{
  "id": 10867,
  "label": "GNPTG-mucolipidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009652",
  "properties": {
    "xrefs": [
      "DOID:0080678",
      "GARD:0017705",
      "MEDGEN:340743",
      "MESH:C565367",
      "NCIT:C129978",
      "OMIM:252605",
      "Orphanet:423470",
      "UMLS:C1854896"
    ],
    "synonyms": [
      "GNPTG-mucolipidosis",
      "ML 3 gamma",
      "ML III gamma",
      "mucolipidosis type 3 gamma",
      "mucolipidosis type III gamma",
      "ML 3C",
      "mucolipidosis 3 gamma",
      "mucolipidosis 3C",
      "mucolipidosis III gamma",
      "mucolipidosis III, Iranian variant form",
      "mucolipidosis III, complementation group C",
      "mucolipidosis III, variant form"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 22243,
      "label": "familial mucolipidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}