{
  "id": 12152,
  "label": "autosomal recessive congenital ichthyosis 4A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011026",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": [
    {
      "id": 10672,
      "label": "autosomal recessive congenital ichthyosis 4B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12152
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060713",
          "GARD:0006568",
          "MEDGEN:108615",
          "MedDRA:10019163",
          "NANDO:1200614",
          "NANDO:2200992",
          "NCIT:C98934",
          "NORD:1287",
          "OMIM:242500",
          "Orphanet:457",
          "SCTID:205548006",
          "UMLS:C0598226"
        ],
        "synonyms": [
          "ARCI4B",
          "HI",
          "Harlequin Ichthyosis",
          "autosomal recessive congenital ichthyosis type 4B",
          "harlequin ichthyosis",
          "hi",
          "ichthyosis , congenital, autosomal recessive 4b (harlequin)",
          "ichthyosis congenita, Harlequin type",
          "ichthyosis fetalis, Harlequin type",
          "ichthyosis, congenital, autosomal recessive type 4B",
          "'Harlequin fetus'",
          "Harlequin fetus",
          "Harlequin foetus",
          "ichthyosis congenita, Harlequin fetus type",
          "ichthyosis congenita, Harlequin foetus type",
          "ichthyosis, congenital, autosomal recessive 4B"
        ],
        "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": "Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009443"
    }
  ],
  "roots": [
    {
      "id": 17594,
      "label": "autosomal recessive congenital ichthyosis"
    },
    {
      "id": 18001,
      "label": "lamellar ichthyosis"
    }
  ]
}