{
  "id": 19147,
  "label": "congenital non-bullous ichthyosiform erythroderma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019306",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 10668,
      "label": "autosomal recessive congenital ichthyosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17596,
        19147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060710",
          "GARD:0015187",
          "MEDGEN:854762",
          "NCIT:C132827",
          "OMIM:242100",
          "UMLS:C3888093"
        ],
        "synonyms": [
          "ARCI2",
          "autosomal recessive congenital ichthyosis type 2",
          "ichthyosis, congenital, autosomal recessive type 2",
          "NBCIE",
          "NCIE",
          "collodion baby, self-healing",
          "ichthyosiform erythroderma, Brocq congenital, nonbullous form",
          "ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly",
          "ichthyosiform erythroderma, congenital, nonbullous, 1",
          "ichthyosiform erythroderma, nonbullous congenital, 1",
          "ichthyosiform erythroderma, nonbullous congenital, 1, formerly",
          "ichthyosis, congenital, autosomal recessive 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009439"
    },
    {
      "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": 15019,
      "label": "autosomal recessive congenital ichthyosis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060716",
          "GARD:0015895",
          "MEDGEN:767262",
          "OMIM:615022",
          "UMLS:C3554348"
        ],
        "synonyms": [
          "ARCI7",
          "autosomal recessive congenital ichthyosis type 7",
          "ichthyosis, congenital, autosomal recessive 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014009"
    },
    {
      "id": 15020,
      "label": "autosomal recessive congenital ichthyosis 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060718",
          "GARD:0015896",
          "MEDGEN:767263",
          "OMIM:615023",
          "UMLS:C3554349"
        ],
        "synonyms": [
          "ARCI9",
          "autosomal recessive congenital ichthyosis 9",
          "autosomal recessive congenital ichthyosis type 9",
          "ichthyosis, congenital, autosomal recessive type 9",
          "ichthyosis, congenital, autosomal recessive 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CERS3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014010"
    },
    {
      "id": 15021,
      "label": "autosomal recessive congenital ichthyosis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060719",
          "GARD:0015897",
          "MEDGEN:767269",
          "OMIM:615024",
          "UMLS:C3554355"
        ],
        "synonyms": [
          "ARCI10",
          "autosomal recessive congenital ichthyosis type 10",
          "ichthyosis, congenital, autosomal recessive type 10",
          "ichthyosis, congenital, autosomal recessive 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014011"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17594,
      "label": "autosomal recessive congenital ichthyosis"
    }
  ]
}