{
  "id": 22225,
  "label": "inherited interstitial lung disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0031199",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16615,
      "label": "interstitial lung disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3082",
          "EFO:0004244",
          "ICD10CM:J80-J84",
          "MEDGEN:1788738",
          "MESH:D017563",
          "MedDRA:10022611",
          "NCIT:C164315",
          "Orphanet:182095",
          "SCTID:233703007",
          "UMLS:C5441745"
        ],
        "synonyms": [
          "ILD",
          "interstitial lung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features."
      },
      "child_count": 14,
      "reference_id": "MONDO:0015925"
    }
  ],
  "children": [
    {
      "id": 2743,
      "label": "pulmonary fibrosis and/or bone marrow failure, telomere-related",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4804,
        22225,
        23885
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022715",
          "OMIMPS:614742"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 27,
      "reference_id": "MONDO:0000148"
    },
    {
      "id": 9125,
      "label": "hypersensitivity pneumonitis, familial",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18069,
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008240",
          "MEDGEN:326724",
          "MESH:C536846",
          "OMIM:145300",
          "UMLS:C1840386"
        ],
        "synonyms": [
          "hereditary hypersensitivity pneumonitis",
          "hypersensitivity pneumonitis, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007776"
    },
    {
      "id": 11136,
      "label": "alveolar capillary dysplasia with misalignment of pulmonary veins",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17417,
        19778,
        22225,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13042",
          "GARD:0008644",
          "ICD9:747.49",
          "ICD9:747.83",
          "MEDGEN:755478",
          "MESH:C536590",
          "MedDRA:10054726",
          "NCIT:C98809",
          "NORD:759",
          "OMIM:265380",
          "Orphanet:210122",
          "SCTID:447275002",
          "UMLS:C2960310"
        ],
        "synonyms": [
          "ACDMPV",
          "alveolar capillary dysplasia",
          "alveolar capillary dysplasia with misalignment of pulmonary veins",
          "alveolar capillary dysplasia with misalignment of pulmonary vessels",
          "congenital alveolar capillary dysplasia",
          "foetal circulation",
          "alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies",
          "alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies",
          "alveolar capillary dysplasia with pulmonary venous misalignment",
          "familial persistent pulmonary hypertension of the newborn",
          "persistent fetal circulation",
          "persistent foetal circulation",
          "persistent foetal circulation syndrome",
          "persistent pulmonary hypertension of the newborn",
          "pulmonary hypertension, familial persistent of the newborn"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009934"
    },
    {
      "id": 12950,
      "label": "Niemann-Pick disease type B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17416,
        19748,
        22225,
        24190
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070112",
          "GARD:0010729",
          "ICD10CM:E75.241",
          "MEDGEN:78651",
          "MESH:D052537",
          "NANDO:1200062",
          "NANDO:2201207",
          "NCIT:C126866",
          "OMIM:607616",
          "Orphanet:77293",
          "SCTID:39390005",
          "UMLS:C0268243",
          "icd11.foundation:327269975"
        ],
        "synonyms": [
          "type B Niemann-Pick disease",
          "Niemann Pick disease type B",
          "Niemann-PICK disease, type B",
          "Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression",
          "Niemann-Pick disease, type E",
          "Niemann-Pick disease, type F"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea"
      },
      "child_count": 0,
      "reference_id": "MONDO:0011871"
    },
    {
      "id": 13629,
      "label": "interstitial lung disease due to ABCA3 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627,
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017745",
          "MEDGEN:410074",
          "MESH:C567046",
          "OMIM:610921",
          "Orphanet:440402",
          "UMLS:C1970456"
        ],
        "synonyms": [
          "interstitial lung disease due to ABCA3 deficiency",
          "interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency",
          "surfactant metabolism dysfunction, pulmonary, type 3",
          "SMDP3",
          "pulmonary alveolar proteinosis, congenital, 3",
          "surfactant metabolism dysfunction, pulmonary, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012582"
    },
    {
      "id": 13797,
      "label": "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17417,
        22225,
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016947",
          "MEDGEN:461506",
          "OMIM:611926",
          "Orphanet:137631",
          "SCTID:721977007",
          "UMLS:C3150156"
        ],
        "synonyms": [
          "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012757"
    },
    {
      "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": 18499,
      "label": "familial hypocalciuric hypercalcemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3771,
        6875,
        17416,
        18954,
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060699",
          "GARD:0010828",
          "MEDGEN:369200",
          "NCIT:C123262",
          "OMIMPS:145980",
          "Orphanet:405",
          "SCTID:237885008",
          "UMLS:C1809471",
          "icd11.foundation:81374726"
        ],
        "synonyms": [
          "familial benign hypercalcemia",
          "familial benign hypocalciuric hypercalcemia",
          "FBH",
          "FBHH",
          "FHH",
          "hypocalciuric hypercalcemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration."
      },
      "child_count": 15,
      "reference_id": "MONDO:0018458"
    },
    {
      "id": 18605,
      "label": "SFTPC-related interstitial lung disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13627,
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017744",
          "Orphanet:440392"
        ],
        "synonyms": [
          "SFTPC-related ILD",
          "interstitial lung disease due to SP-C deficiency",
          "interstitial lung disease due to surfactant protein C deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018603"
    },
    {
      "id": 21986,
      "label": "interstitial lung disease 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060941",
          "GARD:0027931",
          "MEDGEN:1794231",
          "OMIM:619611",
          "UMLS:C5562021"
        ],
        "synonyms": [
          "ILD1",
          "interstitial lung disease 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An interstitial lung disease in which the cause of the disease is a variation in the SFTPA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030608"
    },
    {
      "id": 23955,
      "label": "Rajab interstitial lung disease with brain calcifications",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026084",
          "MEDGEN:462260",
          "OMIMPS:613658",
          "UMLS:C3150910"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0100214"
    },
    {
      "id": 24830,
      "label": "Lane Hamilton syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6854,
        9649,
        18954,
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026443"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease, and is typically seen in children under the age of 15."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800124"
    },
    {
      "id": 25081,
      "label": "interstitial lung disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22225
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060971",
          "GARD:0028066",
          "MEDGEN:1794136",
          "OMIM:178500",
          "UMLS:C5561926"
        ],
        "synonyms": [
          "fibrocystic pulmonary dysplasia",
          "fibrosing alveolitis, cryptogenic",
          "idiopathic pulmonary fibrosis, familial",
          "interstitial pneumonitis, usual",
          "pulmonary fibrosis, idiopathic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An interstitial lung disease in which the cause of the disease is a variation in the SFTPA2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800497"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16615,
      "label": "interstitial lung disease"
    }
  ]
}