{
  "id": 13155,
  "label": "ichthyosis prematurity syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012089",
  "properties": {
    "xrefs": [
      "GARD:0009886",
      "MEDGEN:324839",
      "MESH:C536271",
      "NCIT:C62590",
      "OMIM:608649",
      "Orphanet:88621",
      "SCTID:12381000132107",
      "UMLS:C1837610"
    ],
    "synonyms": [
      "IPS",
      "congenital ichthyosis type 4",
      "ichthyosis prematurity syndrome",
      "idiopathic pneumonia syndrome",
      "ichthyosis congenita 4",
      "ichthyosis congenita IV",
      "ichthyosis-prematurity syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4198,
      "label": "integumentary system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:16",
          "EFO:0010285",
          "MEDGEN:712400",
          "SCTID:128598002",
          "UMLS:C1290011"
        ],
        "synonyms": [
          "disease of integumental system",
          "disease or disorder of integumental system",
          "disorder of integumental system",
          "integumental system disease",
          "integumental system disease or disorder",
          "integumentary disease",
          "disorder of integument"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the integumental system."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002051"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "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": 23261,
      "label": "pneumonitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6971,
        20399
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001991",
          "MEDGEN:811420",
          "NCIT:C113159",
          "SCTID:205237003",
          "UMLS:C3714636",
          "icd11.foundation:1324545867"
        ],
        "synonyms": [
          "inflammation of lung parenchyma",
          "lung parenchyma inflammation",
          "pneumonitis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia."
      },
      "child_count": 12,
      "reference_id": "MONDO:0043905"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4198,
      "label": "integumentary system disorder"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 23261,
      "label": "pneumonitis"
    }
  ]
}