{
  "id": 13887,
  "label": "autosomal recessive congenital ichthyosis 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012847",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 19147,
      "label": "congenital non-bullous ichthyosiform erythroderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1699",
          "GARD:0009736",
          "HP:0007431",
          "MEDGEN:38180",
          "NANDO:1200616",
          "NANDO:1200617",
          "Orphanet:79394",
          "SCTID:205550003",
          "UMLS:C0079154",
          "icd11.foundation:546439698"
        ],
        "synonyms": [
          "CIE",
          "alligator skin",
          "congenital ichthyosiform erythroderma",
          "congenital ichthyosiform erythroderma (disease)",
          "congenital non bullous ichthyosiform erythroderma",
          "erythrodermic ichthyosis",
          "ichthyosiform erythroderma",
          "non-bullous congenital ichthyosiform erythroderma",
          "nonbullous congenital ichthyosiform erythroderma",
          "lamellar desquamation of the newborn",
          "lamellar ichthyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body."
      },
      "child_count": 12,
      "reference_id": "MONDO:0019306"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18001,
      "label": "lamellar ichthyosis"
    },
    {
      "id": 19147,
      "label": "congenital non-bullous ichthyosiform erythroderma"
    }
  ]
}