{
  "id": 11174,
  "label": "reticular dysgenesis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009973",
  "properties": {
    "xrefs": [
      "DOID:0060020",
      "GARD:0008625",
      "MEDGEN:124417",
      "MESH:C538361",
      "NANDO:1200322",
      "NANDO:2200695",
      "NCIT:C27070",
      "OMIM:267500",
      "Orphanet:33355",
      "SCTID:111584000",
      "UMLS:C0272167"
    ],
    "synonyms": [
      "AK2 deficiency",
      "De Vaal disease",
      "SCID with leukopenia",
      "congenital aleukocytosis",
      "generalised haematopoietic hypoplasia",
      "generalized hematopoietic hypoplasia",
      "reticular dysgenesis",
      "severe combined immunodeficiency with leukopenia",
      "DeVaal disease",
      "RD",
      "congenital Aleukia",
      "haematopoietic hypoplasia, generalised",
      "hematopoietic hypoplasia, generalized",
      "reticular Dysgenesia"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    },
    {
      "id": 22249,
      "label": "familial severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027938",
          "OMIMPS:601457"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0031520"
    }
  ],
  "children": [
    {
      "id": 10683,
      "label": "Immunoerythromyeloid hypoplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11174
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024672",
          "OMIM:242880"
        ],
        "synonyms": [
          "Immunoerythromyeloid hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009456"
    }
  ],
  "roots": [
    {
      "id": 18070,
      "label": "T-B- severe combined immunodeficiency"
    },
    {
      "id": 22249,
      "label": "familial severe combined immunodeficiency"
    }
  ]
}