Preferred Name

Omenn syndrome

Synonyms

Omenn syndrome

combined immunodeficiency with hypereosinophilia

severe combined immunodeficiency with hypereosinophilia

reticuloendotheliosis, familial, with eosinophilia

reticuloendotheliosis familial with eosinophilia

Definitions

An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).

ID

http://purl.obolibrary.org/obo/MONDO_0011338

has_exact_synonym

Omenn syndrome

combined immunodeficiency with hypereosinophilia

has_related_synonym

severe combined immunodeficiency with hypereosinophilia

reticuloendotheliosis, familial, with eosinophilia

reticuloendotheliosis familial with eosinophilia

label

Omenn syndrome

prefixIRI

MONDO:0011338

prefLabel

Omenn syndrome

seeAlso

https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome

textual definition

An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).

subClassOf

http://purl.obolibrary.org/obo/MONDO_0017855

http://purl.obolibrary.org/obo/MONDO_0031520

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0011338 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011338 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://www.orpha.net/ORDO/Orphanet_39041 ORDO 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