{
  "id": 11401,
  "label": "ichthyosis, X-linked, without steroid sulfatase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010223",
  "properties": {
    "xrefs": [
      "GARD:0015250",
      "MEDGEN:341213",
      "MESH:C564729",
      "OMIM:300001",
      "UMLS:C1848387"
    ],
    "synonyms": [
      "ichthyosis, X-linked, without steroid sulfatase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11769,
      "label": "recessive X-linked ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624,
        19117,
        20040
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:27",
          "DOID:1700",
          "GARD:0007904",
          "ICD10CM:Q80.1",
          "MEDGEN:86937",
          "MedDRA:10048063",
          "NANDO:1200625",
          "NCIT:C84779",
          "NORD:1293",
          "OMIM:308100",
          "Orphanet:461",
          "SCTID:3944006",
          "UMLS:C0079588",
          "icd11.foundation:1466487054"
        ],
        "synonyms": [
          "Ichthyosis, X Linked",
          "RXLI",
          "X-linked ichthyosis",
          "X-linked recessive ichthyosis",
          "XLI",
          "ichthyosis (disease), X-linked",
          "ichthyosis , X-linked, X-linked recessive",
          "recessive X-linked ichthyosis",
          "steroid sulfatase deficiency",
          "SSDD",
          "STS deficiency",
          "X linked ichthyosis",
          "ichthyosis, X-linked",
          "ichthyosis, X-linked, complicated",
          "placental steroid sulfatase deficiency",
          "steroid sulfatase deficiency disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin."
      },
      "child_count": 3,
      "reference_id": "MONDO:0010622"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11769,
      "label": "recessive X-linked ichthyosis"
    }
  ]
}