{
  "id": 12587,
  "label": "autosomal recessive congenital ichthyosis 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011485",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17594,
      "label": "autosomal recessive congenital ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060655",
          "GARD:0021106",
          "MEDGEN:697564",
          "NANDO:1200615",
          "NANDO:2200991",
          "OMIMPS:242300",
          "Orphanet:281097",
          "UMLS:C1274215",
          "icd11.foundation:430849255"
        ],
        "synonyms": [
          "ARCI",
          "autosomal recessive inherited ichthyosis",
          "ichthyosis, congenital, autosomal recessive",
          "inherited ichthyosis, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Autosomal recessive form of inherited ichthyosis."
      },
      "child_count": 13,
      "reference_id": "MONDO:0017265"
    },
    {
      "id": 18001,
      "label": "lamellar ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019,
        23867
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0017778"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17594,
      "label": "autosomal recessive congenital ichthyosis"
    },
    {
      "id": 18001,
      "label": "lamellar ichthyosis"
    }
  ]
}