{
  "id": 2733,
  "label": "geleophysic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000127",
  "properties": {
    "xrefs": [
      "DOID:0111724",
      "GARD:0002449",
      "ICD9:759.89",
      "MEDGEN:483679",
      "MedDRA:10063361",
      "OMIMPS:231050",
      "Orphanet:2623",
      "SCTID:28557005",
      "UMLS:C3489726",
      "icd11.foundation:518828851"
    ],
    "synonyms": [
      "geleophysic dwarfism",
      "geleophysic dwarfism syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as \"happy'')."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19473,
      "label": "acromelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019194",
          "MEDGEN:1843369",
          "Orphanet:93436",
          "UMLS:C4736195",
          "icd11.foundation:177141175"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0019695"
    }
  ],
  "children": [
    {
      "id": 10510,
      "label": "geleophysic dysplasia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111725",
          "GARD:0015172",
          "MEDGEN:479777",
          "OMIM:231050",
          "UMLS:C3278147"
        ],
        "synonyms": [
          "ADAMTSL2 geleophysic dysplasia",
          "Geleophysic dysplasia type 1",
          "geleophysic dysplasia 1",
          "geleophysic dysplasia caused by mutation in ADAMTSL2",
          "GELEOPHYSIC dysplasia 1",
          "GPHYSD1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009269"
    },
    {
      "id": 14638,
      "label": "geleophysic dysplasia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111726",
          "GARD:0015768",
          "MEDGEN:481684",
          "OMIM:614185",
          "UMLS:C3280054"
        ],
        "synonyms": [
          "FBN1 geleophysic dysplasia",
          "Geleophysic dysplasia 2",
          "Geleophysic dysplasia type 2",
          "geleophysic dysplasia caused by mutation in FBN1",
          "GELEOPHYSIC dysplasia 2",
          "GPHYSD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013612"
    },
    {
      "id": 23591,
      "label": "geleophysic dysplasia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2733
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111727",
          "GARD:0016255",
          "MEDGEN:1615724",
          "OMIM:617809",
          "UMLS:C4540511"
        ],
        "synonyms": [
          "GELEOPHYSIC dysplasia 3",
          "GPHYSD3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054722"
    }
  ],
  "roots": [
    {
      "id": 19473,
      "label": "acromelic dysplasia"
    }
  ]
}