{
  "id": 20951,
  "label": "chondrodysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0022723",
  "properties": {
    "xrefs": [
      "MEDGEN:91012",
      "SCTID:205465004",
      "UMLS:C0343284"
    ],
    "synonyms": [
      "chondrodysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 16271,
      "label": "lethal recessive chondrodysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        20951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003399",
          "MEDGEN:930414",
          "Orphanet:1423",
          "SCTID:719404009",
          "UMLS:C4304745",
          "icd11.foundation:550352998"
        ],
        "synonyms": [
          "Maroteaux-Stanescu-Cousin syndrome",
          "chondrodysplasia lethal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015425"
    },
    {
      "id": 20952,
      "label": "chondrodysplasia punctata with steroid sulfatase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20951
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0022729"
    },
    {
      "id": 21218,
      "label": "chondrodysplasia situs inversus imperforate anus polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20951
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "impossible syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023472"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}