{
  "id": 12953,
  "label": "neonatal ichthyosis-sclerosing cholangitis syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011874",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "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": 18642,
      "label": "sclerosing cholangitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6556
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14268",
          "EFO:0004268",
          "GARD:0021868",
          "HP:0030991",
          "MEDGEN:3036",
          "NANDO:1200440",
          "NANDO:2100265",
          "NCIT:C4828",
          "Orphanet:447771",
          "SCTID:235917005",
          "UMLS:C0008313"
        ],
        "synonyms": [
          "Primary sclerosing cholangitis",
          "primary sclerosing cholangitis (PSC)",
          "sclerosing cholangitis",
          "sclerosing cholangitis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure."
      },
      "child_count": 5,
      "reference_id": "MONDO:0018646"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16624,
      "label": "inherited ichthyosis"
    },
    {
      "id": 18642,
      "label": "sclerosing cholangitis"
    }
  ]
}