BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

Diamond-Blackfan anemia
Synonyms

chronic constitutional pure red cell anaemia

Blackfan - Diamond syndrome

Definitions

A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. Xref MGI. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_1339

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D029503

OMIM:PS105650

SNOMEDCT_US_2020_03_01:188588001

ICD10CM:D61.01

GARD:6274

NCI:C61236

ORDO:124

has exact synonym

chronic constitutional pure red cell anaemia

Blackfan - Diamond syndrome

has_obo_namespace

disease_ontology

id

DOID:1339

imported from

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

label

Diamond-Blackfan anemia

notation

DOID:1339

prefLabel

Diamond-Blackfan anemia

textual definition

A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.

subClassOf

http://purl.obolibrary.org/obo/DOID_1342

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