{
  "id": 14525,
  "label": "autosomal recessive congenital ichthyosis 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013495",
  "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."
  },
  "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"
    }
  ]
}