{
  "id": 11769,
  "label": "recessive X-linked ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010622",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    },
    {
      "id": 19117,
      "label": "sterol metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        23508
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018981",
          "MEDGEN:1842986",
          "Orphanet:79226",
          "UMLS:C5681277"
        ],
        "synonyms": [
          "inborn error of sterol metabolic process",
          "inborn sterol metabolic process disorder",
          "rare inborn error of sterol metabolic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of sterol metabolic process."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019256"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080012",
          "MEDGEN:1798083",
          "UMLS:C5566660"
        ],
        "definition": "X-linked recessive form of disease."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020605"
    }
  ],
  "children": [
    {
      "id": 11401,
      "label": "ichthyosis, X-linked, without steroid sulfatase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11769
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010223"
    }
  ],
  "roots": [
    {
      "id": 16624,
      "label": "inherited ichthyosis"
    },
    {
      "id": 19117,
      "label": "sterol metabolism disorder"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease"
    }
  ]
}