{
  "id": 9670,
  "label": "Dowling-Degos disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008371",
  "properties": {
    "xrefs": [
      "DOID:0060256",
      "GARD:0009775",
      "MEDGEN:811363",
      "MESH:C562924",
      "MedDRA:10068651",
      "Orphanet:79145",
      "UMLS:C3714534",
      "icd11.foundation:15123132"
    ],
    "synonyms": [
      "Dowling-Degos disease type 1",
      "reticular pigment anomaly of flexures",
      "DDD1",
      "Dowling-Degos Kitamura disease",
      "Dowling-Degos disease 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 2731,
      "label": "reticulate pigment disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19139,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022712",
          "OMIMPS:179850"
        ],
        "synonyms": [
          "reticulate pigment disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0000118"
    },
    {
      "id": 17976,
      "label": "disorder of fucoglycosan synthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17974
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021341",
          "MEDGEN:1843205",
          "Orphanet:309505",
          "UMLS:C5681046"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0017747"
    },
    {
      "id": 19140,
      "label": "hyperpigmentation of the skin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0000953",
          "ICD9:709.09",
          "MEDGEN:57992",
          "Orphanet:79375",
          "SCTID:49765009",
          "UMLS:C0162834"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0019289"
    }
  ],
  "children": [
    {
      "id": 15137,
      "label": "Dowling-Degos disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9670
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015944",
          "MEDGEN:815477",
          "OMIM:615327",
          "UMLS:C3809147"
        ],
        "synonyms": [
          "Dowling-Degos disease 2",
          "Dowling-Degos disease caused by mutation in POFUT1",
          "Dowling-Degos disease type 2",
          "POFUT1 Dowling-Degos disease",
          "DDD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014130"
    },
    {
      "id": 15305,
      "label": "dowling-degos disease 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9670
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016001",
          "MEDGEN:816616",
          "OMIM:615674",
          "UMLS:C3810286"
        ],
        "synonyms": [
          "DDD3",
          "Dowling-Degos disease 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014301"
    },
    {
      "id": 15311,
      "label": "Dowling-Degos disease 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9670
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016002",
          "MEDGEN:816643",
          "OMIM:615696",
          "UMLS:C3810313"
        ],
        "synonyms": [
          "Dowling-Degos disease 4",
          "Dowling-Degos disease caused by mutation in POGLUT1",
          "Dowling-Degos disease type 4",
          "POGLUT1 Dowling-Degos disease",
          "DDD4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014307"
    },
    {
      "id": 21480,
      "label": "Dowling-Degos disease 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9670
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025416",
          "MEDGEN:1645697",
          "OMIM:179850",
          "UMLS:C4552092"
        ],
        "synonyms": [
          "Dowling-Degos disease 1",
          "Dowling-Degos disease caused by mutation in KRT5",
          "KRT5 Dowling-Degos disease",
          "DDD",
          "DDD1",
          "reticular pigment anomaly of flexures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024534"
    }
  ],
  "roots": [
    {
      "id": 2731,
      "label": "reticulate pigment disorder"
    },
    {
      "id": 17976,
      "label": "disorder of fucoglycosan synthesis"
    },
    {
      "id": 19140,
      "label": "hyperpigmentation of the skin"
    }
  ]
}