{
  "id": 24316,
  "label": "COMP-related skeletal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100593",
  "properties": {
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any skeletal disorder in which the cause of the disease is a variant in the COMP gene. This includes pseudoachondroplasia and multiple epiphyseal dysplasia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 8941,
      "label": "multiple epiphyseal dysplasia type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117,
        24316
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070303",
          "GARD:0002180",
          "MEDGEN:325376",
          "OMIM:132400",
          "Orphanet:93308",
          "SCTID:715673002",
          "UMLS:C1838280",
          "icd11.foundation:2130489957"
        ],
        "synonyms": [
          "COMP multiple epiphyseal dysplasia (disease)",
          "EDM1",
          "MED1",
          "Polyepiphyseal dysplasia type 1",
          "epiphyseal dysplasia, multiple, type 1",
          "multiple epiphyseal dysplasia (disease) caused by mutation in COMP",
          "epiphyseal dysplasia multiple 1",
          "epiphyseal dysplasia, Fairbank type",
          "epiphyseal dysplasia, multiple, 1",
          "epiphyseal dysplasia, ribbing type",
          "multiple epiphyseal dysplasia 1",
          "multiple epiphyseal dysplasia COMP-related",
          "multiple epiphyseal dysplasia, Comp-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007561"
    },
    {
      "id": 9628,
      "label": "pseudoachondroplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7171,
        24316
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080047",
          "GARD:0004540",
          "ICD9:756.9",
          "MEDGEN:98378",
          "MESH:C535819",
          "NANDO:2201018",
          "NCIT:C118635",
          "NORD:1625",
          "OMIM:177170",
          "Orphanet:750",
          "SCTID:22567005",
          "UMLS:C0410538",
          "icd11.foundation:1192649257"
        ],
        "synonyms": [
          "Pseudoachondroplastic dysplasia",
          "Pseudoachondroplastic spondyloepiphyseal dysplasia",
          "pseudoachondroplasia",
          "pseudoachondroplastic dysplasia",
          "spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC",
          "PSACH",
          "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome",
          "spondyloepiphyseal dysplasia, Pseudoachondroplastic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008322"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}