SPINAL DYSPLASIA, ANHALT TYPE
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
11
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
601344
|
|
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.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0004268)
|
Osteoarthritis of the small joints of the hand |
|
|
|
|
2 / 7739
|
|
2
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
3
|
(HPO:0008464)
|
Absent spinous processes of lower thoracic and lumbar vertebrae |
|
|
|
|
1 / 7739
|
|
4
|
(HPO:0008467)
|
Thoracic hemivertebrae |
|
|
|
|
3 / 7739
|
|
5
|
(HPO:0002944)
|
Thoracolumbar scoliosis |
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0008423)
|
Spinal dysplasia |
|
|
|
|
1 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
8
|
(OMIM)
|
Flat vertebrae |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0008473)
|
Narrow anterio-posterior vertebral body diameter |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Arthritis of hands |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |