{
  "id": 19753,
  "label": "cerebral lipidosis with dementia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020143",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 7209,
      "label": "brain disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:936",
          "EFO:0005774",
          "ICD9:348.3",
          "ICD9:348.30",
          "ICD9:348.8",
          "ICD9:348.9",
          "MEDGEN:14214",
          "MESH:D001927",
          "NCIT:C96413",
          "SCTID:81308009",
          "UMLS:C0006111"
        ],
        "synonyms": [
          "brain disease",
          "brain disease or disorder",
          "disease of brain",
          "disease or disorder of brain",
          "disorder of brain",
          "encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease affecting the brain or part of the brain."
      },
      "child_count": 71,
      "reference_id": "MONDO:0005560"
    },
    {
      "id": 19108,
      "label": "lysosomal lipid storage disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        4625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9455",
          "GARD:0012511",
          "ICD9:272.7",
          "ICD9:272.8",
          "MEDGEN:9780",
          "MESH:D008064",
          "Orphanet:79204",
          "SCTID:10741005",
          "UMLS:C0023794"
        ],
        "synonyms": [
          "inborn error of lipid storage",
          "lipid storage disease",
          "lipoid storage disease",
          "lipoid storage disorder",
          "rare inborn error of lipid storage",
          "lipidoses",
          "lipidosis",
          "lipoidoses",
          "lipoidosis"
        ],
        "definition": "An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes."
      },
      "child_count": 14,
      "reference_id": "MONDO:0019245"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 10208,
      "label": "cerebrotendinous xanthomatosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4666,
        7019,
        16607,
        18952,
        19085,
        19144,
        19712,
        19748,
        19753,
        23512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4810",
          "GARD:0005622",
          "MEDGEN:116041",
          "MESH:D019294",
          "NANDO:1200856",
          "NCIT:C84628",
          "NORD:915",
          "OMIM:213700",
          "Orphanet:909",
          "SCTID:63246000",
          "UMLS:C0238052",
          "icd11.foundation:1556875179"
        ],
        "synonyms": [
          "CTX",
          "CTx",
          "cerebrotendinous xanthomatosis",
          "cholestanol storage disease",
          "sterol 27-hydroxylase deficiency",
          "cerebral cholesterinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008948"
    },
    {
      "id": 10506,
      "label": "Gaucher disease type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880,
        18295,
        18454,
        18462,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110957",
          "GARD:0002441",
          "MEDGEN:409531",
          "NANDO:1200057",
          "NANDO:2201210",
          "OMIM:230800",
          "Orphanet:77259",
          "SCTID:62201009",
          "UMLS:C1961835"
        ],
        "synonyms": [
          "Gaucher disease type I",
          "Gaucher disease, noncerebral juvenile",
          "Gaucher's disease type I",
          "Gba deficiency",
          "acid Beta-glucosidase deficiency",
          "non-cerebral juvenile Gaucher disease",
          "Gaucher disease type 1",
          "Gaucher disease, type 1",
          "Gaucher disease, type I",
          "Gd 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009265"
    },
    {
      "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": 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"
    },
    {
      "id": 16718,
      "label": "adult Krabbe disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10724,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020345",
          "MEDGEN:120623",
          "NANDO:1200077",
          "NANDO:2201219",
          "Orphanet:206448",
          "UMLS:C0268252",
          "icd11.foundation:699668826"
        ],
        "synonyms": [
          "Krabbe disease of adults"
        ],
        "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 Krabbe disease that occurs in an adult."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016091"
    },
    {
      "id": 19121,
      "label": "adult neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010973",
          "MEDGEN:7230",
          "NANDO:1200155",
          "NANDO:2201244",
          "NORD:1341",
          "Orphanet:79262",
          "SCTID:62009002",
          "UMLS:C0022797",
          "icd11.foundation:1460031344"
        ],
        "synonyms": [
          "ANCL",
          "Kufs disease",
          "adult NCL",
          "adult neuronal ceroid lipofuscinosis",
          "neuronal ceroid lipofuscinosis of adults",
          "CLN4 disease, adult autosomal dominant",
          "Kuf's disease",
          "neuronal ceroid lipofuscinosis 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019260"
    },
    {
      "id": 19122,
      "label": "infantile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009447",
          "MEDGEN:75666",
          "NANDO:1200152",
          "NANDO:2201241",
          "NORD:1689",
          "Orphanet:79263",
          "SCTID:58258004",
          "UMLS:C0268281",
          "icd11.foundation:797123687"
        ],
        "synonyms": [
          "Classic Infantile CLN1 Disease",
          "Hagberg-Santavuori disease",
          "INCL",
          "Santavuori disease",
          "Santavuori-Haltia disease",
          "infantile NCL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019261"
    },
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050756",
          "GARD:0004938",
          "MedDRA:10052073",
          "NANDO:1200154",
          "NANDO:2201243",
          "Orphanet:79264",
          "SCTID:61663001",
          "icd11.foundation:1716107919"
        ],
        "synonyms": [
          "JNCL",
          "Spielmeyer-Vogt disease",
          "batten disease",
          "juvenile NCL",
          "juvenile neuronal ceroid lipofuscinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019262"
    }
  ],
  "roots": [
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 19108,
      "label": "lysosomal lipid storage disorder"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}