Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Omenn syndrome

Synonyms

Combined immunodeficiency with hypereosinophilia

Definitions

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

ID

http://www.orpha.net/ORDO/Orphanet_39041

alternative_term

Combined immunodeficiency with hypereosinophilia

definition

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041

has_age_of_onset

Infancy

Neonatal

has_inheritance

Autosomal recessive

hasDbXref

OMIM:603554

ICD-10:D81.8

MedDRA:10069097

UMLS:C2700553

ICD-11:4A01.10

label

Omenn syndrome

notation

ORPHA:39041

part_of

http://www.orpha.net/ORDO/Orphanet_480549

prefixIRI

ORDO:Orphanet_39041

prefLabel

Omenn syndrome

present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 25.0 (Case)

treeView

http://www.orpha.net/ORDO/Orphanet_480549

subClassOf

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

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

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_39041 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011338 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011338 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_2200697 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0060010 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_1200324 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C61240 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61240 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10452 HRDO LOOM
http://www.gamuts.net/entity#Omenn_syndrome GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0060010 NATPRO LOOM
http://id.nlm.nih.gov/mesh/D016511 MDM LOOM
http://purl.obolibrary.org/obo/MONDO_0011338 DOVES LOOM
http://purl.bioontology.org/ontology/OMIM/603554 OMIM LOOM
http://purl.obolibrary.org/obo/OMIM_603554 CCO LOOM
http://purl.obolibrary.org/obo/DOID_0060010 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060010 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060010 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060010 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060010 FNS-H LOOM
http://identifiers.org/omim/603554 REXO LOOM
http://identifiers.org/omim/603554 GEXO LOOM
http://identifiers.org/omim/603554 RETO LOOM
http://purl.jp/bio/4/id/201206047433831037 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10069097 MEDDRA LOOM
http://purl.obolibrary.org/obo/DERMO_0000729 DERMO LOOM
http://www.gamuts.net/entity#Omenn_syndrome GAMUTS REST