{
  "id": 19467,
  "label": "juvenile sialidosis type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019681",
  "properties": {
    "xrefs": [
      "GARD:0019183",
      "MEDGEN:1825999",
      "Orphanet:93399",
      "SCTID:111383007",
      "UMLS:C5681598",
      "icd11.foundation:1730484030"
    ],
    "synonyms": [
      "dysmorphic sialidosis, juvenile form"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10950,
      "label": "sialidosis type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17967,
        22243,
        24806
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3343",
          "GARD:0007183",
          "MEDGEN:924303",
          "MESH:C562606",
          "NANDO:1200118",
          "NANDO:1200120",
          "NANDO:2201192",
          "NANDO:2201193",
          "NCIT:C125596",
          "OMIM:256150",
          "OMIM:256550",
          "Orphanet:87876",
          "SCTID:52186006",
          "SCTID:81896006",
          "UMLS:C4282398",
          "icd11.foundation:1855856697"
        ],
        "synonyms": [
          "sialidosis",
          "NEU1 sialidosis",
          "dysmorphic sialidosis",
          "dysmorphic sialidosis with renal involvement",
          "infantile dysmorphic sialidosis",
          "mucolipidosis I",
          "nephrosialidosis",
          "sialidosis caused by mutation in NEU1",
          "sialidosis type II",
          "sialidosis, type 2",
          "sialidosis, type I",
          "ML 1",
          "ML1",
          "NEU 1 deficiency",
          "Neu deficiency",
          "Neu1 deficiency",
          "Neug deficiency",
          "cherry Red spot--myoclonus syndrome",
          "glycoprotein neuraminidase deficiency",
          "glycoproteinosis",
          "lipomucopolysaccharidosis",
          "mucolipidosis 1",
          "mucolipidosis type 1",
          "myoclonus--cherry Red spot syndrome",
          "neuraminidase 1 deficiency",
          "neuraminidase deficiency",
          "sialidase deficiency",
          "sialidosis, type 1",
          "sialidosis, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009738"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10950,
      "label": "sialidosis type 2"
    }
  ]
}