{
  "id": 17953,
  "label": "GM2 gangliosidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017720",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 17952,
      "label": "gangliosidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19116
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2368",
          "GARD:0012510",
          "MEDGEN:42149",
          "Orphanet:309144",
          "SCTID:50967008",
          "UMLS:C0017083",
          "icd11.foundation:797306953"
        ],
        "definition": "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017719"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 11201,
      "label": "Sandhoff disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        17953,
        19748,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3323",
          "GARD:0002521",
          "ICD10CM:E75.01",
          "MEDGEN:11313",
          "MESH:D012497",
          "NANDO:1200072",
          "NANDO:2201200",
          "NCIT:C85052",
          "NORD:1688",
          "OMIM:268800",
          "Orphanet:796",
          "SCTID:23849003",
          "UMLS:C0036161",
          "icd11.foundation:708581915"
        ],
        "synonyms": [
          "GM2 gangliosidosis 0 variant",
          "GM2 gangliosidosis, 0 variant",
          "Hexosaminidases A and B deficiency",
          "Sandhoff Jatzkewitz disease",
          "Sandhoff disease",
          "Sandhoff disease, adult form",
          "Sandhoff disease, infantile form",
          "Sandhoff disease, 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"
          }
        ],
        "definition": "A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration."
      },
      "child_count": 12,
      "reference_id": "MONDO:0010006"
    },
    {
      "id": 11286,
      "label": "Tay-Sachs disease AB variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17953
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010099"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 17952,
      "label": "gangliosidosis"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}