DISTAL OSTEOSCLEROSIS
General Information (adopted from Orphanet):
Synonyms, Signs: |
OSTEOSCLEROSIS, DISTAL |
Number of Symptoms | 5 |
OrphanetNr: | |
OMIM Id: |
126250
|
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:
|
(HPO:0005464) | Craniofacial osteosclerosis | 3 / 7739 | ||||
|
(HPO:0003034) | Diaphyseal sclerosis | 10 / 7739 | ||||
|
(OMIM) | Mild cranial sclerosis | 1 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(OMIM) | Hyperostosis mainly in forearms and lower legs | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|