{
  "id": 26004,
  "label": "amyloidosis, hereditary systemic 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0971008",
  "properties": {
    "xrefs": [
      "GARD:0027101",
      "MEDGEN:1635231",
      "OMIM:620657",
      "UMLS:C4551500"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8513,
      "label": "familial amyloid neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18631,
        19748
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007100"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8513,
      "label": "familial amyloid neuropathy"
    }
  ]
}