{
  "id": 10866,
  "label": "mucolipidosis type II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009650",
  "properties": {
    "xrefs": [
      "DOID:0080070",
      "GARD:0006749",
      "MEDGEN:435914",
      "MESH:C538602",
      "NANDO:1200124",
      "NANDO:2200567",
      "NCIT:C61270",
      "NORD:1279",
      "OMIM:252500",
      "Orphanet:576",
      "SCTID:70199000",
      "UMLS:C2673377"
    ],
    "synonyms": [
      "I Cell Disease",
      "I-cell disease",
      "N-acetylglucosamine 1-phosphotransferase deficiency",
      "mucolipidosis type II",
      "mucolipidosis type II alpha/beta",
      "GNPTA",
      "I cell disease",
      "Leroy disease",
      "ML 2",
      "ML 2 Alpha/Beta",
      "ML disorder type 2",
      "N-acetylglucosamine 1phosphotransferase deficiency",
      "inclusion cell disease",
      "mucolipidosis 2",
      "mucolipidosis 2 alpha/beta",
      "mucolipidosis II alpha/beta"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23871,
      "label": "GNPTAB-mucolipidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19110
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026054"
        ],
        "synonyms": [
          "GNPTAB-related disorder",
          "UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency"
        ],
        "definition": "An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100122"
    },
    {
      "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": 23871,
      "label": "GNPTAB-mucolipidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}