{
  "id": 10668,
  "label": "autosomal recessive congenital ichthyosis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009439",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 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": 17596,
      "label": "self-healing collodion baby"
    },
    {
      "id": 19147,
      "label": "congenital non-bullous ichthyosiform erythroderma"
    }
  ]
}