{
  "id": 10076,
  "label": "aplasia cutis congenita-intestinal lymphangiectasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008808",
  "properties": {
    "xrefs": [
      "GARD:0000753",
      "MEDGEN:349241",
      "MESH:C537788",
      "OMIM:207731",
      "Orphanet:1116",
      "SCTID:720500008",
      "UMLS:C1859753"
    ],
    "synonyms": [
      "Bronspiegel-Zelnick syndrome",
      "autosomal recessive aplasia cutis",
      "ACC with intestinal lymphangiectasia",
      "aplasia cutis congenita intestinal lymphangiectasia",
      "aplasia cutis congenita with intestinal lymphangiectasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985."
  },
  "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": 6756,
      "label": "intestinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5295",
          "EFO:0009431",
          "ICD9:520-579",
          "ICD9:560-569",
          "ICD9:564",
          "ICD9:564.4",
          "ICD9:569",
          "ICD9:569.4",
          "ICD9:569.49",
          "ICD9:569.89",
          "ICD9:569.9",
          "ICD9:570-579",
          "ICD9:575",
          "MEDGEN:7130",
          "MESH:D007410",
          "NCIT:C26801",
          "SCTID:85919009",
          "UMLS:C0021831"
        ],
        "synonyms": [
          "disease of intestine",
          "disease or disorder of intestine",
          "disorder of intestine",
          "intestinal disease",
          "intestinal disorder",
          "intestine disease",
          "intestine disease or disorder",
          "disease, intestinal",
          "diseases, intestinal"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the small or large intestine."
      },
      "child_count": 58,
      "reference_id": "MONDO:0005020"
    },
    {
      "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"
    },
    {
      "id": 19143,
      "label": "mixed dermis disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20387
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842502",
          "Orphanet:79380",
          "UMLS:C5681484"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019294"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6756,
      "label": "intestinal disorder"
    },
    {
      "id": 19049,
      "label": "primary lymphedema"
    },
    {
      "id": 19143,
      "label": "mixed dermis disorder"
    }
  ]
}