Preferred Name | HYPOSPADIAS 1, X-LINKED | |
Synonyms |
HYSP1 |
|
ID |
http://purl.bioontology.org/ontology/OMIM/300633 |
|
altLabel |
HYSP1 |
|
cui |
C2678098 |
|
Gene Locus |
Xq11-q12 |
|
Gene Symbol |
SBMA DHTR TFM SMAX1 HYSP1 AR KD |
|
Has manifestation | ||
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
notation |
300633 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
HYPOSPADIAS 1, X-LINKED |
|
Scope Statement |
Caused by mutation in the androgen receptor gene (AR, 313700.0020) [MOLECULAR BASIS] See also autosomal form, 146450, and another X-linked form, 300758 [MISCELLANEOUS] |
|
tui |
T047 |
Create mapping