{
  "id": 21691,
  "label": "Wieacker-Wolff syndrome (spectrum)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0025445",
  "properties": {
    "xrefs": [
      "GARD:0025477",
      "OMIMPS:314580"
    ],
    "synonyms": [
      "ZARD",
      "ZC4H2-associated disorder",
      "ZC4H2-associated rare disorders"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16094,
      "label": "arthrogryposis multiplex congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16118
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080954",
          "GARD:0000777",
          "ICD10CM:Q74.3",
          "MEDGEN:1830310",
          "MedDRA:10051643",
          "NORD:810",
          "OMIMPS:617468",
          "Orphanet:1037",
          "UMLS:C5779613",
          "icd11.foundation:1930990330"
        ],
        "synonyms": [
          "AMC",
          "Arthromyodysplasia congenita",
          "arthrogryposis multiplex congenita",
          "congenital arthromyodysplasia",
          "multiple congenital arthrogryposis",
          "myodysplasia",
          "Guerin-Stern syndrome",
          "Guérin-Stern syndrome",
          "Otto syndrome",
          "Rossi syndrome",
          "amyoplasia congenita",
          "congenital amyoplasia",
          "fibrous ankylosis of multiple joints",
          "myodystrophia fetalis deformans",
          "rocher-Sheldon syndrome"
        ],
        "definition": "Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures."
      },
      "child_count": 48,
      "reference_id": "MONDO:0015168"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [
    {
      "id": 11898,
      "label": "Wieacker-Wolff syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        21691,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060815",
          "GARD:0007890",
          "MEDGEN:163227",
          "MESH:C536703",
          "MESH:C537472",
          "NORD:91159",
          "OMIM:314580",
          "Orphanet:3454",
          "Orphanet:85283",
          "SCTID:719012009",
          "SCTID:722456001",
          "UMLS:C0796200"
        ],
        "synonyms": [
          "MCS",
          "MRXS4",
          "Miles-CARPENTER X-linked mental retardation syndrome",
          "Miles-Carpenter syndrome",
          "WRWF",
          "WRWFXLR",
          "Wieacker Wolff syndrome",
          "Wieacker syndrome",
          "Wieacker-Wolff syndrome",
          "Wieacker-Wolff syndrome, X-linked",
          "Wieacker-Wolff syndrome, X-linked recessive",
          "X-linked intellectual disability, Miles-Carpenter type",
          "ZC4H2-Associated Rare Disorders (ZARD)",
          "apraxia, oculomotor, with congenital contractures and muscle atrophy",
          "contractures of feet, muscle atrophy, and oculomotor apraxia",
          "foot contractures-muscle atrophy-oculomotor apraxia syndrome",
          "intellectual disability-developmental delay-contractures syndrome",
          "mental retardation, X-linked, syndromic 4",
          "mental retardation, X-linked, with congenital contractures and Low fingertip arches",
          "mental retardation, X-linked, with congenital contractures and low fingertip arches"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010758"
    },
    {
      "id": 21739,
      "label": "Wieacker-Wolff syndrome, female-restricted",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        21691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061015",
          "GARD:0025489",
          "MEDGEN:1715791",
          "OMIM:301041",
          "UMLS:C5393303"
        ],
        "synonyms": [
          "Wieacker-Wolff syndrome, female-restricted, X-linked dominant",
          "WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED",
          "WRWFFR"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0026762"
    }
  ],
  "roots": [
    {
      "id": 16094,
      "label": "arthrogryposis multiplex congenita"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}