{
  "id": 10432,
  "label": "multiple epiphyseal dysplasia type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009189",
  "properties": {
    "xrefs": [
      "DOID:0070300",
      "GARD:0009793",
      "MEDGEN:376164",
      "MESH:C535504",
      "NORD:1881",
      "OMIM:226900",
      "Orphanet:93307",
      "SCTID:715672007",
      "UMLS:C1847593",
      "icd11.foundation:1927114777"
    ],
    "synonyms": [
      "EDM4",
      "MED4",
      "Polyepiphyseal dysplasia type 4",
      "Recessive Multiple Epiphyseal Dysplasia",
      "SLC26A2 multiple epiphyseal dysplasia (disease)",
      "autosomal recessive multiple epiphyseal dysplasia",
      "epiphyseal dysplasia, multiple, type 4",
      "multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2",
      "rMED",
      "epiphyseal dysplasia multiple 4",
      "epiphyseal dysplasia, multiple, 4",
      "multiple epiphyseal dysplasia 4",
      "multiple epiphyseal dysplasia with Bilayered patellae",
      "multiple epiphyseal dysplasia with clubfoot",
      "multiple epiphyseal dysplasia with double-layered patella",
      "multiple epiphyseal dysplasia, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2777,
      "label": "mineral metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009556",
          "ICD10CM:E83",
          "ICD9:275.8",
          "ICD9:275.9",
          "MEDGEN:509562",
          "SCTID:45744005",
          "UMLS:C0154260"
        ],
        "synonyms": [
          "disease of mineral metabolism",
          "disorder of mineral metabolism"
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0000226"
    },
    {
      "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": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "id": 24315,
      "label": "SLC26A2-related skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal disorder in which the cause of the disease is a variant in the SLC26A2 gene. This includes SLC26A2-related achondrogenesis, SLC26A2-related atelosteogenesis, SLC26A2-related diastrophic dysplasia, and SLC26A2-related multiple epiphyseal dysplasia."
      },
      "child_count": 4,
      "reference_id": "MONDO:0100592"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2777,
      "label": "mineral metabolism disease"
    },
    {
      "id": 17117,
      "label": "multiple epiphyseal dysplasia"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 24315,
      "label": "SLC26A2-related skeletal dysplasia"
    }
  ]
}