{
  "id": 16814,
  "label": "hemimelia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016240",
  "properties": {
    "xrefs": [
      "GARD:0018761",
      "MEDGEN:9194",
      "MedDRA:10019464",
      "NCIT:C34674",
      "Orphanet:2130",
      "SCTID:33076008",
      "UMLS:C0018987"
    ],
    "synonyms": [
      "longitudinal meromelia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "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": 11326,
      "label": "tibial hemimelia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008707",
          "MEDGEN:120551",
          "MESH:C535563",
          "OMIM:275220",
          "Orphanet:93322",
          "SCTID:79177001",
          "UMLS:C0265633",
          "icd11.foundation:1111258427"
        ],
        "synonyms": [
          "congenital absence of tibia",
          "congenital aplasia and dysplasia of the tibia with intact fibula",
          "congenital longitudinal deficiency of the tibia",
          "tibial hemimelia",
          "tibial longitudinal meromelia",
          "Thm",
          "absence of tibia",
          "bilateral absence of the tibia",
          "tibia, absence of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010144"
    },
    {
      "id": 19456,
      "label": "ulnar hemimelia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019182",
          "ICD9:755.59",
          "MEDGEN:539346",
          "Orphanet:93320",
          "SCTID:21893008",
          "UMLS:C0265583",
          "icd11.foundation:1136383237"
        ],
        "synonyms": [
          "congenital longitudinal deficiency of the ulna",
          "ulnar clubhand",
          "ulnar longitudinal meromelia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019670"
    },
    {
      "id": 19457,
      "label": "radial hemimelia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000225",
          "ICD10CM:Q71.4",
          "ICD9:755.59",
          "MEDGEN:539344",
          "Orphanet:93321",
          "SCTID:48008009",
          "UMLS:C0265581",
          "icd11.foundation:653269137"
        ],
        "synonyms": [
          "congenital longitudinal deficiency of the radius",
          "radial clubhand",
          "radial longitidinal meromelia",
          "radial ray agenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019671"
    },
    {
      "id": 19458,
      "label": "fibular hemimelia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008659",
          "MEDGEN:539380",
          "Orphanet:93323",
          "UMLS:C0265634",
          "icd11.foundation:915482054"
        ],
        "synonyms": [
          "congenital longitudinal deficiency of the fibula",
          "fibular longitudinal meromelia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019672"
    },
    {
      "id": 25098,
      "label": "complete hemimelia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16814
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022033",
          "MEDGEN:1863414",
          "Orphanet:498491",
          "UMLS:C5925041"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850030"
    }
  ],
  "roots": [
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}