{
  "id": 16130,
  "label": "digitotalar dysmorphism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015240",
  "properties": {
    "xrefs": [
      "DOID:0111596",
      "GARD:0000787",
      "MESH:C565097",
      "Orphanet:1146",
      "icd11.foundation:1679749810"
    ],
    "synonyms": [
      "DA1",
      "arthrogryposis multiplex congenita distal type 1",
      "digitotalar dysmorphism",
      "distal arthrogryposis type 1",
      "distal arthrogryposis type 1A (sub-type)",
      "distal arthrogryposis type 1B (sub-type)",
      "AMCD1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": 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": [
    {
      "id": 8564,
      "label": "arthrogryposis, distal, type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16130
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111597",
          "GARD:0024527",
          "MEDGEN:113099",
          "OMIM:108120",
          "SCTID:715314008",
          "UMLS:C0220662"
        ],
        "synonyms": [
          "arthrogryposis multiplex congenita",
          "AMC",
          "DA1A",
          "arthrogryposis, distal, type 1A",
          "arthrogryposis multiplex congenita, distal, type 1",
          "arthrogryposis, distal, type 1",
          "arthrogryposis, distal, type 2B4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007157"
    },
    {
      "id": 8847,
      "label": "digitotalar dysmorphism; ulnar drift, hereditary",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16130
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015059",
          "MEDGEN:342156",
          "OMIM:126050",
          "UMLS:C1852085"
        ],
        "synonyms": [
          "digitotalar dysmorphism",
          "ulnar drift, hereditary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007458"
    },
    {
      "id": 14720,
      "label": "arthrogryposis, distal, type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16130
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111598",
          "GARD:0015790",
          "MEDGEN:482156",
          "OMIM:614335",
          "UMLS:C3280526"
        ],
        "synonyms": [
          "arthrogryposis, distal, type 1B",
          "DA1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013698"
    }
  ],
  "roots": [
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 19660,
      "label": "distal arthrogryposis"
    }
  ]
}