THORACIC DYSOSTOSIS, ISOLATED

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 187750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000773) Short ribs 70 / 7739
2
(HPO:0001591) Bell-shaped thorax 35 / 7739
3
(HPO:0000767) Pectus excavatum 244 / 7739
4
(HPO:0002205) Recurrent respiratory infections 254 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Short deformed ribs 1 / 7739
7
(OMIM) Repeated respiratory illnesses 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: