{
  "id": 12264,
  "label": "Ehlers-Danlos syndrome, musculocontractural type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011142",
  "properties": {
    "xrefs": [
      "GARD:0008486",
      "MEDGEN:356497",
      "MESH:C000600608",
      "NANDO:1200652",
      "NANDO:2201262",
      "Orphanet:2953",
      "SCTID:720860004",
      "UMLS:C1866294"
    ],
    "synonyms": [
      "ATCS",
      "CHST14-related EDS",
      "CHST14-related Ehlers-Danlos syndrome",
      "D4ST1-deficient EDS",
      "D4ST1-deficient Ehlers-Danlos syndrome",
      "EDS, Kosho type",
      "EDS, arthrogryposic type",
      "EDS, musculocontractural type",
      "Ehlers-Danlos syndrome, Kosho type",
      "Ehlers-Danlos syndrome, arthrogryposic type",
      "MCEDS",
      "adducted thumb-clubfoot syndrome",
      "adducted thumbs-arthrogryposis syndrome, Dundar type",
      "musculocontractural Ehlers-Danlos syndrome",
      "Dundar syndrome",
      "EDS6B, formerly",
      "EDSMC",
      "EDSMC1",
      "EDSmc",
      "Ehlers-Danlos syndrome, musculocontractural type 1",
      "Ehlers-Danlos syndrome, musculocontractural type, 1",
      "Ehlers-Danlos syndrome, type VIB, formerly",
      "Ehlers-Danlos syndrome, type Vib",
      "Ehlers-Danlos syndrome, type Vib, formerly",
      "adducted thumb clubfoot syndrome",
      "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome",
      "adducted thumb-club foot syndrome",
      "adducted thumbs Dundar type",
      "arthrogryposis, distal, with peculiar facies and hydronephrosis",
      "autosomal recessive adducted thumb-club foot syndrome",
      "musculocontractural EDS"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16168,
      "label": "congenital disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5212",
          "GARD:0010307",
          "ICD9:271.8",
          "MEDGEN:76469",
          "MESH:D018981",
          "NCIT:C84615",
          "Orphanet:137",
          "SCTID:238049009",
          "UMLS:C0282577"
        ],
        "synonyms": [
          "CDG",
          "carbohydrate deficient glycoprotein syndrome",
          "carbohydrate-deficient glycoprotein syndrome",
          "congenital disorder of glycosylation",
          "carbohydrate-deficient glycoprotein syndromes",
          "congenital disorders of glycosylation"
        ],
        "definition": "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation."
      },
      "child_count": 25,
      "reference_id": "MONDO:0015286"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5798,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050646",
          "GARD:0000786",
          "MEDGEN:120512",
          "OMIMPS:108120",
          "Orphanet:97120",
          "SCTID:24269006",
          "UMLS:C0265213",
          "icd11.foundation:1265239690"
        ],
        "synonyms": [
          "arthrogryposis multiplex congenita distal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A muscle tissue disease characterized by congenital joint contractures of hand and feet."
      },
      "child_count": 69,
      "reference_id": "MONDO:0019942"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13359",
          "GARD:0006322",
          "ICD10CM:Q79.6",
          "ICD9:756.83",
          "MEDGEN:41720",
          "MESH:D004535",
          "MedDRA:10014316",
          "NANDO:1200645",
          "NANDO:2200607",
          "NCIT:C34568",
          "NORD:1080",
          "OMIMPS:130000",
          "Orphanet:98249",
          "SCTID:398114001",
          "UMLS:C0013720",
          "icd11.foundation:1122707206"
        ],
        "synonyms": [
          "Danlos Disease, Ehlers",
          "Danlos disease",
          "Disease, Ehlers Danlos",
          "Disease, Ehlers-Danlos",
          "Dystrophia mesodermalis congenita",
          "EDS",
          "Ehler Danlos Syndrome",
          "Ehlers Danlos Disease",
          "Ehlers Danlos Syndrome",
          "Ehlers Danlos syndrome",
          "Ehlers-Danlos Disease",
          "Ehlers-Danlos syndromes",
          "Fibrodysplasia elastica generalisata",
          "Hereditary collagen dysplasia",
          "Meekeren-Ehlers-Danlos syndrome",
          "Syndrome, Ehlers-Danlos",
          "danlos ehlers syndrome",
          "elastic skin",
          "skin elastic",
          "ED syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility."
      },
      "child_count": 75,
      "reference_id": "MONDO:0020066"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [
    {
      "id": 15242,
      "label": "Ehlers-Danlos syndrome, musculocontractural type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12264
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080735",
          "DOID:0080737",
          "GARD:0015982",
          "MEDGEN:816175",
          "OMIM:615539",
          "UMLS:C3809845"
        ],
        "synonyms": [
          "DSE Ehlers-Danlos syndrome, musculocontractural type",
          "Ehlers-Danlos syndrome, musculocontractural type 2",
          "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE",
          "EDSMC2",
          "Ehlers-Danlos syndrome, musculocontractural type, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014236"
    },
    {
      "id": 20090,
      "label": "Ehlers-Danlos syndrome, musculocontractural type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12264
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080736",
          "GARD:0025208",
          "NCIT:C168975",
          "OMIM:601776"
        ],
        "synonyms": [
          "Arthrogryposis, Distal, with peculiar facies and hydronephrosis",
          "Dundar syndrome",
          "EDSMC",
          "EDSMC1",
          "Ehlers-Danlos syndrome, musculocontractural type, 1",
          "Ehlers-Danlos syndrome, type Vib",
          "Ehlers-Danlos syndrome, type Vib, formerly",
          "adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome",
          "adducted thumb-clubfoot syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020681"
    }
  ],
  "roots": [
    {
      "id": 16168,
      "label": "congenital disorder of glycosylation"
    },
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}