BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Omenn syndrome

Synonyms

combined immunodeficiency with hypereosinophilia

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

database_cross_reference

OMIM:603554

ICD10CM:D81.8

GARD:8198

has exact synonym

combined immunodeficiency with hypereosinophilia

has_obo_namespace

disease_ontology

id

DOID:0060010

imported from

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

label

Omenn syndrome

notation

DOID:0060010

prefLabel

Omenn syndrome

textual 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.

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 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/DOID_0060010 FNS-H 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.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 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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: tissue-based format

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A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

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