{
  "id": 11287,
  "label": "Tay-Sachs disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010100",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "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"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        19108,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10742",
          "GARD:0019491",
          "ICD9:330.1",
          "MEDGEN:1825994",
          "Orphanet:98544",
          "SCTID:16517004",
          "UMLS:C5681730"
        ],
        "synonyms": [
          "cerebral lipidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0020143"
    }
  ],
  "children": [
    {
      "id": 17957,
      "label": "Tay-Sachs disease, b variant, infantile form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11287
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021324",
          "MEDGEN:1863558",
          "Orphanet:309178",
          "SCTID:238021002",
          "UMLS:C5925031"
        ],
        "synonyms": [
          "GM2 gangliosidosis, B variant, infantile form",
          "hexosaminidase A deficiency, infantile 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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017724"
    },
    {
      "id": 17958,
      "label": "Tay-Sachs disease, b variant, juvenile form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11287
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017725"
    },
    {
      "id": 17959,
      "label": "Tay-Sachs disease, B variant, adult form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11287
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021326",
          "MEDGEN:336450",
          "Orphanet:309192",
          "SCTID:238023004",
          "UMLS:C1848914"
        ],
        "synonyms": [
          "GM2 gangliosidosis, B variant, adult form",
          "hexosaminidase A deficiency, adult 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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017726"
    },
    {
      "id": 17961,
      "label": "Tay-Sachs disease, B1 variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11287
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021327",
          "MEDGEN:336452",
          "Orphanet:309239",
          "SCTID:238024005",
          "UMLS:C1848916"
        ],
        "synonyms": [
          "GM2 gangliosidosis, B1 variant",
          "hexosaminidase A deficiency, B1 variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017728"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 17953,
      "label": "GM2 gangliosidosis"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia"
    }
  ]
}