{
  "id": 9977,
  "label": "short-limb skeletal dysplasia with severe combined immunodeficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008704",
  "properties": {
    "xrefs": [
      "GARD:0002988",
      "MEDGEN:348040",
      "MESH:C565984",
      "OMIM:200900",
      "Orphanet:935",
      "UMLS:C1860168",
      "icd11.foundation:469016488"
    ],
    "synonyms": [
      "achondroplasia-SCID syndrome",
      "achondroplasia-Swiss type agammaglobulinemia syndrome",
      "achondroplasia-severe combined immunodeficiency syndrome",
      "immunodeficiency-short limb dwarfism syndrome",
      "short limb skeletal dysplasia with SCID",
      "short-limb skeletal dysplasia with severe combined immunodeficiency",
      "SLSD with SCID",
      "Slsd with SCID",
      "achondroplasia and Swiss type agammaglobulinemia",
      "achondroplasia and Swiss-type agammaglobulinemia",
      "achondroplasia and severe combined immunodeficiency",
      "achondroplasia so-called and severe combined immunodeficiency",
      "achondroplasia, so-called, and severe combined immunodeficiency",
      "agammaglobulinemia and achondroplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18070,
      "label": "T-B- severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021406",
          "MEDGEN:1842252",
          "Orphanet:317419",
          "UMLS:C5679893"
        ],
        "synonyms": [
          "T-B- SCID"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017855"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18070,
      "label": "T-B- severe combined immunodeficiency"
    }
  ]
}