{
  "id": 15875,
  "label": "Meier-Gorlin syndrome 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014894",
  "properties": {
    "xrefs": [
      "DOID:0080518",
      "GARD:0016181",
      "MEDGEN:934705",
      "OMIM:617063",
      "UMLS:C4310738"
    ],
    "synonyms": [
      "CDC45 Meier-Gorlin syndrome",
      "MGORS7",
      "Meier-Gorlin syndrome 7",
      "Meier-Gorlin syndrome 7; MGORS7",
      "Meier-Gorlin syndrome caused by mutation in CDC45",
      "Meier-Gorlin syndrome type 7"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17243,
      "label": "Meier-Gorlin syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16088
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060306",
          "GARD:0002033",
          "MEDGEN:401501",
          "MESH:C538012",
          "MedDRA:10070612",
          "NORD:1077",
          "OMIMPS:224690",
          "Orphanet:2554",
          "UMLS:C1868684"
        ],
        "synonyms": [
          "Meier-Gorlin syndrome",
          "ear-patella-short stature syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure)."
      },
      "child_count": 27,
      "reference_id": "MONDO:0016817"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17243,
      "label": "Meier-Gorlin syndrome"
    }
  ]
}