{
  "id": 11221,
  "label": "free sialic acid storage disease, infantile form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010027",
  "properties": {
    "xrefs": [
      "GARD:0000175",
      "MEDGEN:203367",
      "MedDRA:10067532",
      "NANDO:1200147",
      "NANDO:2201237",
      "OMIM:269920",
      "Orphanet:309324",
      "SCTID:34566007",
      "UMLS:C1096902"
    ],
    "synonyms": [
      "ISSD",
      "sialic acid storage disorder, infantile",
      "N-acetylneuraminic acid storage disease",
      "Nana storage disease",
      "infantile free sialic acid storage disease",
      "infantile sialic acid storage disease",
      "infantile sialic acid storage disorder",
      "sialuria, infantile form"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021313",
          "MEDGEN:1842168",
          "Orphanet:309001",
          "UMLS:C5681069",
          "icd11.foundation:1315315105"
        ],
        "synonyms": [
          "disorder of carbohydrate absorption and transport"
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0017706"
    },
    {
      "id": 19200,
      "label": "free sialic acid storage disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19109
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010870",
          "MEDGEN:419512",
          "MESH:C538523",
          "MedDRA:10067529",
          "MedDRA:10067531",
          "NANDO:1200146",
          "NANDO:2200572",
          "Orphanet:834",
          "SCTID:278991002",
          "UMLS:C2931872",
          "icd11.foundation:1817428569"
        ],
        "synonyms": [
          "free sialic acid storage disease"
        ],
        "definition": "Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD)."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019366"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019203",
          "ICD9:756.9",
          "Orphanet:93448",
          "SCTID:254069004",
          "SCTID:279081001"
        ],
        "synonyms": [
          "dysostosis multiplex"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 25,
      "reference_id": "MONDO:0800088"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption"
    },
    {
      "id": 19200,
      "label": "free sialic acid storage disease"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}