{
  "id": 16181,
  "label": "primary cutaneous amyloidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015301",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 18960,
      "label": "amyloidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20409
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9120",
          "EFO:1001875",
          "GARD:0018676",
          "HP:0011034",
          "ICD10CM:E85",
          "ICD10WHO:E85",
          "ICD9:277.3",
          "ICD9:277.30",
          "MEDGEN:272",
          "MESH:D000686",
          "MedDRA:10002022",
          "NANDO:2200138",
          "NCIT:C2868",
          "ONCOTREE:MIDDA",
          "Orphanet:69",
          "SCTID:17602002",
          "UMLS:C0002726",
          "icd11.foundation:2078467774"
        ],
        "synonyms": [
          "amyloid",
          "amyloid disease",
          "amyloidoses",
          "amyloidosis",
          "amyloidosis (disease)"
        ],
        "definition": "A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019065"
    },
    {
      "id": 20387,
      "label": "dermis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1843083",
          "Orphanet:79381",
          "UMLS:C5681483"
        ],
        "synonyms": [
          "dermis disease",
          "dermis disease or disorder",
          "disease of dermis",
          "disease or disorder of dermis",
          "disorder of dermis",
          "other dermis disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease that involves the dermis."
      },
      "child_count": 28,
      "reference_id": "MONDO:0021154"
    }
  ],
  "children": [
    {
      "id": 8514,
      "label": "familial primary localized cutaneous amyloidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16181,
        18631,
        23867
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0007101"
    },
    {
      "id": 16182,
      "label": "nodular cutaneous amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001882",
          "GARD:0010562",
          "MEDGEN:900275",
          "MedDRA:10056953",
          "Orphanet:137810",
          "SCTID:716704007",
          "UMLS:C4274331"
        ],
        "synonyms": [
          "PLCNA",
          "amyloidosis nodular localised cutaneous",
          "amyloidosis nodular localized cutaneous",
          "primary localised cutaneous nodular amyloidosis",
          "primary localized cutaneous nodular amyloidosis",
          "NLCA",
          "amyloidosis cutis nodularis atrophicans"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015302"
    },
    {
      "id": 16183,
      "label": "macular amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019885",
          "MEDGEN:1372504",
          "Orphanet:137814",
          "UMLS:C0544839",
          "icd11.foundation:1192013809"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015303"
    },
    {
      "id": 18113,
      "label": "amyloidosis cutis dyschromia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080932",
          "GARD:0017466",
          "MEDGEN:1641859",
          "Orphanet:319635",
          "UMLS:C4554601"
        ],
        "synonyms": [
          "amyloidosis cutis dyschromica"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017906"
    },
    {
      "id": 18792,
      "label": "lichen amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16181
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018839",
          "MEDGEN:1830282",
          "Orphanet:49804",
          "SCTID:718105008",
          "UMLS:C5779561"
        ],
        "synonyms": [
          "amyloid lichen",
          "lichen amyloidosus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018856"
    }
  ],
  "roots": [
    {
      "id": 18960,
      "label": "amyloidosis"
    },
    {
      "id": 20387,
      "label": "dermis disorder"
    }
  ]
}