DIAMOND-BLACKFAN ANEMIA 1

DBA1

http://purl.bioontology.org/ontology/OMIM/105650

DBA1

DBA

AREGENERATIVE ANEMIA, CHRONIC CONGENITAL

ANEMIA, CONGENITAL ERYTHROID HYPOPLASTIC

ERYTHROGENESIS IMPERFECTA

RED CELL APLASIA, PURE, HEREDITARY

AASE SYNDROME

ANEMIA, CONGENITAL HYPOPLASTIC, OF BLACKFAN AND DIAMOND

BDS

BLACKFAN-DIAMOND SYNDROME

AASE-SMITH SYNDROME II

C2676137

19q13.2

DBA1

DBA

RPS19

http://purl.bioontology.org/ontology/OMIM/MTHU003642

http://purl.bioontology.org/ontology/OMIM/MTHU009001

http://purl.bioontology.org/ontology/OMIM/MTHU026686

http://purl.bioontology.org/ontology/OMIM/MTHU026684

http://purl.bioontology.org/ontology/OMIM/MTHU026678

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU002673

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU026682

http://purl.bioontology.org/ontology/OMIM/MTHU006449

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU000512

http://purl.bioontology.org/ontology/OMIM/MTHU004003

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU009582

http://purl.bioontology.org/ontology/OMIM/MTHU007225

http://purl.bioontology.org/ontology/OMIM/MTHU036343

http://purl.bioontology.org/ontology/OMIM/MTHU024110

http://purl.bioontology.org/ontology/OMIM/MTHU002680

http://purl.bioontology.org/ontology/OMIM/MTHU026679

http://purl.bioontology.org/ontology/OMIM/MTHU026677

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU026675

http://purl.bioontology.org/ontology/OMIM/MTHU017293

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU008388

http://purl.bioontology.org/ontology/OMIM/MTHU026680

http://purl.bioontology.org/ontology/OMIM/MTHU026683

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU026687

http://purl.bioontology.org/ontology/OMIM/MTHU026685

http://purl.bioontology.org/ontology/OMIM/MTHU017046

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU002595

http://purl.bioontology.org/ontology/OMIM/MTHU041158

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU036403

http://purl.bioontology.org/ontology/OMIM/MTHU009058

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU009585

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU015760

http://purl.bioontology.org/ontology/OMIM/MTHU007311

http://purl.bioontology.org/ontology/OMIM/MTHU026676

http://purl.bioontology.org/ontology/OMIM/MTHU026674

Phenotype description, molecular basis known.

205900

205600

105650

3

pound

DIAMOND-BLACKFAN ANEMIA 1

Variable expressivity in families [MISCELLANEOUS]

Most cases are sporadic [MISCELLANEOUS]

Caused by mutation in the ribosomal protein S19 gene (RPS19, 603474.0001) [MOLECULAR BASIS]

Onset in infancy [MISCELLANEOUS]

Age at diagnosis 2-4 months [MISCELLANEOUS]

40% patients have associated abnormalities [MISCELLANEOUS]

T047