{
  "id": 14588,
  "label": "Hermansky-Pudlak syndrome 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013560",
  "properties": {
    "xrefs": [
      "DOID:0060546",
      "GARD:0018337",
      "MEDGEN:854728",
      "OMIM:614077",
      "Orphanet:231537",
      "UMLS:C3888026"
    ],
    "synonyms": [
      "BLOC1S3 Hermansky-Pudlak syndrome",
      "HPS8",
      "Hermansky-Pudlak syndrome 8",
      "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3",
      "Hermansky-Pudlak syndrome type 8"
    ],
    "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 BLOC1S3 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19153,
      "label": "Hermansky-Pudlak syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17626,
        17972,
        20411
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3753",
          "GARD:0006643",
          "ICD10CM:E70.331",
          "ICD9:270.2",
          "MEDGEN:36313",
          "MESH:D022861",
          "MedDRA:10071775",
          "NANDO:1200638",
          "NCIT:C37261",
          "NORD:1918",
          "OMIMPS:203300",
          "Orphanet:79430",
          "SCTID:9311003",
          "UMLS:C0079504",
          "icd11.foundation:2089801290"
        ],
        "synonyms": [
          "HPS",
          "HPS (Hermansky Pudlak syndrome)",
          "Hepatopulmonary Syndrome",
          "Hermansky Pudlak syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity."
      },
      "child_count": 27,
      "reference_id": "MONDO:0019312"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19153,
      "label": "Hermansky-Pudlak syndrome"
    }
  ]
}