{
  "id": 12862,
  "label": "multiple epiphyseal dysplasia, Al-Gazali type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011778",
  "properties": {
    "xrefs": [
      "GARD:0017014",
      "MEDGEN:335505",
      "MESH:C564621",
      "OMIM:607131",
      "Orphanet:166024",
      "SCTID:719688002",
      "UMLS:C1846722",
      "icd11.foundation:1359939784"
    ],
    "synonyms": [
      "multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome",
      "AGBK",
      "AL-Gazali-BAKALINOVA syndrome",
      "Al-Gazali-Bakalinova syndrome",
      "Mmedf",
      "macrocephaly with multiple epiphyseal dysplasia and distinctive facies"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:12721",
          "GARD:0010756",
          "HP:0002654",
          "ICD9:756.56",
          "MEDGEN:6461",
          "MedDRA:10028197",
          "NORD:1468",
          "OMIMPS:132400",
          "Orphanet:251",
          "SCTID:59708000",
          "UMLS:C0026760",
          "icd11.foundation:2009123831"
        ],
        "synonyms": [
          "Dominant Multiple Epiphyseal Dysplasia",
          "EDM",
          "MED",
          "Polyepiphyseal dysplasia",
          "multiple epiphyseal dysplasia",
          "multiple epiphyseal dysplasia (disease)",
          "polyepiphyseal dysplasia",
          "epiphyseal dysplasia, multiple"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6."
      },
      "child_count": 10,
      "reference_id": "MONDO:0016648"
    },
    {
      "id": 25049,
      "label": "KIF7-related ciliopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026564"
        ],
        "synonyms": [
          "KIF7-related ciliopathy"
        ],
        "definition": "A spectrum of ciliopathy disorders that typically show autosomal recessive inheritance and includes Al-Gazali-Bakalinova syndrome, hydrolethalus syndrome 2, acrocallosal syndrome, Joubert syndrome 12."
      },
      "child_count": 3,
      "reference_id": "MONDO:0800463"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia"
    },
    {
      "id": 25049,
      "label": "KIF7-related ciliopathy"
    }
  ]
}