{
  "id": 16624,
  "label": "inherited ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015947",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 19130,
      "label": "ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1697",
          "GARD:0018985",
          "HP:0008064",
          "MEDGEN:7002",
          "MESH:D007057",
          "MedDRA:10021198",
          "NANDO:1200618",
          "NCIT:C84776",
          "Orphanet:79354",
          "UMLS:C0020757"
        ],
        "synonyms": [
          "DOC",
          "disorder of cornification",
          "fish scale disease",
          "fish skin disease",
          "ichthyosis",
          "ichthyosis (disease)",
          "non-syndromic ichthyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019269"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 10187,
      "label": "congenital cataract-ichthyosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001145",
          "MEDGEN:347122",
          "MESH:C538281",
          "OMIM:212400",
          "Orphanet:1376",
          "UMLS:C1859315"
        ],
        "synonyms": [
          "Syndermotic cataract and congenital ichthyosis",
          "cataract and congenital ichthyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008924"
    },
    {
      "id": 10947,
      "label": "Netherton syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7019,
        7611,
        16624,
        18207
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050474",
          "GARD:0007182",
          "MEDGEN:1802991",
          "MESH:D056770",
          "MedDRA:10062909",
          "NANDO:1200338",
          "NANDO:1200619",
          "NANDO:2200993",
          "NCIT:C84922",
          "NORD:1290",
          "OMIM:256500",
          "Orphanet:634",
          "SCTID:312514006",
          "UMLS:C5574950",
          "icd11.foundation:1797493665"
        ],
        "synonyms": [
          "Comèl-Netherton syndrome",
          "Ichthyosis, Netherton Syndrome",
          "NS",
          "Netherton syndrome",
          "bamboo hair syndrome",
          "Comel-Netherton syndrome",
          "Netherton disease",
          "erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE",
          "neth"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009735"
    },
    {
      "id": 11002,
      "label": "ichthyosis-oral and digital anomalies syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002960",
          "MEDGEN:342457",
          "MESH:C536272",
          "OMIM:258840",
          "Orphanet:2272",
          "UMLS:C1850268"
        ],
        "synonyms": [
          "Clayton Smith-Donnai syndrome",
          "ichthyosis tapered fingers midline groove up",
          "oral and digital anomalies with ichthyosis",
          "unusual facies, digital abnormalities, and ichthyosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009792"
    },
    {
      "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"
    },
    {
      "id": 12953,
      "label": "neonatal ichthyosis-sclerosing cholangitis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16624,
        18642
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010583",
          "MEDGEN:334382",
          "MESH:C564365",
          "OMIM:607626",
          "Orphanet:59303",
          "SCTID:724278007",
          "UMLS:C1843355"
        ],
        "synonyms": [
          "IHSC",
          "NISCH syndrome",
          "ichthyosis-hypotrichosis-sclerosing cholangitis syndrome",
          "neonatal ichthyosis-sclerosing cholangitis syndrome",
          "ILVASC",
          "Ilvasc",
          "Nisch syndrome",
          "ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis",
          "ichthyosis-sclerosing cholangitis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011874"
    },
    {
      "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": 17595,
      "label": "keratinopathic ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021107",
          "MEDGEN:1393111",
          "NANDO:1200610",
          "NANDO:2200987",
          "Orphanet:281103",
          "SCTID:724837004",
          "UMLS:C4511307",
          "icd11.foundation:992865924"
        ],
        "synonyms": [
          "KPI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017266"
    },
    {
      "id": 19185,
      "label": "peeling skin syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060283",
          "GARD:0007347",
          "ICD9:757.39",
          "MEDGEN:336530",
          "NORD:1562",
          "OMIMPS:270300",
          "Orphanet:817",
          "SCTID:239065004",
          "UMLS:C1849193",
          "icd11.foundation:523640904"
        ],
        "synonyms": [
          "PSS",
          "deciduous skin",
          "familial continuous skin peeling syndrome",
          "idiopathic deciduous skin",
          "keratosis exfoliativa congenita",
          "peeling skin disease",
          "familial continuous skin peeling",
          "skin peeling syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS."
      },
      "child_count": 5,
      "reference_id": "MONDO:0019347"
    },
    {
      "id": 21337,
      "label": "ichthyosis vulgaris",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006752",
          "MEDGEN:38217",
          "MESH:D016112",
          "NCIT:C84778",
          "UMLS:C0079584",
          "icd11.foundation:841161884"
        ],
        "synonyms": [
          "ichthyosis vulgaris",
          "common ichthyosis",
          "fish scale disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin."
      },
      "child_count": 1,
      "reference_id": "MONDO:0024304"
    },
    {
      "id": 23125,
      "label": "ichthyosis linearis circumflexa",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002967",
          "MEDGEN:78578",
          "SCTID:54336006",
          "UMLS:C0265962"
        ],
        "synonyms": [
          "ichthyosis linearis circumflexa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043106"
    },
    {
      "id": 23953,
      "label": "IFAP syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002952",
          "MEDGEN:327007",
          "OMIMPS:308205",
          "Orphanet:2273",
          "UMLS:C1839988"
        ],
        "synonyms": [
          "IFAP syndrome",
          "ichthyosis follicularis-alopecia-photophobia syndrome",
          "ichthyosis follicularis-atrichia-photophobia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0100212"
    },
    {
      "id": 25509,
      "label": "ichthyosis hystrix",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026728",
          "MEDGEN:75527",
          "OMIMPS:146590",
          "UMLS:C0263580"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0859383"
    },
    {
      "id": 25739,
      "label": "ichthyosis with erythrokeratoderma",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026872",
          "MEDGEN:1852819",
          "OMIM:620507",
          "UMLS:C5882691"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957783"
    }
  ],
  "roots": [
    {
      "id": 19130,
      "label": "ichthyosis"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}