{
  "id": 17595,
  "label": "keratinopathic ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017266",
  "properties": {
    "xrefs": [
      "GARD:0021107",
      "MEDGEN:1393111",
      "NANDO:1200610",
      "NANDO:2200987",
      "Orphanet:281103",
      "SCTID:724837004",
      "UMLS:C4511307",
      "icd11.foundation:992865924"
    ],
    "synonyms": [
      "KPI"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 8644,
      "label": "epidermolytic ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17595,
        23507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4603",
          "GARD:0024537",
          "MEDGEN:38179",
          "MESH:D017488",
          "NORD:1100",
          "OMIMPS:113800",
          "SCTID:254167000",
          "UMLS:C0079153",
          "icd11.foundation:1183730789"
        ],
        "synonyms": [
          "BCIE",
          "EHK",
          "EI",
          "bullous congenital ichthyosiform erythroderma",
          "bullous congenital ichthyosiform erythroderma of Brock",
          "bullous ichthyosis",
          "epidermolytic hyperkeratosis",
          "epidermolytic ichthyosis",
          "ichthyosis hystrix Brocq type",
          "autosomal dominant epidermolytic ichthyosis",
          "bullous erythroderma Ichthyosiformis congenita of Brocq",
          "bullous ichthyosiform erythroderma",
          "bullous ichthyosiform erythroderma congenita",
          "congenital bullous ichthyosiform erythroderma"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007239"
    },
    {
      "id": 9150,
      "label": "ichthyosis hystrix of Curth-Macklin",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17595,
        25509
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002954",
          "ICD9:757.39",
          "MEDGEN:326700",
          "MESH:C536088",
          "NORD:1281",
          "OMIM:146590",
          "Orphanet:79503",
          "SCTID:254170001",
          "UMLS:C1840296"
        ],
        "synonyms": [
          "Curth-Macklin type ichthyosis hystrix",
          "IHCM",
          "Ichthyosis Hystrix, Curth Macklin Type",
          "ichthyosis HYSTRIX, Curth-Macklin type",
          "ichthyosis histrix, curth-macklin type",
          "ichthyosis hystrix, Curth Macklin type",
          "ichthyosis hystrix, Curth-Macklin type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007808"
    },
    {
      "id": 9155,
      "label": "superficial epidermolytic ichthyosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17595,
        17656
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060877",
          "GARD:0002966",
          "MEDGEN:98153",
          "MESH:D053560",
          "NANDO:1200613",
          "NANDO:2200990",
          "NCIT:C84777",
          "OMIM:146800",
          "Orphanet:455",
          "SCTID:254169002",
          "UMLS:C0432306",
          "icd11.foundation:842172475"
        ],
        "synonyms": [
          "SEI",
          "ichthyosis bullosa of Siemens",
          "superficial epidermolytic ichthyosis",
          "IBS",
          "bullous type of ichthyosis",
          "ichthyosis exfoliativa",
          "ichthyosis, bullous type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007813"
    },
    {
      "id": 13269,
      "label": "congenital reticular ichthyosiform erythroderma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17595
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017305",
          "MEDGEN:777141",
          "MESH:C563781",
          "OMIM:609165",
          "Orphanet:281190",
          "SCTID:703504006",
          "UMLS:C3665704",
          "icd11.foundation:565254051"
        ],
        "synonyms": [
          "CRIE",
          "IWC",
          "ichthyosis variegata",
          "ichthyosis with confetti",
          "Aarau disease",
          "erythroderma, ichthyosiform, congenital reticular",
          "erythrokeratoderma, reticular"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012208"
    },
    {
      "id": 23382,
      "label": "epidermolytic nevus",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17595
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022016",
          "MEDGEN:724389",
          "Orphanet:497737",
          "SCTID:400142003",
          "UMLS:C1302848"
        ],
        "synonyms": [
          "Epidermal nevus with epidermolytic hyperkeratosis",
          "epidermolytic epidermal nevus",
          "epidermolytic verrucous epidermal nevus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044656"
    }
  ],
  "roots": [
    {
      "id": 16624,
      "label": "inherited ichthyosis"
    }
  ]
}