{
  "id": 10224,
  "label": "Aagenaes syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008966",
  "properties": {
    "xrefs": [
      "DOID:6691",
      "GARD:0000370",
      "ICD9:576.8",
      "MEDGEN:78658",
      "MESH:C535330",
      "NCIT:C35709",
      "OMIM:214900",
      "Orphanet:1414",
      "SCTID:28724005",
      "UMLS:C0268314"
    ],
    "synonyms": [
      "Aagenaes syndrome",
      "Chls",
      "LCS",
      "LCS1",
      "cholestasis lymphedema syndrome",
      "cholestasis-lymphedema syndrome",
      "lymphedema cholestasis syndrome",
      "lymphedema-cholestasis syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life."
  },
  "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": 6878,
      "label": "liver disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4586,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:409",
          "EFO:0001421",
          "ICD10CM:K70-K77",
          "ICD9:573.8",
          "ICD9:573.9",
          "MEDGEN:893061",
          "MESH:D008107",
          "NCIT:C3196",
          "SCTID:235856003",
          "UMLS:C4021780",
          "icd11.foundation:1784240230"
        ],
        "synonyms": [
          "disease of liver",
          "disease or disorder of liver",
          "disorder of liver",
          "hepatic disease",
          "hepatic disorder",
          "liver and intrahepatic bile duct disorder",
          "liver disease",
          "liver disease or disorder",
          "liver disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the liver."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005154"
    },
    {
      "id": 19049,
      "label": "primary lymphedema",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19145
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018932",
          "MEDGEN:1804666",
          "NANDO:2201031",
          "NCIT:C48829",
          "Orphanet:77240",
          "UMLS:C5576443",
          "icd11.foundation:794588197"
        ],
        "synonyms": [
          "Troncular lymphatic malformation",
          "primary lymphedema"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection."
      },
      "child_count": 13,
      "reference_id": "MONDO:0019175"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6878,
      "label": "liver disorder"
    },
    {
      "id": 19049,
      "label": "primary lymphedema"
    }
  ]
}