Sickle Cell Disease Ontology

Last uploaded: May 6, 2021

Preferred Name	Hemoglobin H Disease
Synonyms	Hb H-Disease Alpha-Thalassemia Intermedia Haemoglobin H Disease
Definitions	A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia.
ID	http://purl.obolibrary.org/obo/NCIT_C95504
database cross reference	NCIT:C95504
definition	A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia.
definition source	http://bioportal.bioontology.org/ontologies/NCIT/?p=classes&conceptid=http%3A%2F%2Fncicb.nci.nih.gov%2Fxml%2Fowl%2FEVS%2FThesaurus.owl%23C95504
diagnosed using tool	http://purl.obolibrary.org/obo/SCDO_0003894 http://purl.obolibrary.org/obo/SCDO_0000547
existence in other ontologies	Sufficient
has manifestation	http://purl.obolibrary.org/obo/HP_0004870
has mode of inheritance	http://purl.obolibrary.org/obo/HP_0000007
hasExactSynonym	Hb H-Disease Alpha-Thalassemia Intermedia Haemoglobin H Disease
modified by	http://purl.obolibrary.org/obo/SCDO_0000114
prefixIRI	NCIT:C95504
prefLabel	Hemoglobin H Disease
previous identifier	SCDO:0000534
rdfs:label	Hemoglobin H Disease
treated with	http://purl.obolibrary.org/obo/NCIT_C258 http://purl.obolibrary.org/obo/SCDO_0008888 http://purl.obolibrary.org/obo/SCDO_0000147
subClassOf	http://purl.obolibrary.org/obo/SCDO_0000042

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/NCIT_C95504	BERO	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	GEXO	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://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