{
  "id": 14053,
  "label": "spondyloepimetaphyseal dysplasia, aggrecan type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013014",
  "properties": {
    "xrefs": [
      "GARD:0010513",
      "MEDGEN:411237",
      "MESH:C567558",
      "OMIM:612813",
      "Orphanet:171866",
      "SCTID:719165004",
      "UMLS:C2748544",
      "icd11.foundation:1133152894"
    ],
    "synonyms": [
      "SEMD, aggrecan type",
      "spondyloepimetaphyseal dysplasia, aggrecan type",
      "SEMDAG"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080027",
          "GARD:0026258",
          "MEDGEN:609408",
          "SCTID:254062008",
          "UMLS:C0432211"
        ],
        "synonyms": [
          "SEMD",
          "spondylo-epi-(meta)-physeal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis."
      },
      "child_count": 23,
      "reference_id": "MONDO:0100510"
    },
    {
      "id": 29322,
      "label": "ACAN-related short stature spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare semidominant genetic skeletal disorder caused by a variation in ACAN gene, characterized by short stature with variable phenotypic features which may include osteochondritis dissecans, advanced bone age, early-onset arthritis, and/or features consistent with spondyloepiphyseal dysplasia, Kimberley type caused by a single allele whereas biallelic variation can cause spondyloepimetaphyseal dysplasia, aggrecan type."
      },
      "child_count": 6,
      "reference_id": "MONDO:1060149"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia"
    },
    {
      "id": 29322,
      "label": "ACAN-related short stature spectrum"
    }
  ]
}