{
  "id": 17958,
  "label": "Tay-Sachs disease, b variant, juvenile form",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017725",
  "properties": {
    "xrefs": [
      "GARD:0021325",
      "MEDGEN:1863740",
      "Orphanet:309185",
      "SCTID:238022009",
      "UMLS:C5925030"
    ],
    "synonyms": [
      "GM2 gangliosidosis, B variant, juvenile form",
      "hexosaminidase A deficiency, juvenile form"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11287,
      "label": "Tay-Sachs disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        17953,
        19748,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3320",
          "GARD:0007737",
          "ICD10CM:E75.02",
          "MEDGEN:11713",
          "MESH:D013661",
          "MedDRA:10043147",
          "NANDO:1200071",
          "NANDO:2201199",
          "NCIT:C85184",
          "NORD:1761",
          "OMIM:272800",
          "Orphanet:845",
          "SCTID:111385000",
          "SCTID:49562005",
          "UMLS:C0039373",
          "icd11.foundation:215008783"
        ],
        "synonyms": [
          "GM2 gangliosidosis, B, B1 variant",
          "GM2-gangliosidosis, several forms",
          "Hex A pseudodeficiency",
          "Tay Sachs Disease",
          "Tay-Sachs disease",
          "disease, Tay-Sachs",
          "hexosaminidase A deficiency",
          "B variant GM2 gangliosidosis",
          "B variant GM2-gangliosidosis",
          "GM2 gangliosidosis, type 1",
          "GM2-gangliosidosis, adult chronic type",
          "GM2-gangliosidosis, type 1",
          "GM2-gangliosidosis, variant B1",
          "TAY-Sachs disease",
          "TSD",
          "Tay-Sachs disease, juvenile",
          "Tay-Sachs disease, pseudo-Ab variant",
          "Tay-Sachs disease, variant B1",
          "gangliosidosis GM2, type 1",
          "hexa deficiency",
          "hexosaminidase a deficiency",
          "hexosaminidase a deficiency, adult type",
          "hexosaminidase alpha-subunit deficiency (variant B)",
          "sphingolipidosis, Tay-Sachs"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency."
      },
      "child_count": 16,
      "reference_id": "MONDO:0010100"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11287,
      "label": "Tay-Sachs disease"
    }
  ]
}