GenTIGSA Gene Database on Rare Genetic Disorders
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Diamond-Blackfan Anemia  
Disease Aliases (72)

Aase syndrome

Aase-smith syndrome ii

Anemia, congenital erythroid hypoplastic

Anemia, congenital hypoplastic, of blackfan and diamond

Aregenerative anemia, chronic congenital

Aase-smith ii syndrome

Aase-smith syndrome 2

Anemia diamond blackfan type

Anemia and triphalangeal thumbs

Anemia congenital erythroid hypoplastic

Anemia, blackfan diamond

Anemia, diamond blackfan

Anemia, diamond blackfan type

Anemia, diamond-blackfan

Anemia, diamond-blackfan type

Anemia, hypoplastic congenital

Anemias, hypoplastic congenital

Aregenerative anemia chronic congenital

Bds

Blackfan-diamond syndrome

Blackfan - diamond syndrome

Blackfan diamond anemia

Blackfan diamond disease

Blackfan diamond syndrome

Blackfan-diamond disease

Blackfan-diamond anemia

Blackfan-diamond type

Chronic congenital agenerative anemia

Chronic constitutional pure red cell anemia

Chronic constitutional pure red cell aplasia

Congenital anemia, hypoplastic

Congenital anemias, hypoplastic

Congenital erythroid hypoplastic anemia

Congenital hypoplastic anemia of blackfan and diamond

Congenital prca

Congenital pure red cell anemia

Congenital pure red cell aplasia

Congenital anemia and triphalangeal thumbs

Congenital dyserythropoietic anaemia

Congenital hypoplastic anaemia

Congenital hypoplastic anemia

Congenital hypoplastic anemia, blackfan-diamond type

Congenital red cell aplasia

Dba

Dba1

Diamond anemia, blackfan

Diamond blackfan anemia

Diamond-blackfan anemia

Diamond-blackfan anemia type 1

Diamond-blackfan type anemia

Diamond-blackfan anemia 1

Diamond-blackfan anemia 1; dba1

Diamond-blackfan anemia caused by mutation in rps19

Diamond-blackfan syndrome

Disease, blackfan-diamond

Erythrogenesis imperfecta

Erythroblastopenia, inherited

Erythroblastopenias, inherited

Erythrogenesis imperfectas

Hypoplastic congenital anemia

Hypoplastic congenital anemias

Hypoplastic anemia-triphalangeal thumbs, aase-smith type

Imperfecta, erythrogenesis

Imperfectas, erythrogenesis

Inherited erythroblastopenia

Inherited erythroblastopenias

Pure hereditary red cell aplasia

Red cell aplasia, pure, hereditary

Rps19 diamond-blackfan anemia

Rps19-related diamond-blackfan anemia

Red cell aplasia, pure hereditary

Chronic constitutional pure red cell anaemia

Associated Genes (23)
 

NCBI-RefSeq:  RPS19   (Ribosomal protein S19)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL15   (Ribosomal protein L15)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS15A   (Ribosomal protein S15a)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS10   (Ribosomal protein S10)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL5   (Ribosomal protein L5)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL35A   (Ribosomal protein L35a)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL35   (Ribosomal protein L35)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL31   (Ribosomal protein L31)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL27   (Ribosomal protein L27)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL26   (Ribosomal protein L26)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL11   (Ribosomal protein L11)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GATA1   (GATA binding protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TSR2   (TSR2 ribosome maturation factor)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ADA2   (Adenosine deaminase 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS7   (Ribosomal protein S7)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS29   (Ribosomal protein S29)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS28   (Ribosomal protein S28)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS27   (Ribosomal protein S27)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS20   (Ribosomal protein S20)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS26   (Ribosomal protein S26)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS24   (Ribosomal protein S24)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPL18   (Ribosomal protein L18)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPS17   (Ribosomal protein S17)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Diamond-Blackfan anemia OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations