{
  "id": 17243,
  "label": "Meier-Gorlin syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016817",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "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": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    }
  ],
  "children": [
    {
      "id": 10387,
      "label": "Meier-Gorlin syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080512",
          "GARD:0015162",
          "ICD9:759.89",
          "MEDGEN:1641240",
          "OMIM:224690",
          "SCTID:703508009",
          "UMLS:C4552001"
        ],
        "synonyms": [
          "Meier-Gorlin syndrome 1",
          "Meier-Gorlin syndrome caused by mutation in ORC1",
          "Meier-Gorlin syndrome type 1",
          "ORC1 Meier-Gorlin syndrome",
          "Ear, patella, short stature syndrome",
          "MGORS1",
          "Meier-GORLIN syndrome 1",
          "Meier-Gorlin syndrome",
          "microtia, absent patellae, micrognathia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009143"
    },
    {
      "id": 14460,
      "label": "Meier-Gorlin syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080513",
          "GARD:0015708",
          "MEDGEN:462447",
          "OMIM:613800",
          "UMLS:C3151097"
        ],
        "synonyms": [
          "Meier-Gorlin syndrome 2",
          "Meier-Gorlin syndrome caused by mutation in ORC4",
          "Meier-Gorlin syndrome type 2",
          "ORC4 Meier-Gorlin syndrome",
          "MGORS2",
          "Meier-GORLIN syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013428"
    },
    {
      "id": 14462,
      "label": "Meier-Gorlin syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080514",
          "GARD:0015710",
          "MEDGEN:462463",
          "OMIM:613803",
          "UMLS:C3151113"
        ],
        "synonyms": [
          "Meier-Gorlin syndrome 3",
          "Meier-Gorlin syndrome caused by mutation in ORC6",
          "Meier-Gorlin syndrome type 3",
          "ORC6 Meier-Gorlin syndrome",
          "MGORS3",
          "Meier-GORLIN syndrome 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013430"
    },
    {
      "id": 14463,
      "label": "Meier-Gorlin syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080515",
          "GARD:0015711",
          "MEDGEN:462470",
          "OMIM:613804",
          "UMLS:C3151120"
        ],
        "synonyms": [
          "CDT1 Meier-Gorlin syndrome",
          "Meier-Gorlin syndrome 4",
          "Meier-Gorlin syndrome caused by mutation in CDT1",
          "Meier-Gorlin syndrome type 4",
          "MGORS4",
          "Meier-GORLIN syndrome 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013431"
    },
    {
      "id": 14464,
      "label": "Meier-Gorlin syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080516",
          "GARD:0015712",
          "MEDGEN:462476",
          "OMIM:613805",
          "UMLS:C3151126"
        ],
        "synonyms": [
          "CDC6 Meier-Gorlin syndrome",
          "Meier-Gorlin syndrome 5",
          "Meier-Gorlin syndrome caused by mutation in CDC6",
          "Meier-Gorlin syndrome type 5",
          "MGORS5",
          "Meier-GORLIN syndrome 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013432"
    },
    {
      "id": 15782,
      "label": "Meier-Gorlin syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080517",
          "GARD:0016163",
          "MEDGEN:905079",
          "OMIM:616835",
          "UMLS:C4225188"
        ],
        "synonyms": [
          "GMNN Meier-Gorlin syndrome",
          "MGORS6",
          "Meier-Gorlin syndrome 6",
          "Meier-Gorlin syndrome caused by mutation in GMNN",
          "Meier-Gorlin syndrome type 6",
          "Meier-GORLIN syndrome 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014794"
    },
    {
      "id": 15875,
      "label": "Meier-Gorlin syndrome 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014894"
    },
    {
      "id": 22609,
      "label": "Meier-Gorlin syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080255",
          "GARD:0025784",
          "MEDGEN:1390366",
          "OMIM:617564",
          "UMLS:C4479655"
        ],
        "synonyms": [
          "Meier-Gorlin syndrome 8",
          "MGORS8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033046"
    },
    {
      "id": 26409,
      "label": "Meier-Gorlin syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17243
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621512"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980992"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    }
  ]
}