PSEUDOHERMAPHRODITISM, INCOMPLETE MALE, TYPE I
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
5
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
312100
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
X-linked inheritance
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0008656)
|
Incomplete male pseudohermaphroditism |
|
|
|
|
1 / 7739
|
|
2
|
(HPO:0000771)
|
Gynecomastia |
|
|
|
|
53 / 7739
|
|
3
|
(HPO:0003492)
|
High urinary gonadotropin level |
|
|
|
|
2 / 7739
|
|
4
|
(HPO:0003335)
|
Low gonadotropins (secondary hypogonadism) |
|
|
|
|
3 / 7739
|
|
5
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |