{
  "id": 11201,
  "label": "Sandhoff disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010006",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 17954,
      "label": "Sandhoff disease, infantile form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007604",
          "MEDGEN:199669",
          "Orphanet:309155",
          "SCTID:238018004",
          "UMLS:C0751490"
        ],
        "synonyms": [
          "Hexosaminidases A and B deficiency, infantile form",
          "infantile GM2 gangliosidosis 0 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:0017721"
    },
    {
      "id": 17955,
      "label": "Sandhoff disease, juvenile form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017404",
          "MEDGEN:148320",
          "Orphanet:309162",
          "SCTID:238019007",
          "UMLS:C0751491"
        ],
        "synonyms": [
          "Hexosaminidases A and B deficiency, juvenile form",
          "juvenile GM2 gangliosidosis 0 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:0017722"
    },
    {
      "id": 17956,
      "label": "Sandhoff disease, adult form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11201
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017405",
          "MEDGEN:148319",
          "Orphanet:309169",
          "SCTID:238020001",
          "UMLS:C0751489"
        ],
        "synonyms": [
          "Hexosaminidases A and B deficiency, adult form",
          "Sandhoff disease of adults",
          "adult GM2 gangliosidosis 0 variant",
          "adult Sandhoff disease"
        ],
        "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 Sandhoff disease that occurs in an adult."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017723"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 17953,
      "label": "GM2 gangliosidosis"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia"
    }
  ]
}