{
  "id": 17594,
  "label": "autosomal recessive congenital ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017265",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 16624,
      "label": "inherited ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19130,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020261",
          "ICD10CM:Q80",
          "ICD9:757.1",
          "MEDGEN:797407",
          "MedDRA:10021202",
          "NANDO:1200609",
          "NANDO:2100283",
          "Orphanet:183435",
          "SCTID:13059002",
          "UMLS:C0856562"
        ],
        "synonyms": [
          "congenital ichthyosis of skin",
          "genetic ichthyosis",
          "hereditary ichthyosis (disease)",
          "inherited genetic ichthyosis",
          "congenital ichthyosis",
          "fish scale disease",
          "fish skin",
          "ichthyosis congenita"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome."
      },
      "child_count": 26,
      "reference_id": "MONDO:0015947"
    }
  ],
  "children": [
    {
      "id": 10670,
      "label": "autosomal recessive congenital ichthyosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060656",
          "GARD:0003170",
          "MEDGEN:1635401",
          "MESH:D017490",
          "OMIM:242300",
          "UMLS:C4551630"
        ],
        "synonyms": [
          "ARCI1",
          "autosomal recessive congenital ichthyosis 1",
          "autosomal recessive congenital ichthyosis type 1",
          "ichthyosis, congenital, autosomal recessive type 1",
          "LI1",
          "collodion baby, self-healing",
          "collodion fetus",
          "collodion foetus",
          "desquamation of newborn",
          "ichthyosis congenita",
          "ichthyosis congenita 2",
          "ichthyosis lamellar 1",
          "ichthyosis, congenital, autosomal recessive 1",
          "ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution",
          "ichthyosis, lamellar, 1",
          "ichthyosis, lamellar, 1, formerly",
          "lamellar exfoliation of newborn",
          "lamellar ichthyosis, type 1"
        ],
        "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 TGM1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009441"
    },
    {
      "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": 12339,
      "label": "autosomal recessive congenital ichthyosis 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060720",
          "GARD:0010116",
          "MEDGEN:332073",
          "MESH:C536273",
          "OMIM:602400",
          "Orphanet:91132",
          "UMLS:C1835851"
        ],
        "synonyms": [
          "IFAH syndrome",
          "IHS",
          "autosomal recessive congenital ichthyosis 11",
          "autosomal recessive congenital ichthyosis type 11",
          "hypotrichosis-congenital ichthyosis syndrome",
          "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis",
          "ichthyosis, congenital, autosomal recessive type 11",
          "ichthyosis-follicular atrophoderma-hypotrichosis syndrome",
          "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome",
          "ichthyosis-hypotrichosis syndrome",
          "ARCI11",
          "ARIH",
          "ichthyosis with hypotrichosis, autosomal recessive",
          "ichthyosis, congenital, autosomal recessive 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011218"
    },
    {
      "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": 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"
    },
    {
      "id": 15994,
      "label": "ichthyosis, congenital, autosomal recessive 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025052",
          "MEDGEN:934588",
          "OMIM:617320",
          "UMLS:C4310621"
        ],
        "synonyms": [
          "ARCI12",
          "ichthyosis, congenital, autosomal recessive 12",
          "ichthyosis, congenital, autosomal recessive 12; ARCI12",
          "ichthyosis, congenital, autosomal recessive type 12"
        ],
        "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 CASP14 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015018"
    },
    {
      "id": 16054,
      "label": "bathing suit ichthyosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016938",
          "MEDGEN:1386460",
          "Orphanet:100976",
          "SCTID:725588002",
          "UMLS:C4511230",
          "icd11.foundation:174005370"
        ],
        "synonyms": [
          "BSI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015085"
    },
    {
      "id": 17596,
      "label": "self-healing collodion baby",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017303",
          "MEDGEN:383772",
          "MESH:C565473",
          "Orphanet:281122",
          "SCTID:718632004",
          "UMLS:C1855789",
          "icd11.foundation:34721911"
        ],
        "synonyms": [
          "SHCB",
          "SICI",
          "self-improving congenital ichthyosis",
          "self-improving collodion baby"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017267"
    },
    {
      "id": 17597,
      "label": "acral self-healing collodion baby",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021108",
          "MEDGEN:930993",
          "Orphanet:281127",
          "SCTID:718633009",
          "UMLS:C4305324",
          "icd11.foundation:897773833"
        ],
        "synonyms": [
          "acral SHCB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017268"
    },
    {
      "id": 17656,
      "label": "exfoliative ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017329",
          "MEDGEN:325027",
          "Orphanet:289586",
          "UMLS:C1838440"
        ],
        "synonyms": [
          "autosomal recessive exfoliative ichthyosis",
          "exfoliative ichthyosis",
          "ichthyosis exfoliativa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017339"
    },
    {
      "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"
    },
    {
      "id": 22611,
      "label": "ichthyosis, congenital, autosomal recessive 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080258",
          "GARD:0016471",
          "MEDGEN:1620129",
          "OMIM:617571",
          "UMLS:C4539754"
        ],
        "synonyms": [
          "ichthyosis, congenital, autosomal recessive 14",
          "ARCI14",
          "autosomal recessive congenital ichthyosis 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033091"
    },
    {
      "id": 22612,
      "label": "ichthyosis, congenital, autosomal recessive 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080257",
          "GARD:0025785",
          "MEDGEN:1620886",
          "OMIM:617574",
          "UMLS:C4539772"
        ],
        "synonyms": [
          "ichthyosis, congenital, autosomal recessive 13",
          "ARCI13",
          "autosomal recessive congenital ichthyosis 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033092"
    }
  ],
  "roots": [
    {
      "id": 16624,
      "label": "inherited ichthyosis"
    }
  ]
}