Tracheobronchopathia osteochondroplastica
General Information (adopted from Orphanet):
Synonyms, Signs: |
TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA Tracheopathia osteoplastica |
Number of Symptoms | 13 |
OrphanetNr: | 3348 |
OMIM Id: |
189961
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ICD-10: |
J98.0 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Unknown [Orphanet] |
Age of onset: |
Childhood Adult Elderly [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare pulmonary disease
-Rare respiratory disease |
Symptom Information:
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(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
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(HPO:0002105) | Hemoptysis | 30 / 7739 | ||||
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(HPO:0006532) | Recurrent pneumonia | 48 / 7739 | ||||
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(HPO:0001609) | Hoarse voice | 34 / 7739 | ||||
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(HPO:0002094) | Dyspnea | 132 / 7739 | ||||
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(MedDRA:10047924) | Wheezing | 8 / 7739 | ||||
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(MedDRA:10006440) | Bronchial obstruction | 2 / 7739 | ||||
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(OMIM) | Cartilaginous/bony projections into tracheobronchial lumen | 1 / 7739 | ||||
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(OMIM) | Beaded calcification of tracheobronchial cartilages by CT | 1 / 7739 | ||||
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([DEL]MedDRA:10011224) | Cough | 70 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0012735) | Cough | 24 / 7739 | ||||
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(OMIM) | Tracheopathia osteoplastica | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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