{
  "id": 11037,
  "label": "Shwachman-Diamond syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009833",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 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"
    }
  ],
  "children": [
    {
      "id": 23293,
      "label": "Shwachman-Diamond syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11037,
        20334
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044204"
    },
    {
      "id": 23294,
      "label": "Shwachman-Diamond syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11037
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016272",
          "MEDGEN:1634617",
          "OMIM:617941",
          "UMLS:C4693704"
        ],
        "synonyms": [
          "Shwachman-Diamond syndrome 2",
          "SDS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044205"
    },
    {
      "id": 24700,
      "label": "DNAJC21-related Shwachman Diamond syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11037,
        20334
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028013"
        ],
        "synonyms": [
          "DNAJC21-related Shwachman Diamond syndrome"
        ],
        "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 DNAJC21 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700311"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}