
        "synonyms": [
          "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis",
          "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis",
          "ABS1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008726"
    },
    {
      "id": 20080,
      "label": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10074
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081290",
          "GARD:0022389",
          "MEDGEN:422448",
          "OMIM:207410",
          "Orphanet:596008",
          "UMLS:C2936791"
        ],
        "synonyms": [
          "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis",
          "ABS2",
          "multisynostotic osteodysgenesis with long bone fractures",
          "osteodysgenesis, multisynostotic, with fractures",
          "trapezoidocephaly-synostosis Syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020667"
    }
  ],
  "roots": [
    {
      "id": 12769,
      "label": "craniosynostosis syndrome, autosomal recessive"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 16201,
      "label": "syndromic craniosynostosis"
    }
  ]
}