Preferred Name

hemoglobin H disease

Synonyms

HbH disease

hemoglobin H disease, deletional and nondeletional

hemoglobin H disease, deletional

Alpha-thalassemia intermedia

alpha-thalassemia intermedia

alpha thalassemia, hemoglobin H type

HbH

hemoglobin H disease

HEMOGLOBIN H disease

Hemoglobin H disease, Nondeletional

Hemoglobin H disease, Deletional

Alpha-thalassemia, Hemoglobin H type

Definitions

Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.

ID

http://purl.obolibrary.org/obo/MONDO_0013512

disease has feature

http://purl.obolibrary.org/obo/MONDO_0019844

has_exact_synonym

HbH disease

hemoglobin H disease, deletional and nondeletional

hemoglobin H disease, deletional

Alpha-thalassemia intermedia

alpha-thalassemia intermedia

alpha thalassemia, hemoglobin H type

HbH

hemoglobin H disease

has_related_synonym

HEMOGLOBIN H disease

Hemoglobin H disease, Nondeletional

Hemoglobin H disease, Deletional

Alpha-thalassemia, Hemoglobin H type

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

label

hemoglobin H disease

prefixIRI

MONDO:0013512

prefLabel

hemoglobin H disease

textual definition

Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0011399

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0013512 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0013512 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0013512 KTAO 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://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 KTAO LOOM
http://purl.bioontology.org/ontology/SNMI/DC-13860 SNMI LOOM