Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Leprechaunism

Synonyms

Donohue syndrome

Definitions

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

ID

http://www.orpha.net/ORDO/Orphanet_508

alternative_term

Donohue syndrome

definition

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508

has_age_of_onset

Antenatal

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

ICD-10:E34.8

OMIM:246200

MedDRA:10081896

UMLS:C0265344

ICD-11:5A44

MeSH:D056731

label

Leprechaunism

notation

ORPHA:508

part_of

http://www.orpha.net/ORDO/Orphanet_181368

http://www.orpha.net/ORDO/Orphanet_139033

http://www.orpha.net/ORDO/Orphanet_79365

http://www.orpha.net/ORDO/Orphanet_363245

http://www.orpha.net/ORDO/Orphanet_102285

http://www.orpha.net/ORDO/Orphanet_330206

prefixIRI

ORDO:Orphanet_508

prefLabel

Leprechaunism

present_in

Europe AND has_birth_prevalence_range : <1 / 1 000 000

Europe AND has_point_prevalence_range : <1 / 1 000 000

treeView

http://www.orpha.net/ORDO/Orphanet_181368

http://www.orpha.net/ORDO/Orphanet_139033

http://www.orpha.net/ORDO/Orphanet_79365

http://www.orpha.net/ORDO/Orphanet_363245

http://www.orpha.net/ORDO/Orphanet_102285

http://www.orpha.net/ORDO/Orphanet_330206

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

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

Delete Subject Author Type Created
No notes to display