{
  "id": 11286,
  "label": "Tay-Sachs disease AB variant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010099",
  "properties": {
    "xrefs": [
      "DOID:4795",
      "GARD:0017406",
      "MEDGEN:78657",
      "MESH:D049290",
      "NANDO:1200073",
      "NANDO:2201201",
      "NCIT:C133084",
      "OMIM:272750",
      "Orphanet:309246",
      "SCTID:71253000",
      "UMLS:C0268275"
    ],
    "synonyms": [
      "hexosaminidase activator deficiency",
      "Ab variant GM2-gangliosidosis",
      "GM2 activator deficiency",
      "GM2 gangliosidosis, AB variant",
      "GM2-gangliosidosis, AB variant",
      "Tay-Sachs disease, AB variant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17953,
      "label": "GM2 gangliosidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17952,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3321",
          "GARD:0021323",
          "ICD10CM:E75.0",
          "MEDGEN:78656",
          "MESH:D020143",
          "NANDO:1200070",
          "NANDO:2200559",
          "Orphanet:309152",
          "SCTID:33316007",
          "UMLS:C0268274",
          "icd11.foundation:1513691830"
        ],
        "synonyms": [
          "GM>2< gangliosidosis",
          "gangliosidosis GM2",
          "GM2-gangliosidosis, B, B1, AB variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017720"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17953,
      "label": "GM2 gangliosidosis"
    }
  ]
}