Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

inherited hemoglobinopathy
Synonyms

hemoglobinopathy

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

closeMatch

http://identifiers.org/meddra/10060892

database_cross_reference

ICD10CM:D58.0

ICD10CM:D58.1

MESH:D006453

MedDRA:10060892

Orphanet:68364

SCTID:427306008

DOID:2860

GARD:18883

ICD9:282.7

NCIT:C3092

definition

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

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

has_exact_synonym

Hemoglobinopathies / iron metabolism

hereditary hemoglobinopathy

hemoglobinopathies

has_related_synonym

hemoglobinopathy

id

MONDO:0019050

in_subset

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

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

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

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

label

inherited hemoglobinopathy

notation

MONDO:0019050

preferred label

inherited hemoglobinopathy

prefLabel

inherited hemoglobinopathy

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

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

excluded_subClassOf

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

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