Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Enterocyte Heparan Sulfate Deficiency

Congenital enterocyte heparan sulfate deficiency is a very rare, severe, genetic ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital ectropion uveae

Congenital ectropion uveae, often shortened to CEU, is a very rare eye condition present ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Dyserythropoietic Anemia, Type III

Congenital dyserythropoietic anemia, type III, also called CDA type III, is a very rare ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Dyserythropoietic Anemia Type I

Congenital dyserythropoietic anemia, type I, usually called CDA type I, is a rare ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Dyserythropoietic Anemia Due to KLF1 Mutation

Congenital dyserythropoietic anemia due to KLF1 mutation is a very rare inherited red ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Dyserythropoietic Anemia Due to KLF1 Mutation

Congenital dyserythropoietic anemia due to KLF1 mutation is a very rare inherited red ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

HEMPAS – Hereditary Erythroblast Multinuclearity with Positive Acid Serum Test

HEMPAS - Hereditary Erythroblast Multinuclearity with Positive Acid Serum Test is a rare ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Dyserythropoietic Anemia Type 2

Congenital dyserythropoietic anemia type 2, also called CDA type II, is a rare inherited ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Component of Oligomeric Golgi Complex 2–Congenital Disorder of Glycosylation

Component of oligomeric Golgi complex 2–congenital disorder of glycosylation is usually ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Disorder of Glycosylation, Type IIq

Congenital disorder of glycosylation, type IIq, is a very rare inherited metabolic ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

DPM1-CDG Dolichyl-Phosphate Mannosyltransferase 1 Catalytic Subunit Congenital Disorder of Glycosylation

DPM1-CDG means dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Dolichol-Phosphate-Mannose Synthase 1 Deficiency

Dolichol-phosphate-mannose synthase 1 deficiency is a very rare inherited disease. ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Dol-P-Mannosyltransferase Deficiency

Dol-P-mannosyltransferase deficiency is a very rare inherited congenital disorder of ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Disorder of Glycosylation Caused by Mutation in DPM1

Congenital disorder of glycosylation caused by mutation in DPM1 is a very rare inherited ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Disorder of Glycosylation Type 1e

Congenital disorder of glycosylation type 1e, also called DPM1-CDG or CDG-Ie, is a very ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Disorder of Glycosylation

Congenital disorder of glycosylation, usually called CDG, is a large group of rare ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

NGLY1-Related Congenital Disorder of Deglycosylation

NGLY1-related congenital disorder of deglycosylation is a very rare inherited disease ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

GUCY2C Congenital Diarrhea

GUCY2C congenital diarrhea is a very rare inherited bowel disease that usually starts ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Congenital Diarrhea Caused by Mutation in GUCY2C

Congenital diarrhea caused by mutation in GUCY2C is a very rare inherited bowel disease ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)

Chronic Diarrhea Due to Guanylate Cyclase 2C Overactivity

Chronic diarrhea due to guanylate cyclase 2C overactivity is a very rare inherited ...
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