{
  "id": 12288,
  "label": "lymphedema-atrial septal defects-facial changes syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011166",
  "properties": {
    "xrefs": [
      "GARD:0000284",
      "MEDGEN:383042",
      "MESH:C535539",
      "MESH:C567398",
      "OMIM:601927",
      "Orphanet:86915",
      "SCTID:721978002",
      "UMLS:C2677167"
    ],
    "synonyms": [
      "Irons-Bhan syndrome",
      "Irons-Bianchi syndrome",
      "Irons Bhan syndrome",
      "autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes",
      "lymphedema, CARDIAC septal defects, and characteristic facies",
      "lymphedema, atrial septal defect, and characteristic facial changes",
      "lymphedema, atrial septal defect, and characteristic facies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Lymphedema-atrial septal defects-facial changes syndrome is characterized by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive."
  },
  "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": 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": 19049,
      "label": "primary lymphedema"
    }
  ]
}