Gene Expression Ontology

Last uploaded: December 16, 2015
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Preferred Name

Hemoglobin H disease
Synonyms

HBH
Definitions

(HBH) - A form of alpha- thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence.
ID

http://identifiers.org/omim/613978
altLabel

HBH
definition

(HBH) - A form of alpha- thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence.
id

OMIM:613978
notation

OMIM:613978
prefLabel

Hemoglobin H disease
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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http://identifiers.org/omim/613978 REXO SAME_URI
http://identifiers.org/omim/613978 RETO SAME_URI
http://purl.obolibrary.org/obo/DOID_0110031 DOID LOOM
rgo:29644 GAMUTS LOOM
rgo:29644 GAMUTS LOOM
http://purl.obolibrary.org/obo/MONDO_0013512 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0013512 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0110031 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0110031 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0110031 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0110031 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hemoglobin_H_Disease CSEO LOOM
http://purl.bioontology.org/ontology/OMIM/613978 OMIM LOOM
http://www.orpha.net/ORDO/Orphanet_93616 ORDO LOOM
http://purl.jp/bio/4/id/200906086712974778 IOBC LOOM
http://purl.obolibrary.org/obo/OMIM_613978 CCO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/48553001 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10063435 MEDDRA LOOM
http://identifiers.org/omim/613978 REXO LOOM
http://identifiers.org/omim/613978 RETO LOOM
http://www.gamuts.net/entity#hemoglobin_H_disease GAMUTS LOOM
http://purl.obolibrary.org/obo/NCIT_C95504 BERO LOOM
http://purl.obolibrary.org/obo/NCIT_C95504 SCDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12449 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95504 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0013512 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0013512 KTAO LOOM
http://purl.bioontology.org/ontology/SNMI/DC-13860 SNMI LOOM