{
  "id": 14586,
  "label": "Hermansky-Pudlak syndrome 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013558",
  "properties": {
    "xrefs": [
      "DOID:0060544",
      "GARD:0018335",
      "MEDGEN:854714",
      "NCIT:C150369",
      "OMIM:614075",
      "UMLS:C3888007"
    ],
    "synonyms": [
      "HPS6 Hermansky-Pudlak syndrome",
      "Hermansky-Pudlak syndrome 6",
      "Hermansky-Pudlak syndrome caused by mutation in HPS6",
      "Hermansky-Pudlak syndrome type 6",
      "HPS6"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17007,
      "label": "Hermansky-Pudlak syndrome without pulmonary fibrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017169",
          "MEDGEN:1842321",
          "Orphanet:231512",
          "UMLS:C5679833",
          "icd11.foundation:1363499932"
        ],
        "synonyms": [
          "HPS without pulmonary fibrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis."
      },
      "child_count": 3,
      "reference_id": "MONDO:0016502"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17007,
      "label": "Hermansky-Pudlak syndrome without pulmonary fibrosis"
    }
  ]
}