{
  "id": 8513,
  "label": "familial amyloid neuropathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007100",
  "properties": {
    "xrefs": [
      "DOID:0050638",
      "DOID:0050761",
      "EFO:0004129",
      "GARD:0021017",
      "ICD9:277.39",
      "MEDGEN:104815",
      "MESH:C567782",
      "NANDO:1200214",
      "NANDO:1201060",
      "NCIT:C84554",
      "OMIMPS:105210",
      "Orphanet:271861",
      "SCTID:42295001",
      "UMLS:C0206245",
      "icd11.foundation:807065795"
    ],
    "synonyms": [
      "ATTRv amyloidosis",
      "amyloid neuropathies, familial",
      "familial TTR-related amyloidosis",
      "familial amyloid neuropathy",
      "familial amyloid polyneuropathy",
      "familial transthyretin-related amyloidosis",
      "hATTR",
      "hereditary TTR amyloid polyneuropathy",
      "hereditary TTR amyloidosis",
      "hereditary transthyretin amyloid polyneuropathy",
      "paramyloidosis",
      "hereditary amyloidosis, transthyretin-related"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 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": [
    {
      "id": 26000,
      "label": "amyloidosis, hereditary systemic 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8513
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027098",
          "MEDGEN:414031",
          "OMIM:105210",
          "UMLS:C2751492"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0971004"
    },
    {
      "id": 26004,
      "label": "amyloidosis, hereditary systemic 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8513
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027101",
          "MEDGEN:1635231",
          "OMIM:620657",
          "UMLS:C4551500"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971008"
    },
    {
      "id": 26005,
      "label": "amyloidosis, hereditary systemic 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8513
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027102",
          "MEDGEN:1859086",
          "OMIM:620658",
          "UMLS:C5935572"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971009"
    },
    {
      "id": 26006,
      "label": "amyloidosis, hereditary systemic 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8513
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027103",
          "MEDGEN:1860723",
          "OMIM:620659",
          "UMLS:C5935573"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971010"
    }
  ],
  "roots": [
    {
      "id": 18631,
      "label": "hereditary amyloidosis"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}