{
  "id": 23293,
  "label": "Shwachman-Diamond syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044204",
  "properties": {
    "xrefs": [
      "GARD:0015221",
      "MEDGEN:1640046",
      "OMIM:260400",
      "UMLS:C4692625"
    ],
    "synonyms": [
      "SBDS-related Shwachman Diamond syndrome",
      "Shwachman-Diamond syndrome 1",
      "SDS1",
      "Shwachman-Bodian syndrome",
      "Shwachman-Diamond syndrome",
      "lipomatosis of pancreas, congenital",
      "pancreatic insufficiency and bone marrow dysfunction"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11037,
      "label": "Shwachman-Diamond syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060479",
          "DOID:0080023",
          "GARD:0004863",
          "MEDGEN:124418",
          "MESH:C537330",
          "MedDRA:10067940",
          "NANDO:1200356",
          "NANDO:2200756",
          "NCIT:C61235",
          "NORD:1711",
          "OMIMPS:260400",
          "Orphanet:811",
          "SCTID:89454001",
          "UMLS:C0272170",
          "icd11.foundation:232885463"
        ],
        "synonyms": [
          "SDS",
          "Schwachman-Diamond syndrome",
          "Schwachmann-Diamond syndrome",
          "Shwachman Diamond Syndrome",
          "Shwachman syndrome",
          "Shwachman-Bodian-Diamond syndrome",
          "Shwachman-Diamond syndrome",
          "pancreatic insufficiency and bone marrow dysfunction",
          "Shwachman-Bodian syndrome",
          "Shwachman-Diamond type metaphyseal dysplasia",
          "congenital lipomatosis of pancreas",
          "lipomatosis of pancreas, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009833"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:279.3",
          "MEDGEN:7034",
          "NANDO:2100204",
          "NCIT:C3131",
          "OMIMPS:300755",
          "SCTID:234532001",
          "UMLS:C0021051"
        ],
        "synonyms": [
          "immuno-deficiency",
          "immunodeficiency",
          "immunodeficiency disorder",
          "immunodeficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021094"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11037,
      "label": "Shwachman-Diamond syndrome"
    },
    {
      "id": 20334,
      "label": "immunodeficiency disease"
    }
  ]
}