{
  "id": 8565,
  "label": "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007158",
  "properties": {
    "xrefs": [
      "DOID:0111608",
      "GARD:0004047",
      "MEDGEN:350678",
      "OMIM:108145",
      "Orphanet:1154",
      "SCTID:715217004",
      "UMLS:C1862472"
    ],
    "synonyms": [
      "arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome",
      "distal arthrogryposis type 5",
      "distal arthrogryposis type IIB",
      "distal arthrogryposis with ophthalmoplegia",
      "oculomelic amyoplasia",
      "Arthogryposis with oculomotor limitation and electroretinal abnormalities",
      "DA5",
      "arthrogryposis ophthalmoplegia retinopathy",
      "arthrogryposis with oculomotor limitation and electroretinal abnormalities",
      "arthrogryposis, distal, type 2B",
      "arthrogryposis, distal, type 5",
      "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19660,
      "label": "distal arthrogryposis"
    }
  ]
}