{
  "id": 29322,
  "label": "ACAN-related short stature spectrum",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060149",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 7061,
      "label": "bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6893
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080001",
          "EFO:0004260",
          "ICD10CM:M80-M85",
          "ICD9:731.8",
          "ICD9:733.99",
          "MEDGEN:14182",
          "MESH:D001847",
          "NANDO:2100291",
          "NANDO:2100293",
          "SCTID:76069003",
          "UMLS:C0005940"
        ],
        "synonyms": [
          "bone element disease",
          "bone element disease or disorder",
          "disease of bone element",
          "disease or disorder of bone element",
          "disorder of bone element",
          "rare bone disease related to a common gene or pathway defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Diseases of bones."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005381"
    }
  ],
  "children": [
    {
      "id": 13088,
      "label": "spondyloepiphyseal dysplasia, Kimberley type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206,
        29322
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112282",
          "GARD:0016814",
          "MEDGEN:330777",
          "MESH:C564252",
          "OMIM:608361",
          "Orphanet:93283",
          "SCTID:719203001",
          "UMLS:C1842149",
          "icd11.foundation:485470320"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia, Kimberley type",
          "SEDK",
          "Sedk"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012019"
    },
    {
      "id": 14053,
      "label": "spondyloepimetaphyseal dysplasia, aggrecan type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235,
        29322
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013014"
    },
    {
      "id": 24188,
      "label": "short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18462,
        29322
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004133",
          "MEDGEN:777109",
          "OMIM:165800",
          "Orphanet:251262",
          "UMLS:C3665488"
        ],
        "synonyms": [
          "OD",
          "SSOAOD",
          "osteochondritis dissecans and short stature",
          "osteochondritis dissecans, short stature, and early-onset osteoarthritis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100462"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 7061,
      "label": "bone disorder"
    }
  ]
}