{
  "id": 17416,
  "label": "interstitial lung disease specific to childhood",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017014",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "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": 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": 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": 17417,
      "label": "primary interstitial lung disease specific to childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010559",
          "MEDGEN:853969",
          "Orphanet:264665",
          "UMLS:C3161253",
          "icd11.foundation:1408868257"
        ],
        "synonyms": [
          "primary ILD specific to childhood",
          "primary interstitial lung disease specific to childhood",
          "cHILD",
          "children's interstitial lung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017015"
    },
    {
      "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": 24841,
      "label": "congenital emphysematous lung disease due to Filamin A loss-of-function variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17416
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026451"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Any interstitial lung disease specific to childhood caused by a loss-of-function variation in the FLNA gene. Female children are reported more often. Rare male patients with loss-of-function FLNA mutation-associated lung disease with residual protein function can survive into infancy with a severe form of the phenotype."
      },
      "child_count": 0,
      "reference_id": "MONDO:0800135"
    }
  ],
  "roots": [
    {
      "id": 16615,
      "label": "interstitial lung disease"
    }
  ]
}