{
  "id": 13068,
  "label": "Hermansky-Pudlak syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011997",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16076,
      "label": "constitutional neutropenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3689,
        10564
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019809",
          "MEDGEN:1785816",
          "NCIT:C61242",
          "Orphanet:101987",
          "UMLS:C3805116",
          "icd11.foundation:87096615"
        ],
        "synonyms": [
          "congenital neutropenia",
          "genetic infantile agranulocytosis",
          "infantile genetic agranulocytosis",
          "Kostmann disease",
          "Kostmann neutropenia",
          "Kostmann syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015134"
    },
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5658,
        5714,
        16354
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006589",
          "ICD9:238.79",
          "MEDGEN:78797",
          "MedDRA:10070904",
          "OMIMPS:267700",
          "Orphanet:540",
          "SCTID:398250003",
          "UMLS:C0272199"
        ],
        "synonyms": [
          "familial hemophagocytic lymphohistiocytosis",
          "genetic hemophagocytic lymphohistiocytosis",
          "genetic hemophagocytic syndrome",
          "primary hemophagocytic lymphohistiocytosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "An instance of hemophagocytic lymphohistiocytosis that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 33,
      "reference_id": "MONDO:0015541"
    },
    {
      "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": 16076,
      "label": "constitutional neutropenia"
    },
    {
      "id": 16355,
      "label": "hereditary hemophagocytic lymphohistiocytosis"
    },
    {
      "id": 19153,
      "label": "Hermansky-Pudlak syndrome"
    }
  ]
}