Preferred Name

Hemoglobinopathy

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3092

ALT_DEFINITION

Normal or abnormal findings related to the structural alterations of a globin chain within the hemoglobin molecule.

An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.

code

C3092

Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158520

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156952

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C158035

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C167409

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C132009

Contributing_Source

ACC/AHA

CPTAC

NICHD

DEFINITION

An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.

FULL_SYN

Hemoglobinopathies / Iron Metabolism

Hemoglobinopathy

label

Hemoglobinopathy

Legacy Concept Name

Hemoglobinopathy

Preferred_Name

Hemoglobinopathy

prefixIRI

Thesaurus:C3092

prefLabel

Hemoglobinopathy

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0019045

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104003

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http://purl.obolibrary.org/obo/DOID_2860 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_2860 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0044348 GenEpiO / 基因组流行病学本体 LOOM
http://www.orpha.net/ORDO/Orphanet_68364 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM