Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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

http://purl.bioontology.org/ontology/OMIM/MTHU038083

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

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