{
  "id": 10843,
  "label": "Nijmegen breakage syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009623",
  "properties": {
    "xrefs": [
      "DOID:7400",
      "GARD:0003904",
      "MEDGEN:140771",
      "MESH:D049932",
      "MedDRA:10067857",
      "NANDO:1200332",
      "NANDO:2200706",
      "NCIT:C4692",
      "OMIM:251260",
      "Orphanet:647",
      "SCTID:234638009",
      "UMLS:C0398791",
      "icd11.foundation:1925662580"
    ],
    "synonyms": [
      "AT V1",
      "Berlin breakage syndrome",
      "NBS",
      "NBs",
      "Nijmegen breakage syndrome",
      "Seemanova syndrome",
      "Seemanova syndrome type 2",
      "ataxia-telangiectasia, variant 1",
      "immunodeficiency-microcephaly-chromosomal instability syndrome",
      "Nonsyndromal microcephaly autosomal recessive with normal intelligence",
      "Nonsyndromal microcephaly, autosomal recessive, with normal intelligence",
      "Seemanova syndrome 2",
      "ataxia-telangiectasia variant V1",
      "ataxia-telangiectasia variant V2",
      "immunodeficiency, microcephaly, and chromosomal instability",
      "microcephaly immunodeficiency lymphoreticuloma",
      "microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies",
      "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies"
    ],
    "definition": "Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 20416,
      "label": "DNA repair disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0008499",
          "GARD:0025299",
          "MEDGEN:82774",
          "MESH:D049914",
          "NCIT:C7757",
          "UMLS:C0268134"
        ],
        "synonyms": [
          "DNA repair disorder",
          "deficiency of DNA repair",
          "disorder of DNA repair",
          "DNA Repairs, deficient",
          "DNA repair deficiency",
          "DNA repair deficiency disorders",
          "DNA repair, deficient",
          "DNA repair-deficiencies",
          "DNA repair-deficiency",
          "DNA repair-deficiency disorder",
          "Repairs, deficient DNA",
          "chromosome instability syndrome",
          "chromosome instability syndromes",
          "deficient DNA Repairs",
          "deficient DNA repair",
          "disorder, DNA repair-deficiency",
          "disorders, DNA repair-deficiency",
          "repair, deficient DNA",
          "syndrome, chromosome instability",
          "syndromes, chromosome instability"
        ],
        "definition": "A disease that has its basis in the disruption of DNA repair."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021190"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 20416,
      "label": "DNA repair disease"
    }
  ]
}