Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

Diamond-Blackfan anemia
Synonyms
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].

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.

hasDbXref

OMIM:606129

ICD10CM:D61.01

SNOMEDCT_US_2016_03_01:188588001

OMIM:614900

OMIM:105650

SNOMEDCT_US_2016_03_01:191235004

OMIM:613309

UMLS_CUI:C1260899

OMIM:612528

OMIM:615550

OMIM:615909

MESH:D029503

NCI:C61236

OMIM:612527

SNOMEDCT_US_2016_03_01:88854002

OMIM:612562

OMIM:610629

SNOMEDCT_US_2016_03_01:234371002

OMIM:612563

OMIM:613308

ORDO:124

OMIM:612561

SNOMEDCT_US_2016_03_01:191239005

hasExactSynonym

Blackfan - Diamond syndrome

chronic constitutional pure red cell anaemia

hasOBONamespace

disease_ontology

id

DOID:1339

imported from

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

inSubset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Diamond-Blackfan anemia

prefixIRI

DOID:1339

prefLabel

Diamond-Blackfan anemia

subClassOf

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

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