{
  "id": 4082,
  "label": "ochronosis disorder",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001910",
  "properties": {
    "xrefs": [
      "DOID:14223",
      "GARD:0007231",
      "HP:0030764",
      "ICD9:270.2",
      "MEDGEN:45177",
      "MESH:D009794",
      "NCIT:C84938",
      "SCTID:410042009",
      "UMLS:C0028817"
    ],
    "synonyms": [
      "ochronosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 5762,
      "label": "connective tissue disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:65",
          "EFO:1001986",
          "MEDGEN:1098",
          "MESH:D003240",
          "NANDO:2100172",
          "NCIT:C26729",
          "SCTID:105969002",
          "UMLS:C0009782"
        ],
        "synonyms": [
          "connective tissue disease",
          "connective tissue disease or disorder",
          "connective tissue diseases",
          "connective tissue disorder",
          "connective tissue disorders",
          "disease of connective tissue",
          "disease or disorder of connective tissue",
          "disease, connective tissue",
          "disorder of connective tissue",
          "primary disorder of connective tissue",
          "tissue disease, connective"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A disease involving the connective tissue."
      },
      "child_count": 16,
      "reference_id": "MONDO:0003900"
    },
    {
      "id": 6795,
      "label": "metabolic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0014667",
          "EFO:0000589",
          "ICD10CM:E70-E88",
          "ICD10WHO:E70-E90",
          "ICD9:277.8",
          "ICD9:277.9",
          "MEDGEN:44376",
          "MESH:D008659",
          "NANDO:1100002",
          "NCIT:C3235",
          "SCTID:75934005",
          "UMLS:C0025517"
        ],
        "synonyms": [
          "disorder of metabolic process",
          "metabolic disease",
          "metabolic disorder",
          "metabolic process disease",
          "disease of metabolism"
        ],
        "definition": "A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process."
      },
      "child_count": 37,
      "reference_id": "MONDO:0005066"
    },
    {
      "id": 6893,
      "label": "skeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4222
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002461",
          "MEDGEN:538042",
          "SCTID:88230002",
          "UMLS:C0263661"
        ],
        "synonyms": [
          "disease of skeletal system",
          "disease or disorder of skeletal system",
          "disorder of skeletal system",
          "skeletal system disease",
          "skeletal system disease or disorder",
          "disease of bone and/or joint",
          "osteoarthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0005172"
    }
  ],
  "children": [
    {
      "id": 21132,
      "label": "exogenous ochronosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027910",
          "ICD9:270.2",
          "MEDGEN:1854236",
          "MESH:C531762",
          "SCTID:410041002",
          "UMLS:C5887145",
          "icd11.foundation:835922687"
        ],
        "synonyms": [
          "exogenous ochronosis",
          "ochronosis, acquired",
          "ocular ochronosis",
          "pseudo-ochronosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria."
      },
      "child_count": 0,
      "reference_id": "MONDO:0023094"
    }
  ],
  "roots": [
    {
      "id": 5762,
      "label": "connective tissue disorder"
    },
    {
      "id": 6795,
      "label": "metabolic disease"
    },
    {
      "id": 6893,
      "label": "skeletal system disorder"
    }
  ]
}