Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Rotor syndrome

Synonyms

Hyperbilirubinemia, Rotor type

Definitions

A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.

ID

http://www.orpha.net/ORDO/Orphanet_3111

alternative_term

Hyperbilirubinemia, Rotor type

definition

A benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

hasDbXref

ICD-11:5C58.0Y

ICD-10:E80.6

MedDRA:10039234

OMIM:237450

UMLS:C0220991

label

Rotor syndrome

notation

ORPHA:3111

part_of

http://www.orpha.net/ORDO/Orphanet_309816

http://www.orpha.net/ORDO/Orphanet_101940

prefixIRI

ORDO:Orphanet_3111

prefLabel

Rotor syndrome

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 50.0 (Case)

treeView

http://www.orpha.net/ORDO/Orphanet_309816

http://www.orpha.net/ORDO/Orphanet_101940

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

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

Delete Subject Author Type Created
No notes to display