{
  "id": 18102,
  "label": "autosomal recessive myogenic arthrogryposis multiplex congenita",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017892",
  "properties": {
    "xrefs": [
      "GARD:0017447",
      "MEDGEN:1647450",
      "Orphanet:319332",
      "SCTID:764812008",
      "UMLS:C4707155"
    ],
    "synonyms": [
      "SYNE1-related AMC",
      "SYNE1-related arthrogryposis multiplex congenita",
      "autosomal recessive myogenic AMC"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 19667,
      "label": "congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050557",
          "GARD:0009138",
          "ICD9:359.0",
          "MEDGEN:147063",
          "Orphanet:97242",
          "SCTID:240059009",
          "UMLS:C0699743",
          "icd11.foundation:396687076"
        ],
        "synonyms": [
          "CMD",
          "MDC",
          "congenital MD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."
      },
      "child_count": 46,
      "reference_id": "MONDO:0019950"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16094,
      "label": "arthrogryposis multiplex congenita"
    },
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    }
  ]
}