{
  "id": 18594,
  "label": "ITM2B amyloidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018591",
  "properties": {
    "xrefs": [
      "GARD:0017741",
      "ICD9:277.39",
      "MEDGEN:82800",
      "Orphanet:439254",
      "SCTID:45639009",
      "UMLS:C0268393",
      "icd11.foundation:503091580"
    ],
    "synonyms": [
      "ITM2B-related amyloidosis",
      "ITM2B-related cerebral amyloid angiopathy",
      "familial cerebral amyloid angiopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18631,
      "label": "hereditary amyloidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        18960
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006611",
          "MEDGEN:148146",
          "MESH:D028226",
          "NCIT:C84555",
          "Orphanet:444116",
          "SCTID:367601000119103",
          "UMLS:C0740340",
          "icd11.foundation:1152878652"
        ],
        "synonyms": [
          "amyloidosis, Familial",
          "hereditary amyloidosis (disease)",
          "amyloidosis hereditary",
          "familial amyloidosis"
        ],
        "definition": "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants."
      },
      "child_count": 18,
      "reference_id": "MONDO:0018634"
    },
    {
      "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": 8697,
      "label": "ADan amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7260,
        18594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070030",
          "GARD:0009169",
          "MEDGEN:396208",
          "MESH:C538209",
          "OMIM:117300",
          "Orphanet:97346",
          "UMLS:C1861735",
          "icd11.foundation:2086401830",
          "icd11.foundation:54507082"
        ],
        "synonyms": [
          "FDD",
          "HOOE",
          "Heredopathia Ophthalmootoencephalica",
          "cerebellar ataxia, cataract, deafness, and dementia Or psychosis",
          "cerebral amyloid angiopathy, ITM2B-related, type 2",
          "familial Danish dementia",
          "familial dementia, Danish type",
          "ITM2B-related cerebral amyloid angiopathy 2",
          "cerebellar ataxia, cataract, deafness, and dementia or psychosis",
          "cerebral amyloid angiopathy, ITM2B-RELATED, 2",
          "dementia, familial Danish"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007297"
    },
    {
      "id": 9612,
      "label": "ABri amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7260,
        18594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070029",
          "GARD:0008344",
          "MEDGEN:1677186",
          "MESH:C538208",
          "OMIM:176500",
          "Orphanet:97345",
          "UMLS:C5190835",
          "icd11.foundation:1037669378",
          "icd11.foundation:1314005795"
        ],
        "synonyms": [
          "ABri amyloidosis",
          "FBD",
          "cerebral amyloid angiopathy, British type",
          "cerebral amyloid angiopathy, ITM2B-related, type 1",
          "familial dementia, British type",
          "presenile dementia with spastic ataxia",
          "Bri amyloidosis",
          "ITM2B-related cerebral amyloid angiopathy 1",
          "cerebral amyloid angiopathy, ITM2B-RELATED, 1",
          "dementia familial British",
          "dementia, familial British"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008306"
    }
  ],
  "roots": [
    {
      "id": 18631,
      "label": "hereditary amyloidosis"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}