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Diseases
METABOLISM OF HETEROCYCLIC COMPOUNDS
16 Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.5 Disorders of non-mitochondrial ribosomal biogenesis and function
16.5.3 Disorders of cytosomal ribosomal proteins
Diamond-Blackfan anemia
Cytosolic small ribosomal subunit 19 deficiency
Cytosolic small ribosomal subunit 24 deficiency
Cytosolic small ribosomal subunit 20 deficiency
Cytosolic large ribosomal subunit 35A deficiency
Cytosolic large ribosomal subunit 5 deficiency
Cytosolic large ribosomal subunit 11 deficiency
Cytosolic small ribosomal subunit 7 deficiency
Cytosolic small ribosomal subunit 10 deficiency
Cytosolic small ribosomal subunit 26 deficiency
Cytosolic large ribosomal subunit 26 deficiency
Cytosolic large ribosomal subunit 15 deficiency
Cytosolic small ribosomal subunit 29 deficiency
Cytosolic small ribosomal subunit 28 deficiency
Cytosolic large ribosomal subunit 27 deficiency
Cytosolic small ribosomal subunit 27 deficiency
Cytosolic large ribosomal subunit 18 deficiency
Cytosolic large ribosomal subunit 35 deficiency
Cytosolic small ribosomal subunit 15A deficiency
Genes
Gene products
Pathways
Multimers
More information
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Home
Diseases
METABOLISM OF HETEROCYCLIC COMPOUNDS
16 Disorders of nucleobase, nucleotide and nucleic acid metabolism
16.5 Disorders of non-mitochondrial ribosomal biogenesis and function
16.5.3 Disorders of cytosomal ribosomal proteins
Diamond-Blackfan anemia
Cytosolic small ribosomal subunit 19 deficiency
Cytosolic small ribosomal subunit 24 deficiency
Cytosolic small ribosomal subunit 20 deficiency
Cytosolic large ribosomal subunit 35A deficiency
Cytosolic large ribosomal subunit 5 deficiency
Cytosolic large ribosomal subunit 11 deficiency
Cytosolic small ribosomal subunit 7 deficiency
Cytosolic small ribosomal subunit 10 deficiency
Cytosolic small ribosomal subunit 26 deficiency
Cytosolic large ribosomal subunit 26 deficiency
Cytosolic large ribosomal subunit 15 deficiency
Cytosolic small ribosomal subunit 29 deficiency
Cytosolic small ribosomal subunit 28 deficiency
Cytosolic large ribosomal subunit 27 deficiency
Cytosolic small ribosomal subunit 27 deficiency
Cytosolic large ribosomal subunit 18 deficiency
Cytosolic large ribosomal subunit 35 deficiency
Cytosolic small ribosomal subunit 15A deficiency
Genes
Gene products
Pathways
Multimers
More information
About Online IMD
Cytosolic large ribosomal subunit 18 deficiency
Synonym(s)
Diamond-Blackfan anemia type 18
Type
Disease
External link(s)
IEMbase
Gene
RPL18
/ Ribosomal Protein L18
19q13.33
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Ribosomal protein L18
Parent entry
Diamond-Blackfan anemia