{
  "id": 19130,
  "label": "ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019269",
  "properties": {
    "xrefs": [
      "DOID:1697",
      "GARD:0018985",
      "HP:0008064",
      "MEDGEN:7002",
      "MESH:D007057",
      "MedDRA:10021198",
      "NANDO:1200618",
      "NCIT:C84776",
      "Orphanet:79354",
      "UMLS:C0020757"
    ],
    "synonyms": [
      "DOC",
      "disorder of cornification",
      "fish scale disease",
      "fish skin disease",
      "ichthyosis",
      "ichthyosis (disease)",
      "non-syndromic ichthyosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19129,
      "label": "epidermal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842776",
          "Orphanet:79353",
          "UMLS:C5681492"
        ],
        "synonyms": [
          "epidermal disease",
          "rare epidermal disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A skin disease that involves the epidermis."
      },
      "child_count": 25,
      "reference_id": "MONDO:0019268"
    }
  ],
  "children": [
    {
      "id": 16624,
      "label": "inherited ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19130,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020261",
          "ICD10CM:Q80",
          "ICD9:757.1",
          "MEDGEN:797407",
          "MedDRA:10021202",
          "NANDO:1200609",
          "NANDO:2100283",
          "Orphanet:183435",
          "SCTID:13059002",
          "UMLS:C0856562"
        ],
        "synonyms": [
          "congenital ichthyosis of skin",
          "genetic ichthyosis",
          "hereditary ichthyosis (disease)",
          "inherited genetic ichthyosis",
          "congenital ichthyosis",
          "fish scale disease",
          "fish skin",
          "ichthyosis congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015947"
    },
    {
      "id": 18674,
      "label": "acquired ichthyosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19130
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000476",
          "ICD10CM:L85.0",
          "MEDGEN:78092",
          "MESH:C538175",
          "NCIT:C112831",
          "Orphanet:454",
          "SCTID:8691004",
          "UMLS:C0263386",
          "icd11.foundation:1504032289"
        ],
        "synonyms": [
          "acquired ichthyosis",
          "acquired ichthyosis (disease)",
          "ichthyosis acquisita",
          "fish scale disease, acquired",
          "ichthyosis, acquired"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018683"
    },
    {
      "id": 23120,
      "label": "ichthyosis, follicular",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19130
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002355",
          "MEDGEN:98025",
          "NANDO:1200628",
          "SCTID:238627002",
          "UMLS:C0406344"
        ],
        "synonyms": [
          "follicular ichthyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043094"
    }
  ],
  "roots": [
    {
      "id": 19129,
      "label": "epidermal disease"
    }
  ]
}