{
  "id": 18001,
  "label": "lamellar ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017778",
  "properties": {
    "xrefs": [
      "GARD:0010803",
      "ICD10CM:Q80.2",
      "MEDGEN:1852191",
      "MedDRA:10023686",
      "NANDO:1200617",
      "NCIT:C84805",
      "NORD:1289",
      "Orphanet:313",
      "UMLS:C5848247",
      "icd11.foundation:600146417"
    ],
    "synonyms": [
      "LI",
      "classic lamellar ichthyosis",
      "congenital lamellar ichthyosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 9154,
      "label": "ichthyosis, lamellar, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009735",
          "MEDGEN:98486",
          "MESH:C537263",
          "OMIM:146750",
          "SCTID:254164007",
          "UMLS:C0432304"
        ],
        "synonyms": [
          "ichthyosis, lamellar, autosomal dominant",
          "ichthyosis lamellar, autosomal dominant",
          "lamellar ichthyosis, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007812"
    },
    {
      "id": 12152,
      "label": "autosomal recessive congenital ichthyosis 4A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17594,
        18001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060712",
          "GARD:0009733",
          "MEDGEN:371355",
          "MESH:C537264",
          "OMIM:601277",
          "UMLS:C1832550"
        ],
        "synonyms": [
          "ARCI4A",
          "ICR2B",
          "autosomal recessive congenital ichthyosis type 4A",
          "ichthyosis, congenital, autosomal recessive type 4A",
          "LI2",
          "ichthyosis congenita 2B",
          "ichthyosis lamellar 2",
          "ichthyosis, congenital, autosomal recessive 4A",
          "ichthyosis, lamellar, 2",
          "ichthyosis, lamellar, 2, formerly",
          "lamellar ichthyosis, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011026"
    },
    {
      "id": 12587,
      "label": "autosomal recessive congenital ichthyosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594,
        18001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060714",
          "GARD:0009734",
          "MEDGEN:347628",
          "MESH:C537265",
          "OMIM:604777",
          "UMLS:C1858133"
        ],
        "synonyms": [
          "ARCI5",
          "autosomal recessive congenital ichthyosis 5",
          "autosomal recessive congenital ichthyosis type 5",
          "ichthyosis, congenital, autosomal recessive type 5",
          "LI3, formerly",
          "NNCI",
          "ichthyosis congenita 3",
          "ichthyosis congenita III",
          "ichthyosis lamellar 3",
          "ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive",
          "ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive",
          "ichthyosis, congenital, autosomal recessive 5",
          "ichthyosis, lamellar, 3",
          "ichthyosis, lamellar, 3, formerly",
          "lamellar ichthyosis, type 3",
          "type 3 lamellar ichthyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011485"
    },
    {
      "id": 12770,
      "label": "autosomal recessive congenital ichthyosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17596,
        18001,
        19147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060711",
          "GARD:0015393",
          "MEDGEN:761665",
          "MESH:C564699",
          "OMIM:606545",
          "UMLS:C3539888"
        ],
        "synonyms": [
          "ARCI3",
          "autosomal recessive congenital ichthyosis type 3",
          "ichthyosis, congenital, autosomal recessive type 3",
          "collodion baby, self-healing",
          "ichthyosis, congenital, autosomal recessive 3",
          "ichthyosis, lamellar, 5",
          "ichthyosis, lamellar, 5, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011680"
    },
    {
      "id": 13887,
      "label": "autosomal recessive congenital ichthyosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18001,
        19147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060715",
          "GARD:0015547",
          "MEDGEN:436851",
          "OMIM:612281",
          "UMLS:C2677065"
        ],
        "synonyms": [
          "ARCI6",
          "autosomal recessive congenital ichthyosis type 6",
          "ichthyosis, congenital, autosomal recessive type 6",
          "ichthyosis, congenital, autosomal recessive 6",
          "ichthyosis, congenital, autosomal recessive, Nipal4-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012847"
    },
    {
      "id": 14525,
      "label": "autosomal recessive congenital ichthyosis 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594,
        18001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060717",
          "GARD:0016457",
          "MEDGEN:765943",
          "OMIM:613943",
          "UMLS:C3553029"
        ],
        "synonyms": [
          "ARCI8",
          "autosomal recessive congenital ichthyosis type 8",
          "ichthyosis, congenital, autosomal recessive type 8",
          "ichthyosis, congenital, autosomal recessive 8",
          "ichthyosis, lamellar, 4",
          "ichthyosis, lamellar, 4, formerly",
          "lamellar ichthyosis, late-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013495"
    }
  ],
  "roots": [
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}