{
  "id": 26000,
  "label": "amyloidosis, hereditary systemic 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0971004",
  "properties": {
    "xrefs": [
      "GARD:0027098",
      "MEDGEN:414031",
      "OMIM:105210",
      "UMLS:C2751492"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": [
    {
      "id": 19268,
      "label": "ATTRV122I amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16880,
        26000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016755",
          "MEDGEN:907865",
          "Orphanet:85451",
          "SCTID:715655000",
          "UMLS:C4275067",
          "icd11.foundation:1449168185"
        ],
        "synonyms": [
          "ATTRV122I-related amyloidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare hereditary Transthyretin (TTR)-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019441"
    },
    {
      "id": 24277,
      "label": "ATTRV30M amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        26000
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100552"
    }
  ],
  "roots": [
    {
      "id": 8513,
      "label": "familial amyloid neuropathy"
    }
  ]
}