FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

Omenn syndrome
Synonyms
Definitions

A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
ID

http://purl.obolibrary.org/obo/DOID_0060010
definition

A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

Omenn syndrome
prefixIRI

DOID:0060010
prefLabel

Omenn syndrome
subClassOf

http://purl.obolibrary.org/obo/DOID_627
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http://purl.obolibrary.org/obo/DOID_0060010 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0060010 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_0060010 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0060010 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0060010 MIDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011338 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011338 EFO 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.obolibrary.org/obo/MONDO_0011338 EFO 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://nanbyodata.jp/ontology/NANDO_2200697 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0060010 DOID 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://identifiers.org/omim/603554 REXO LOOM
http://identifiers.org/omim/603554 GEXO LOOM
http://identifiers.org/omim/603554 RETO LOOM
http://nanbyodata.jp/ontology/NANDO_1200324 NANDO 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