{
  "id": 9028,
  "label": "hypotrichosis-lymphedema-telangiectasia syndrome (grouping)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007670",
  "properties": {
    "xrefs": [
      "GARD:0012827",
      "Orphanet:69735"
    ],
    "synonyms": [
      "hypotrichosis lymphedema telangiectasia syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 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": [
    {
      "id": 12988,
      "label": "hypotrichosis-lymphedema-telangiectasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9028,
        19154
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111361",
          "GARD:0015420",
          "MEDGEN:375070",
          "MESH:C564327",
          "OMIM:607823",
          "UMLS:C1843004"
        ],
        "synonyms": [
          "hypotrichosis-lymphedema-telangiectasia syndrome",
          "HLTS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011914"
    },
    {
      "id": 18965,
      "label": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9028,
        19154
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111360",
          "GARD:0002492",
          "MEDGEN:1373459",
          "MESH:C536825",
          "OMIM:137940",
          "UMLS:C4317151"
        ],
        "synonyms": [
          "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome",
          "HLTRS",
          "glomerulonephritis with sparse hair and telangiectases",
          "telangiectatic membranoproliferative glomerulonephritis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019073"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19049,
      "label": "primary lymphedema"
    }
  ]
}