CERVICAL HYPERTRICHOSIS WITH UNDERLYING KYPHOSCOLIOSIS
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
HYPERTRICHOSIS, POSTERIOR CERVICAL, WITH UNDERLYING KYPHOSCOLIOSIS
|
|
Number of Symptoms
|
8
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
117850
|
|
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:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
2
|
(HPO:0004532)
|
Sacral hypertrichosis |
|
|
|
|
1 / 7739
|
|
3
|
(HPO:0011913)
|
Lumbar hypertrichosis |
|
|
|
|
1 / 7739
|
|
4
|
(HPO:0011914)
|
Thoracic hypertrichosis |
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0004535)
|
Anterior cervical hypertrichosis |
|
|
|
|
3 / 7739
|
|
6
|
(OMIM)
|
Underlying kyphoscoliosis |
|
|
|
|
1 / 7739
|
|
7
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
8
|
(OMIM)
|
Sacral, lumbar, or thoracic localized hypertrichosis |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |