{
  "id": 24277,
  "label": "ATTRV30M amyloidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100552",
  "properties": {
    "xrefs": [
      "GARD:0016754",
      "MEDGEN:78669",
      "Orphanet:85447",
      "UMLS:C0268384",
      "icd11.foundation:1736273667"
    ],
    "synonyms": [
      "ATTRV30M-related amyloidosis",
      "hereditary ATTRV30M-related amyloidosis",
      "TTR amyloid neuropathyy",
      "amyloidosis transthyretin related",
      "familial amyloid polyneuropathy type I",
      "familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type",
      "transthyretin amyloid neuropathy",
      "transthyretin amyloid polyneuropathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 26000,
      "label": "amyloidosis, hereditary systemic 1"
    }
  ]
}