{
  "id": 17006,
  "label": "Hermansky-Pudlak syndrome with pulmonary fibrosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016501",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17416,
      "label": "interstitial lung disease specific to childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842412",
          "Orphanet:264656",
          "SCTID:328661000119108",
          "UMLS:C5679752"
        ],
        "synonyms": [
          "ILD specific to childhood",
          "chILD",
          "chILD syndrome",
          "childhood interstitial lung disease",
          "interstitial lung disease of childhood",
          "paediatric interstitial lung disease",
          "pediatric interstitial lung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A interstitial lung disease that occurs during childhood."
      },
      "child_count": 5,
      "reference_id": "MONDO:0017014"
    },
    {
      "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"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16615
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027936",
          "OMIMPS:619611"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An instance of interstitial lung disease that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0031199"
    }
  ],
  "children": [
    {
      "id": 10021,
      "label": "Hermansky-Pudlak syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17006
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060539",
          "GARD:0018331",
          "MEDGEN:419514",
          "MESH:C538539",
          "NCIT:C150367",
          "OMIM:203300",
          "UMLS:C2931875"
        ],
        "synonyms": [
          "HPS1 Hermansky-Pudlak syndrome",
          "Hermansky-Pudlak syndrome 1",
          "Hermansky-Pudlak syndrome caused by mutation in HPS1",
          "Hermansky-Pudlak syndrome type 1",
          "Delta storage pool disease",
          "HPS1",
          "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells"
        ],
        "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": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008748"
    },
    {
      "id": 14584,
      "label": "Hermansky-Pudlak syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17006
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060542",
          "GARD:0018332",
          "MEDGEN:483344",
          "OMIM:614073",
          "UMLS:C3484357"
        ],
        "synonyms": [
          "HPS4 Hermansky-Pudlak syndrome",
          "Hermansky-Pudlak syndrome 4",
          "Hermansky-Pudlak syndrome caused by mutation in HPS4",
          "Hermansky-Pudlak syndrome type 4",
          "HPS4"
        ],
        "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": "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013556"
    }
  ],
  "roots": [
    {
      "id": 17416,
      "label": "interstitial lung disease specific to childhood"
    },
    {
      "id": 19153,
      "label": "Hermansky-Pudlak syndrome"
    },
    {
      "id": 22225,
      "label": "inherited interstitial lung disease"
    }
  ]
}