{
  "id": 10950,
  "label": "sialidosis type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009738",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17967,
      "label": "sialidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19113
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021331",
          "MEDGEN:120621",
          "MedDRA:10058800",
          "NANDO:1200116",
          "NANDO:2200556",
          "NORD:1713",
          "Orphanet:309294",
          "SCTID:38795005",
          "UMLS:C0268226",
          "icd11.foundation:1180347697"
        ],
        "definition": "Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017734"
    },
    {
      "id": 22243,
      "label": "familial mucolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025699",
          "OMIMPS:256550"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0031422"
    },
    {
      "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": [
    {
      "id": 19467,
      "label": "juvenile sialidosis type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10950
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019681"
    },
    {
      "id": 19468,
      "label": "congenital sialidosis type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019184",
          "MEDGEN:1843300",
          "Orphanet:93400",
          "SCTID:27642008",
          "UMLS:C5681599",
          "icd11.foundation:1994237121"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019682"
    }
  ],
  "roots": [
    {
      "id": 17967,
      "label": "sialidosis"
    },
    {
      "id": 22243,
      "label": "familial mucolipidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}