Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

hereditary persistence of fetal hemoglobin
Synonyms

HPFH - Hereditary persistence of foetal haemoglobin

HPFH - Hereditary persistence of fetal hemoglobin

Hereditary persistence of fetal hemoglobin

Hereditary Persistence of Foetal Haemoglobin

HEMOGLOBIN F DIS

Hb F disease

Hereditary persistence of foetal haemoglobin

Hereditary Persistence of Fetal Hemoglobin

Hemoglobin F Disease

Disease, Haemoglobin F

Haemoglobin F Disease

Disease, Hemoglobin F

hereditary persistence of fetal hemoglobin

Definitions

The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.

ID

http://purl.obolibrary.org/obo/MONDO_0020989

database_cross_reference

UMLS:C0019025

ICD9:282.7

MEDGEN:5495

NCIT:C129072

SCTID:191201002

definition

The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.

has_exact_synonym

hereditary persistence of fetal hemoglobin

has_related_synonym

HPFH - Hereditary persistence of foetal haemoglobin

HPFH - Hereditary persistence of fetal hemoglobin

Hereditary persistence of fetal hemoglobin

Hereditary Persistence of Foetal Haemoglobin

HEMOGLOBIN F DIS

Hb F disease

Hereditary persistence of foetal haemoglobin

Hereditary Persistence of Fetal Hemoglobin

Hemoglobin F Disease

Disease, Haemoglobin F

Haemoglobin F Disease

Disease, Hemoglobin F

id

MONDO:0020989

in_subset

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

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

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

label

hereditary persistence of fetal hemoglobin

notation

MONDO:0020989

prefLabel

hereditary persistence of fetal hemoglobin

skos_exactMatch

http://identifiers.org/snomedct/191201002

http://identifiers.org/medgen/5495

http://linkedlifedata.com/resource/umls/id/C0019025

http://purl.obolibrary.org/obo/NCIT_C129072

treeView

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

subClassOf

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

Delete Subject Author Type Created
No notes to display