{
  "id": 17007,
  "label": "Hermansky-Pudlak syndrome without pulmonary fibrosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016502",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": [
    {
      "id": 14583,
      "label": "Hermansky-Pudlak syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17007
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060541",
          "GARD:0018333",
          "MEDGEN:854708",
          "OMIM:614072",
          "UMLS:C3888001"
        ],
        "synonyms": [
          "HPS3 Hermansky-Pudlak syndrome",
          "Hermansky-Pudlak syndrome 3",
          "Hermansky-Pudlak syndrome caused by mutation in HPS3",
          "Hermansky-Pudlak syndrome type 3",
          "HPS3"
        ],
        "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 HPS3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013555"
    },
    {
      "id": 14585,
      "label": "Hermansky-Pudlak syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17007
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060543",
          "GARD:0018334",
          "MEDGEN:854711",
          "OMIM:614074",
          "UMLS:C3888004"
        ],
        "synonyms": [
          "HPS5 Hermansky-Pudlak syndrome",
          "Hermansky-Pudlak syndrome 5",
          "Hermansky-Pudlak syndrome caused by mutation in HPS5",
          "Hermansky-Pudlak syndrome type 5",
          "HPS5"
        ],
        "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 HPS5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013557"
    },
    {
      "id": 14586,
      "label": "Hermansky-Pudlak syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17007
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013558"
    }
  ],
  "roots": [
    {
      "id": 19153,
      "label": "Hermansky-Pudlak syndrome"
    }
  ]
}