{
  "id": 10208,
  "label": "cerebrotendinous xanthomatosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008948",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4666,
      "label": "xanthomatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19108
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3345",
          "GARD:0023188",
          "HP:0000991",
          "MEDGEN:21939",
          "MESH:D014973",
          "SCTID:63103006",
          "UMLS:C0043325"
        ],
        "synonyms": [
          "xanthomatosis",
          "xanthomatosis (disease)"
        ],
        "definition": "A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells."
      },
      "child_count": 1,
      "reference_id": "MONDO:0002615"
    },
    {
      "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": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    },
    {
      "id": 19085,
      "label": "inborn disorder of bile acid synthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059,
        19117,
        23517
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018949",
          "GTR:AN0923838",
          "MEDGEN:98324",
          "NANDO:2200506",
          "NORD:854",
          "Orphanet:79168",
          "UMLS:C0400973"
        ],
        "synonyms": [
          "Bile Acid Synthesis Disorders",
          "inborn bile acid biosynthetic process disorder",
          "inborn error of bile acid biosynthetic process",
          "rare inborn error of bile acid biosynthetic process",
          "disorder of bile acid synthesis",
          "inborn errors of bile acid synthesis"
        ],
        "definition": "Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis."
      },
      "child_count": 15,
      "reference_id": "MONDO:0019218"
    },
    {
      "id": 19144,
      "label": "subcutaneous tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:712397",
          "Orphanet:79382",
          "UMLS:C1290008"
        ],
        "synonyms": [
          "disease of superficial fascia",
          "disease or disorder of superficial fascia",
          "disorder of superficial fascia",
          "superficial fascia disease",
          "superficial fascia disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the superficial fascia."
      },
      "child_count": 19,
      "reference_id": "MONDO:0019296"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019413",
          "MEDGEN:1842756",
          "Orphanet:98096",
          "UMLS:C5681517"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020044"
    },
    {
      "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"
    },
    {
      "id": 23512,
      "label": "cholesterol catabolic process disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23505
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025931",
          "MEDGEN:575238",
          "SCTID:238032002",
          "UMLS:C0342825"
        ],
        "synonyms": [
          "cholesterol catabolism disease",
          "disorder of cholesterol catabolic process",
          "disorder of cholesterol catabolism"
        ],
        "definition": "A disease that has its basis in the disruption of cholesterol catabolic process."
      },
      "child_count": 1,
      "reference_id": "MONDO:0045016"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4666,
      "label": "xanthomatosis"
    },
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 19085,
      "label": "inborn disorder of bile acid synthesis"
    },
    {
      "id": 19144,
      "label": "subcutaneous tissue disorder"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia"
    },
    {
      "id": 23512,
      "label": "cholesterol catabolic process disease"
    }
  ]
}