{
  "id": 10091,
  "label": "fetal akinesia deformation sequence",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008824",
  "properties": {
    "xrefs": [
      "DOID:0111375",
      "GARD:0009634",
      "ICD9:754.89",
      "MESH:C536647",
      "NCIT:C129071",
      "OMIMPS:208150",
      "SCTID:401138005"
    ],
    "synonyms": [
      "FADS",
      "fetal akinesia deformation sequence",
      "arthrogryposis multiplex congenita with pulmonary hypoplasia",
      "fetal akinesia sequence",
      "foetal akinesia sequence"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "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": 16618,
      "label": "thoracic malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19706
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842414",
          "NANDO:2201008",
          "Orphanet:182108",
          "UMLS:C5680597"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 15,
      "reference_id": "MONDO:0015929"
    }
  ],
  "children": [
    {
      "id": 11418,
      "label": "fetal akinesia syndrome, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10091
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081043",
          "GARD:0002293",
          "MEDGEN:341166",
          "MESH:C537921",
          "OMIM:300073",
          "UMLS:C1848171"
        ],
        "synonyms": [
          "fetal akinesia syndrome, X-linked",
          "X-linked form of fetal akinesia syndrome",
          "X-linked form of foetal akinesia syndrome",
          "fetal akinesia syndrome X-linked",
          "foetal akinesia syndrome X-linked",
          "polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010242"
    },
    {
      "id": 23852,
      "label": "fetal akinesia deformation sequence 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10091
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111377",
          "GARD:0026048",
          "MEDGEN:220903",
          "OMIM:208150",
          "Orphanet:994",
          "UMLS:C1276035"
        ],
        "synonyms": [
          "FADS1",
          "Pena-Shokeir syndrome type 1",
          "Pena-Shokeir syndrome, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100101"
    },
    {
      "id": 23853,
      "label": "fetal akinesia deformation sequence 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10091
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111378",
          "GARD:0016495",
          "MEDGEN:1678048",
          "OMIM:618388",
          "UMLS:C4760576"
        ],
        "synonyms": [
          "FADS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100102"
    },
    {
      "id": 23854,
      "label": "fetal akinesia deformation sequence 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10091
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111376",
          "GARD:0016496",
          "MEDGEN:1680087",
          "OMIM:618389",
          "UMLS:C4760599"
        ],
        "synonyms": [
          "FADS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100103"
    },
    {
      "id": 23855,
      "label": "fetal akinesia deformation sequence 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10091
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111379",
          "GARD:0016497",
          "MEDGEN:1675450",
          "OMIM:618393",
          "UMLS:C4760578"
        ],
        "synonyms": [
          "FADS4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100104"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 16094,
      "label": "arthrogryposis multiplex congenita"
    },
    {
      "id": 16618,
      "label": "thoracic malformation"
    }
  ]
}