{
  "id": 23294,
  "label": "Shwachman-Diamond syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044205",
  "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)."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11037,
      "label": "Shwachman-Diamond syndrome"
    }
  ]
}