{
  "id": 11362,
  "label": "autosomal recessive spondylocostal dysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010180",
  "properties": {
    "xrefs": [
      "GARD:0006798",
      "ICD9:756.9",
      "MESH:C535781",
      "Orphanet:2311",
      "SCTID:61367005"
    ],
    "synonyms": [
      "Jarcho-Levin syndrome",
      "spondylocostal dysostosis, autosomal recessive",
      "SCDO1",
      "costovertebral dysplasia",
      "spondylocostal dysostosis 1, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 2864,
      "label": "spondylocostal dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3140,
        5714,
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050568",
          "GARD:0012174",
          "MEDGEN:82707",
          "MESH:C537565",
          "NCIT:C125598",
          "NORD:1308",
          "OMIMPS:277300",
          "UMLS:C0265343"
        ],
        "synonyms": [
          "Spondylocostal Dysplasia",
          "costovertebral dysplasia",
          "spondylocostal dysostosis",
          "spondylocostal dysplasia",
          "Jarcho-Levin syndrome",
          "SCD",
          "SCDO"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital)."
      },
      "child_count": 12,
      "reference_id": "MONDO:0000359"
    },
    {
      "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": 17976,
      "label": "disorder of fucoglycosan synthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021341",
          "MEDGEN:1843205",
          "Orphanet:309505",
          "UMLS:C5681046"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0017747"
    }
  ],
  "children": [
    {
      "id": 13163,
      "label": "spondylocostal dysostosis 2, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112362",
          "GARD:0009703",
          "MEDGEN:332481",
          "OMIM:608681",
          "UMLS:C1837549"
        ],
        "synonyms": [
          "spondylocostal dysostosis 2, autosomal recessive",
          "SCDO2",
          "spondylocostal dysostosis 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012097"
    },
    {
      "id": 13403,
      "label": "spondylocostal dysostosis 3, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112361",
          "GARD:0004973",
          "MEDGEN:377871",
          "OMIM:609813",
          "UMLS:C1853296"
        ],
        "synonyms": [
          "LFNG autosomal recessive spondylocostal dysostosis",
          "autosomal recessive spondylocostal dysostosis caused by mutation in LFNG",
          "spondylocostal dysostosis 3, autosomal recessive",
          "SCDO3",
          "SCOD3",
          "spondylocostal dysostosis 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012349"
    },
    {
      "id": 14399,
      "label": "spondylocostal dysostosis 4, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112364",
          "GARD:0004976",
          "MEDGEN:462292",
          "OMIM:613686",
          "UMLS:C3150942"
        ],
        "synonyms": [
          "HES7 autosomal recessive spondylocostal dysostosis",
          "Hes7 autosomal recessive spondylocostal dysostosis",
          "autosomal recessive spondylocostal dysostosis caused by mutation in HES7",
          "autosomal recessive spondylocostal dysostosis caused by mutation in Hes7",
          "spondylocostal dysostosis 4, autosomal recessive",
          "SCDO4",
          "spondylocostal dysostosis 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013366"
    },
    {
      "id": 15689,
      "label": "spondylocostal dysostosis 6, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112360",
          "GARD:0012807",
          "MEDGEN:899713",
          "OMIM:616566",
          "UMLS:C4225279"
        ],
        "synonyms": [
          "RIPPLY2 autosomal recessive spondylocostal dysostosis",
          "autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2",
          "spondylocostal dysostosis 6, autosomal recessive",
          "SCDO6",
          "spondylocostal dysostosis 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014694"
    },
    {
      "id": 20100,
      "label": "spondylocostal dysostosis 1, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112365",
          "GARD:0010726",
          "OMIM:277300"
        ],
        "synonyms": [
          "spondylocostal dysostosis 1, autosomal recessive",
          "SCDO1",
          "spondylothoracic dysostosis",
          "spondylothoracic dysplasia",
          "vertebral anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020692"
    }
  ],
  "roots": [
    {
      "id": 2864,
      "label": "spondylocostal dysostosis"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17976,
      "label": "disorder of fucoglycosan synthesis"
    }
  ]
}