{
  "id": 10141,
  "label": "Bloom syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008876",
  "properties": {
    "xrefs": [
      "DOID:2717",
      "GARD:0000915",
      "ICD10CM:Q82.2",
      "ICD9:757.39",
      "MEDGEN:2685",
      "MESH:D001816",
      "NANDO:1200333",
      "NANDO:2200707",
      "NCIT:C2903",
      "NORD:863",
      "OMIM:210900",
      "Orphanet:125",
      "SCTID:4434006",
      "UMLS:C0005859",
      "icd11.foundation:1838213890"
    ],
    "synonyms": [
      "BSyn",
      "Bloom syndrome",
      "Bloom-Torre-Machacek syndrome",
      "congenital telangiectatic erythema syndrome",
      "BLM",
      "BLS",
      "BS",
      "MGRISCE1",
      "congenital telangiectatic erythema",
      "growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability",
      "microcephaly, growth restriction, and increased sister chromatid exchange 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 7217,
      "label": "hematologic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:74",
          "EFO:0005803",
          "GTR:AN1320635",
          "ICD10CM:D50-D89",
          "ICD9:280-289",
          "ICD9:289.8",
          "ICD9:289.9",
          "MEDGEN:5483",
          "MESH:D006402",
          "NANDO:1100006",
          "NANDO:2100175",
          "NCIT:C26323",
          "Orphanet:97992",
          "SCTID:414022008",
          "UMLS:C0018939"
        ],
        "synonyms": [
          "blood disease",
          "blood disorder",
          "disease of hematopoietic system",
          "disease of the blood and blood-forming organs",
          "disease or disorder of haematopoietic system",
          "disease or disorder of hematopoietic system",
          "disorder of haematopoietic system",
          "disorder of hematopoietic system",
          "haematological disease",
          "haematological disorder",
          "haematological system disease",
          "haematopoietic disease",
          "haematopoietic system disease or disorder",
          "hematologic and lymphocytic disorder",
          "hematologic disorder",
          "hematological disease",
          "hematological disorder",
          "hematological system disease",
          "hematopoietic disease",
          "hematopoietic system disease",
          "hematopoietic system disease or disorder",
          "rare hematologic disease",
          "haematological disorders and malignancies",
          "hematological disorders and malignancies"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A disease involving the hematopoietic system."
      },
      "child_count": 27,
      "reference_id": "MONDO:0005570"
    },
    {
      "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": 16625,
      "label": "hereditary photodermatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020277",
          "MEDGEN:1842494",
          "Orphanet:183490",
          "UMLS:C5679594"
        ],
        "synonyms": [
          "photogenodermatosis",
          "photogénodermatose",
          "genetic photosensitivity",
          "genetic skin photosensitivity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015951"
    },
    {
      "id": 18950,
      "label": "chromosomal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080014",
          "ICD10CM:Q90-Q99",
          "ICD9:758.89",
          "MEDGEN:3441",
          "MESH:D025063",
          "NANDO:1100014",
          "NANDO:2100279",
          "NANDO:2100280",
          "NCIT:C34470",
          "Orphanet:68335",
          "SCTID:409709004",
          "UMLS:C0008626"
        ],
        "synonyms": [
          "chromosomal disease",
          "chromosomal disorder",
          "chromosomal disorders",
          "chromosome disorder",
          "disorder, chromosomal",
          "disorder, chromosome",
          "disorders, chromosomal",
          "disorders, chromosome",
          "autosomal chromosome disorder",
          "autosomal chromosome disorders",
          "chromosome abnormality disorder",
          "chromosome abnormality disorders",
          "chromosome disorder, autosomal",
          "chromosome disorders, autosomal",
          "disorder, chromosome abnormality"
        ],
        "definition": "Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)"
      },
      "child_count": 18,
      "reference_id": "MONDO:0019040"
    },
    {
      "id": 20044,
      "label": "microcephaly, growth restriction and increased sister chromatid exchange",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025188",
          "OMIMPS:210900"
        ],
        "synonyms": [
          "MGRISCE"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0020629"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7217,
      "label": "hematologic disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16625,
      "label": "hereditary photodermatosis"
    },
    {
      "id": 18950,
      "label": "chromosomal disorder"
    },
    {
      "id": 20044,
      "label": "microcephaly, growth restriction and increased sister chromatid exchange"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}