{
  "id": 17734,
  "label": "humeral agenesis/hypoplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017440",
  "properties": {
    "xrefs": [
      "GARD:0021192",
      "MEDGEN:672328",
      "Orphanet:294973",
      "UMLS:C0685375",
      "icd11.foundation:1431381856"
    ],
    "synonyms": [
      "congenital absence of humerus",
      "congenital hypoplasia of humerus",
      "humeral intercalary meromelia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019210",
          "MEDGEN:1842256",
          "Orphanet:93457",
          "UMLS:C5680277"
        ],
        "synonyms": [
          "non-syndromic limb hypoplasia",
          "nonsyndromic limb reduction defect",
          "isolated limb reduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 40,
      "reference_id": "MONDO:0019713"
    }
  ],
  "children": [
    {
      "id": 17772,
      "label": "humeral agenesis/hypoplasia, unilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:295061"
        ],
        "synonyms": [
          "humeral intercalary meromelia, unilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017482"
    },
    {
      "id": 17773,
      "label": "humeral agenesis/hypoplasia, bilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:295063"
        ],
        "synonyms": [
          "humeral intercalary meromelia, bilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017483"
    }
  ],
  "roots": [
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}