{
  "id": 21472,
  "label": "Zimmermann-Laband syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024526",
  "properties": {
    "xrefs": [
      "GARD:0015071",
      "MEDGEN:1639277",
      "NORD:1344",
      "OMIM:135500",
      "UMLS:C4551773"
    ],
    "synonyms": [
      "KCNH1 Zimmermann-Laband syndrome",
      "Laband Syndrome",
      "ZLS1",
      "Zimmermann-Laband syndrome 1",
      "Zimmermann-Laband syndrome caused by mutation in KCNH1",
      "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2766,
      "label": "Zimmermann-Laband syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000385",
          "ICD9:759.89",
          "MEDGEN:208656",
          "MESH:C536725",
          "OMIMPS:135500",
          "Orphanet:3473",
          "SCTID:699447001",
          "UMLS:C0796013",
          "icd11.foundation:8285962"
        ],
        "synonyms": [
          "Laband syndrome",
          "ZLS",
          "Zimmerman Laband syndrome",
          "Zimmermann-Laband syndrome type 1",
          "gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome",
          "Laband-Zimmermann syndrome",
          "ZLS1",
          "Zimmermann-Laband syndrome 1",
          "fibromatosis gingival, hepatosplenomegaly other anomalies",
          "gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly"
        ],
        "definition": "A rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet."
      },
      "child_count": 3,
      "reference_id": "MONDO:0000200"
    },
    {
      "id": 24211,
      "label": "KCNH1 associated disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027274"
        ],
        "synonyms": [
          "KCNH1 related disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neurodevelopmental disorder in which the cause of the disease is a mutation in the KCNH1 gene. Variants in KCNH1 cause significant neurodevelopmental disabilities that lie along a phenotypic spectrum ranging from non-syndromic to syndromic. The most common phenotypes associated with variants in KCNH1 include intellectual disability, seizures, hypotonia, absence or hypoplasia of nails, and gingival enlargement. Hypoplastic terminal phalanges of fingers and toes, proximal placement and long thumb, and long toes present less frequently."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100485"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2766,
      "label": "Zimmermann-Laband syndrome"
    },
    {
      "id": 24211,
      "label": "KCNH1 associated disorder"
    }
  ]
}