{
  "id": 19153,
  "label": "Hermansky-Pudlak syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019312",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 17626,
      "label": "syndromic oculocutaneous albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        18283,
        19141,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021125",
          "MEDGEN:1843078",
          "Orphanet:284811",
          "UMLS:C5681016"
        ],
        "synonyms": [
          "syndrome associated with oculocutaneous albinism",
          "syndromic oculocutaneous albinism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A oculocutaneous albinism that is part of a larger syndrome."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017305"
    },
    {
      "id": 17972,
      "label": "disorder of lysosomal-related organelles",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021334",
          "MEDGEN:1826110",
          "Orphanet:309340",
          "UMLS:C5681043"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017739"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2214",
          "GARD:0020319",
          "MEDGEN:163105",
          "MESH:D025861",
          "Orphanet:183654",
          "UMLS:C0852077"
        ],
        "synonyms": [
          "coagulation disorder, hereditary",
          "coagulation disorder, inherited",
          "coagulation disorders, hereditary",
          "coagulation disorders, inherited",
          "hereditary blood coagulation disease",
          "hereditary blood coagulation disorders",
          "hereditary coagulation disorder",
          "hereditary coagulation disorders",
          "inherited blood coagulation disorders",
          "inherited coagulation disorder",
          "inherited coagulation disorders",
          "rare genetic coagulation disorder",
          "inherited blood coagulation disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation."
      },
      "child_count": 78,
      "reference_id": "MONDO:0021181"
    }
  ],
  "children": [
    {
      "id": 13068,
      "label": "Hermansky-Pudlak syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16076,
        16355,
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060540",
          "GARD:0015026",
          "MEDGEN:374912",
          "MESH:C537709",
          "NANDO:2200733",
          "NCIT:C150368",
          "OMIM:608233",
          "Orphanet:183678",
          "Orphanet:664500",
          "UMLS:C1842362"
        ],
        "synonyms": [
          "AP3B1 Hermansky-Pudlak syndrome",
          "HPS-2",
          "HPS2",
          "Hermansky-Pudlak syndrome 2",
          "Hermansky-Pudlak syndrome caused by mutation in AP3B1",
          "Hermansky-Pudlak syndrome type 2",
          "Hermansky Pudlak syndrome 2",
          "Hermansky-Pudlak syndrome with neutropenia",
          "Platelet defects and oculocutaneous albinism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011997"
    },
    {
      "id": 14587,
      "label": "Hermansky-Pudlak syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060545",
          "GARD:0018336",
          "MEDGEN:481386",
          "OMIM:614076",
          "Orphanet:231531",
          "UMLS:C3279756"
        ],
        "synonyms": [
          "DTNBP1 Hermansky-Pudlak syndrome",
          "HPS7",
          "Hermansky-Pudlak syndrome 7",
          "Hermansky-Pudlak syndrome caused by mutation in DTNBP1",
          "Hermansky-Pudlak syndrome type 7"
        ],
        "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 DTNBP1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013559"
    },
    {
      "id": 14588,
      "label": "Hermansky-Pudlak syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19153
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013560"
    },
    {
      "id": 14632,
      "label": "Hermansky-Pudlak syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16355,
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060547",
          "GARD:0018338",
          "MEDGEN:481656",
          "OMIM:614171",
          "Orphanet:280663",
          "UMLS:C3280026"
        ],
        "synonyms": [
          "BLOC1S6 Hermansky-Pudlak syndrome",
          "HPS9",
          "Hermansky-Pudlak syndrome 9",
          "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6",
          "Hermansky-Pudlak syndrome type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013606"
    },
    {
      "id": 15866,
      "label": "Hermansky-Pudlak syndrome 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016180",
          "MEDGEN:934713",
          "OMIM:617050",
          "Orphanet:664511",
          "UMLS:C4310746"
        ],
        "synonyms": [
          "AP3D1 Hermansky-Pudlak syndrome",
          "HPS10",
          "Hermansky-Pudlak syndrome 10",
          "Hermansky-Pudlak syndrome 10; HPS10",
          "Hermansky-Pudlak syndrome caused by mutation in AP3D1",
          "Hermansky-Pudlak syndrome type 10"
        ],
        "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 AP3D1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014885"
    },
    {
      "id": 17006,
      "label": "Hermansky-Pudlak syndrome with pulmonary fibrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17416,
        19153,
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017168",
          "MEDGEN:1843223",
          "Orphanet:231500",
          "UMLS:C5679834",
          "icd11.foundation:1086187623"
        ],
        "synonyms": [
          "HPS with pulmonary fibrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016501"
    },
    {
      "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"
    },
    {
      "id": 21234,
      "label": "Kotzot-Richter syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003134",
          "MEDGEN:419793",
          "MESH:C537025",
          "OMIM:203285",
          "UMLS:C2931399"
        ],
        "synonyms": [
          "albinism with immune and hematologic defects",
          "oculocutaneous albinism, immunodeficiency, haematological disorders, and minor anomalies",
          "oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023563"
    },
    {
      "id": 22109,
      "label": "Hermansky-Pudlak syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018339",
          "MEDGEN:1727728",
          "OMIM:619172",
          "UMLS:C5436936"
        ],
        "synonyms": [
          "Hermansky-Pudlak syndrome",
          "HPS11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030903"
    }
  ],
  "roots": [
    {
      "id": 17626,
      "label": "syndromic oculocutaneous albinism"
    },
    {
      "id": 17972,
      "label": "disorder of lysosomal-related organelles"
    },
    {
      "id": 20411,
      "label": "inherited blood coagulation disorder"
    }
  ]
}