Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

inherited hemoglobinopathy
Synonyms

hemoglobinopathy

hereditary hemoglobinopathy

hemoglobinopathies

Hemoglobinopathies / iron metabolism

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

SCTID:427306008

Orphanet:68364

NCIT:C3092

ICD10CM:D58.0

MedDRA:10060892

GARD:18883

ICD9:282.7

ICD10CM:D58.1

DOID:2860

MESH:D006453

definition

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

has_exact_synonym

hereditary hemoglobinopathy

hemoglobinopathies

Hemoglobinopathies / iron metabolism

has_related_synonym

hemoglobinopathy

id

MONDO:0019050

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

label

inherited hemoglobinopathy

notation

MONDO:0019050

prefLabel

inherited hemoglobinopathy

skos_closeMatch

http://identifiers.org/meddra/10060892

skos_exactMatch

http://identifiers.org/snomedct/427306008

http://identifiers.org/mesh/D006453

http://purl.obolibrary.org/obo/Orphanet_68364

http://purl.obolibrary.org/obo/NCIT_C3092

http://purl.obolibrary.org/obo/DOID_2860

treeView

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

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

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0003689

subClassOf

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

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

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