{
  "id": 12769,
  "label": "craniosynostosis syndrome, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011679",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10074,
      "label": "Antley-Bixler syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12769,
        16088,
        16201
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008803"
    },
    {
      "id": 10283,
      "label": "cranioectodermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12769,
        16201,
        16302,
        16626,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050577",
          "GARD:0000359",
          "ICD9:756.9",
          "MEDGEN:1641011",
          "NCIT:C129305",
          "OMIMPS:218330",
          "Orphanet:1515",
          "SCTID:254093009",
          "UMLS:C4551571",
          "icd11.foundation:1588881145"
        ],
        "synonyms": [
          "CED",
          "Sensenbrenner syndrome",
          "cranioectodermal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa)."
      },
      "child_count": 35,
      "reference_id": "MONDO:0009032"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16310,
      "label": "craniosynostosis"
    }
  ]
}