{
  "id": 9628,
  "label": "pseudoachondroplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008322",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "id": 24316,
      "label": "COMP-related skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100593"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 24316,
      "label": "COMP-related skeletal dysplasia"
    }
  ]
}