THORACOPELVIC DYSOSTOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 187770
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:0004322) Short stature 1232 / 7739
3
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
4
 (OMIM) Small pelvic sciatic notches 1 / 7739
5
 (OMIM) Restricted heart-shaped pelvic inlet 1 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: