{
  "id": 23376,
  "label": "familial monosomy 7 syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044645",
  "properties": {
    "xrefs": [
      "GARD:0020827",
      "MEDGEN:1826116",
      "OMIMPS:252270",
      "Orphanet:495930",
      "UMLS:C5681220"
    ],
    "synonyms": [
      "monosomy 7 myelodysplasia and leukaemia syndrome",
      "monosomy 7 myelodysplasia and leukemia syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18812,
      "label": "myelodysplastic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16513,
        20301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050908",
          "EFO:0000198",
          "GARD:0007132",
          "ICD10CM:D46",
          "ICD9:238.7",
          "ICD9:238.75",
          "ICDO:9989/3",
          "MEDGEN:483005",
          "MedDRA:10028532",
          "NANDO:2100003",
          "NANDO:2200019",
          "NCIT:C3247",
          "NORD:1480",
          "OMIM:614286",
          "ONCOTREE:MDS",
          "Orphanet:52688",
          "SCTID:109995007",
          "UMLS:C3463824"
        ],
        "synonyms": [
          "MDS",
          "MDS, unclassifiable",
          "MDS-U",
          "Myelodysplastic Syndromes",
          "dysmyelopoietic syndrome",
          "hematopoeitic - myelodysplastic syndrome (MDS)",
          "myelodysplasia",
          "myelodysplastic neoplasm",
          "myelodysplastic syndrome",
          "myelodysplastic syndrome, somatic",
          "myelodysplastic syndrome, unclassifiable",
          "myelodysplastic syndrome/neoplasm",
          "myelodysplastic syndromes",
          "oligoblastic leukaemia",
          "oligoblastic leukemia",
          "preleukemia",
          "smoldering leukemia",
          "smouldering leukaemia",
          "myelodysplastic syndrome, susceptibility to"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)"
      },
      "child_count": 16,
      "reference_id": "MONDO:0018881"
    }
  ],
  "children": [
    {
      "id": 10862,
      "label": "monosomy 7 myelodysplasia and leukemia syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23376
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018505",
          "MEDGEN:381529",
          "MESH:C565370",
          "NCIT:C176908",
          "OMIM:252270",
          "UMLS:C1854978"
        ],
        "synonyms": [
          "M7MLS1",
          "chromosome 7Q deletion",
          "monosomy 7 of bone marrow",
          "myelodysplasia and leukaemia syndrome with monosomy 7",
          "myelodysplasia and leukemia syndrome with monosomy 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009646"
    },
    {
      "id": 22049,
      "label": "monosomy 7 myelodysplasia and leukemia syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23376
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018506",
          "MEDGEN:1762901",
          "OMIM:619041",
          "UMLS:C5436668"
        ],
        "synonyms": [
          "M7MLS2",
          "monosomy 7 myelodysplasia and leukemia syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030801"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18812,
      "label": "myelodysplastic syndrome"
    }
  ]
}