GenEpiO / 基因组流行病学本体

Last uploaded: September 8, 2023
Preferred Name

inherited hemoglobinopathy

Synonyms

Hemoglobinopathies / iron metabolism

hereditary hemoglobinopathy

hemoglobinopathies

Definitions

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

ID

http://purl.obolibrary.org/obo/MONDO_0019050

database_cross_reference

MESH:D006453

GARD:0012455

DOID:2860

UMLS:C1960031

NCIT:C3092

Orphanet:68364

ICD10CM:D58.0

ICD10CM:D58.1

ICD9:282.7

UMLS:C0019045

SCTID:427306008

MedDRA:10060892

definition

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

has exact synonym

Hemoglobinopathies / iron metabolism

hereditary hemoglobinopathy

hemoglobinopathies

imported from

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

inSubset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#rare

http://purl.oboInOwllibrary.org/oboInOwl/mondo#orphanet_rare

http://purl.oboInOwllibrary.org/oboInOwl/mondo#mondo_rare

http://purl.oboInOwllibrary.org/oboInOwl/mondo#disease_grouping

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

inherited hemoglobinopathy

prefixIRI

MONDO:0019050

prefLabel

inherited hemoglobinopathy

subClassOf

http://purl.obolibrary.org/obo/MONDO_0044348

http://purl.obolibrary.org/obo/MONDO_0003847

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http://purl.obolibrary.org/obo/MONDO_0019050 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019050 Mondo Disease Ontology / Mondo疾病本体 SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019050 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0019050 Experimental Factor Ontology / 实验性因素本体 SAME_URI