{
  "id": 8514,
  "label": "familial primary localized cutaneous amyloidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007101",
  "properties": {
    "xrefs": [
      "GARD:0017533",
      "MEDGEN:725603",
      "MESH:C562643",
      "OMIMPS:105250",
      "Orphanet:353220",
      "UMLS:C1304242"
    ],
    "synonyms": [
      "FPLCA",
      "hereditary primary cutaneous amyloidosis",
      "primary localised cutaneous amyloidosis",
      "primary localized cutaneous amyloidosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16181,
      "label": "primary cutaneous amyloidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18960,
        20387
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050639",
          "GARD:0000132",
          "MEDGEN:120635",
          "MESH:C562642",
          "MedDRA:10011659",
          "NCIT:C199391",
          "Orphanet:137807",
          "SCTID:282834007",
          "UMLS:C0268397"
        ],
        "synonyms": [
          "primary localised cutaneous amyloidosis",
          "primary localized cutaneous amyloidosis",
          "PLCA",
          "familial primary localised cutaneous amyloidosis",
          "familial primary localized cutaneous amyloidosis",
          "amyloidosis IX",
          "amyloidosis familial cutaneous lichen",
          "amyloidosis, primary localised cutaneous",
          "amyloidosis, primary localized cutaneous",
          "lichen amyloidosis familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis."
      },
      "child_count": 10,
      "reference_id": "MONDO:0015301"
    },
    {
      "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": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 14532,
      "label": "amyloidosis, primary localized cutaneous, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8514
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080931",
          "GARD:0018638",
          "MEDGEN:462754",
          "OMIM:613955",
          "UMLS:C3151404"
        ],
        "synonyms": [
          "amyloidosis, primary localised cutaneous, type 2",
          "amyloidosis, primary localized cutaneous, 2",
          "amyloidosis, primary localized cutaneous, type 2",
          "PLCA2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013502"
    },
    {
      "id": 21468,
      "label": "amyloidosis, primary localized cutaneous, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8514
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080930",
          "GARD:0018637",
          "MEDGEN:1639046",
          "OMIM:105250",
          "UMLS:C4551501"
        ],
        "synonyms": [
          "OSMR primary cutaneous amyloidosis",
          "PLCA1",
          "amyloidosis 9",
          "amyloidosis, primary cutaneous, 1",
          "amyloidosis, primary localised cutaneous, type 1",
          "amyloidosis, primary localized cutaneous, 1",
          "amyloidosis, primary localized cutaneous, type 1",
          "primary cutaneous amyloidosis caused by mutation in OSMR",
          "PCA",
          "amyloidosis, familial cutaneous lichen",
          "lichen amyloidosis, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024522"
    },
    {
      "id": 23618,
      "label": "amyloidosis, primary localized cutaneous, 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8514
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025971",
          "MEDGEN:1640641",
          "OMIM:617920",
          "UMLS:C4554421"
        ],
        "synonyms": [
          "PLCA3",
          "amyloidosis cutis dyschromica",
          "amyloidosis, PRIMARY LOCALIZED cutaneous, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054765"
    }
  ],
  "roots": [
    {
      "id": 16181,
      "label": "primary cutaneous amyloidosis"
    },
    {
      "id": 18631,
      "label": "hereditary amyloidosis"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}