{
  "id": 10501,
  "label": "GM1 gangliosidosis type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009260",
  "properties": {
    "xrefs": [
      "DOID:0080502",
      "GARD:0006479",
      "MEDGEN:75665",
      "NANDO:1200067",
      "NANDO:2201196",
      "OMIM:230500",
      "Orphanet:79255",
      "SCTID:238026007",
      "UMLS:C0268271",
      "icd11.foundation:466200180"
    ],
    "synonyms": [
      "Norman-Landing disease",
      "infantile GM1 gangliosidosis",
      "Beta galactosidase deficiency type 1",
      "Beta-galactosidase-1 deficiency",
      "GLB deficiency type 1",
      "GM1-gangliosidosis, type 1",
      "GM1-gangliosidosis, type I",
      "GM1-gangliosidosis, type I, with Cardiac involvement",
      "Glb1 deficiency",
      "gangliosidosis generalised GM1 infantile form",
      "gangliosidosis generalised GM1 type 1",
      "gangliosidosis generalized GM1 infantile form",
      "gangliosidosis generalized GM1 type 1",
      "gangliosidosis, generalised GM1, infantile form",
      "gangliosidosis, generalised GM1, type 1",
      "gangliosidosis, generalised GM1, type I, with Cardiac involvement",
      "gangliosidosis, generalized GM1, infantile form",
      "gangliosidosis, generalized GM1, type 1",
      "gangliosidosis, generalized GM1, type I, with Cardiac involvement"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 18294,
      "label": "GM1 gangliosidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        7061,
        17952
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3322",
          "GARD:0010891",
          "ICD9:277.6",
          "MEDGEN:43107",
          "MESH:D016537",
          "NANDO:1200066",
          "NANDO:2200558",
          "NCIT:C84739",
          "Orphanet:354",
          "SCTID:124465002",
          "SCTID:238025006",
          "UMLS:C0085131",
          "icd11.foundation:401105928"
        ],
        "synonyms": [
          "Beta-galactosidase-1 deficiency",
          "GLB1 deficiency",
          "GM>1< gangliosidosis",
          "Landing disease",
          "Landing syndrome",
          "gangliosidosis GM1",
          "Beta galactosidase 1 deficiency",
          "Beta-galactosidosis",
          "GLB 1 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features."
      },
      "child_count": 9,
      "reference_id": "MONDO:0018149"
    },
    {
      "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": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 18294,
      "label": "GM1 gangliosidosis"
    },
    {
      "id": 24806,
      "label": "lysosomal storage disease with skeletal involvement"
    }
  ]
}