{
  "id": 17598,
  "label": "X-linked ichthyosis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017269",
  "properties": {
    "xrefs": [
      "GARD:0021109",
      "MedDRA:10048063",
      "Orphanet:281210"
    ],
    "synonyms": [
      "X-linked inherited ichthyosis syndromic form",
      "inherited ichthyosis syndromic form, X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "X-linked form of inherited ichthyosis syndromic form."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4198,
      "label": "integumentary system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:16",
          "EFO:0010285",
          "MEDGEN:712400",
          "SCTID:128598002",
          "UMLS:C1290011"
        ],
        "synonyms": [
          "disease of integumental system",
          "disease or disorder of integumental system",
          "disorder of integumental system",
          "integumental system disease",
          "integumental system disease or disorder",
          "integumentary disease",
          "disorder of integument"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the integumental system."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002051"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    }
  ],
  "children": [
    {
      "id": 11768,
      "label": "CHILD syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3036,
        6801,
        16089,
        16607,
        17598,
        19104,
        19476,
        21247,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111822",
          "GARD:0006039",
          "ICD9:759.89",
          "MEDGEN:82697",
          "MESH:C562515",
          "NANDO:1200629",
          "NANDO:2200998",
          "NANDO:2201358",
          "NORD:1284",
          "OMIM:308050",
          "Orphanet:139",
          "SCTID:17608003",
          "UMLS:C0265267"
        ],
        "synonyms": [
          "CHILD syndrome",
          "CHILD syndrome, X-linked dominant",
          "Ichthyosis, CHILD Syndrome",
          "child nevus",
          "child syndrome",
          "congenital hemidysplasia with ichthyosiform erythroderma and limb defects",
          "congenital hemidysplasia with ichthyosiform nevus and limb defects",
          "ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs",
          "ichthyosis, child syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010621"
    },
    {
      "id": 17593,
      "label": "syndromic recessive X-linked ichthyosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        17598
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017302",
          "MEDGEN:904038",
          "Orphanet:281090",
          "SCTID:717041008",
          "UMLS:C4274085"
        ],
        "synonyms": [
          "recessive X-linked ichthyosis with extracutaneous manifestations",
          "syndrome associated with recessive X-linked ichthyosis",
          "syndromic RXLI",
          "syndromic X-linked ichthyosis",
          "syndromic recessive X-linked ichthyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017264"
    }
  ],
  "roots": [
    {
      "id": 4198,
      "label": "integumentary system disorder"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}