{
  "id": 24315,
  "label": "SLC26A2-related skeletal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100592",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 10354,
      "label": "diastrophic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        7171,
        18954,
        24315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14687",
          "GARD:0006275",
          "ICD10CM:Q77.5",
          "ICD9:756.89",
          "MEDGEN:113103",
          "MESH:C536170",
          "NCIT:C156311",
          "NORD:1051",
          "OMIM:222600",
          "Orphanet:628",
          "SCTID:58561002",
          "UMLS:C0220726",
          "icd11.foundation:1681550532"
        ],
        "synonyms": [
          "diastrophic dysplasia",
          "DD",
          "DTD",
          "diastrophic dwarfism",
          "diastrophic dysplasia, Broad bone-Platyspondylic variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009107"
    },
    {
      "id": 10432,
      "label": "multiple epiphyseal dysplasia type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        17117,
        18954,
        24315
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009189"
    },
    {
      "id": 10940,
      "label": "atelosteogenesis type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        2887,
        18954,
        24315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008329",
          "ICD9:756.9",
          "MEDGEN:338072",
          "MESH:C535395",
          "OMIM:256050",
          "Orphanet:56304",
          "SCTID:254055004",
          "UMLS:C1850554"
        ],
        "synonyms": [
          "AO2",
          "AOII",
          "atelosteogenesis type 2",
          "atelosteogenesis type II",
          "neonatal osseous dysplasia type 1",
          "De 50A Chapelle dysplasia",
          "De la Chapelle dysplasia",
          "atelosteogenesis II",
          "atelosteogenesis, type 2",
          "atelosteogenesis, type II",
          "neonatal osseous dysplasia 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009727"
    },
    {
      "id": 12095,
      "label": "achondrogenesis type IB",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        18954,
        19438,
        24315
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080055",
          "GARD:0000460",
          "MEDGEN:78547",
          "OMIM:600972",
          "Orphanet:93298",
          "UMLS:C0265274"
        ],
        "synonyms": [
          "achondrogenesis Ib",
          "achondrogenesis type IB",
          "achondrogenesis, Parenti-Fraccaro type",
          "ACG1B",
          "Fraccaro achondrogenesis",
          "achondrogenesis type 1B",
          "achondrogenesis, Fraccaro type",
          "achondrogenesis, type 1B",
          "achondrogenesis, type IB"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010966"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}