{
  "id": 8510,
  "label": "Finnish type amyloidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007097",
  "properties": {
    "xrefs": [
      "DOID:0050637",
      "GARD:0002339",
      "ICD9:277.39",
      "MEDGEN:301243",
      "MESH:C537459",
      "NANDO:1201063",
      "OMIM:105120",
      "Orphanet:85448",
      "SCTID:419398009",
      "UMLS:C1622345"
    ],
    "synonyms": [
      "amyloidosis, MERETOJA type",
      "familial amyloid polyneuropathy type IV",
      "familial amyloidosis, Finnish type",
      "gelsolin amyloidosis",
      "hereditary amyloidosis, Finnish type",
      "meretoja syndrome",
      "AGel amyloidosis",
      "amyloid cranial neuropathy with lattice corneal dystrophy",
      "amyloidosis 5",
      "amyloidosis V",
      "amyloidosis due to mutant gelsolin",
      "amyloidosis, Finnish type",
      "amyloidosis, Meretoja type",
      "cerebral amyloid angiopathy, Gsn-related",
      "corneal dystrophy, lattice type 2",
      "hereditary gelsolin amyloidosis",
      "lattice corneal dystrophy type II Finnish",
      "lattice corneal dystrophy, type 2",
      "meretoja type amyloidosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 18261,
      "label": "corneal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3211
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2566",
          "GARD:0027867",
          "HP:0001131",
          "ICD9:371.5",
          "ICD9:371.50",
          "MEDGEN:3619",
          "MESH:D003317",
          "MedDRA:10011005",
          "NCIT:C34513",
          "Orphanet:34533",
          "SCTID:5587004",
          "UMLS:C0010036",
          "icd11.foundation:1291475891"
        ],
        "synonyms": [
          "corneal dystrophy",
          "corneal dystrophy (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value."
      },
      "child_count": 13,
      "reference_id": "MONDO:0018102"
    },
    {
      "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18261,
      "label": "corneal dystrophy"
    },
    {
      "id": 18631,
      "label": "hereditary amyloidosis"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}