Preferred Name

Penoscrotal transposition

ID

http://www.orpha.net/ORDO/Orphanet_2842

definition

A rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842

has_age_of_onset

Neonatal

Infancy

has_inheritance

X-linked recessive

Autosomal recessive

Not applicable

hasDbXref

UMLS:C1868854

ICD-10:Q55.8

ICD-11:LB5Y

MedDRA:10067287

MeSH:C536650

label

Penoscrotal transposition

notation

ORPHA:2842

part_of

http://www.orpha.net/ORDO/Orphanet_182121

prefixIRI

ORDO:Orphanet_2842

prefLabel

Penoscrotal transposition

present_in

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_182121

subClassOf

http://www.orpha.net/ORDO/Orphanet_377791

http://www.orpha.net/ORDO/Orphanet_557493

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99010 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/HP_0100600 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0017285 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C536650 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU070024 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM