Diarrhea

syndrome OMIM 605911

3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency

freq: 1/1 ev: PCS

syndrome OMIM 260005

5-Oxoprolinase Deficiency

ev: IEA

syndrome OMIM 201100

Acrodermatitis Enteropathica

freq: 12/27 ev: PCS

syndrome OMIM 176000

Acute Intermittent Porphyria

ev: IEA

syndrome OMIM 613501

Agammaglobulinemia 3, Autosomal Recessive

freq: 1/1 ev: PCS

syndrome OMIM 612692

Agammaglobulinemia 6, Autosomal Recessive

freq: 1/1 ev: PCS

syndrome OMIM 615846

Aicardi-Goutieres Syndrome 7

freq: 1/5 ev: PCS

syndrome OMIM 612119

Alpha, Alpha-Trehalase Deficiency

ev: TAS

syndrome OMIM 105210

Amyloid Cardiomyopathy, Transthyretin-Related

ev: IEA

syndrome OMIM 105210

Amyloidosis, Hereditary, Transthyretin-Related

ev: IEA

syndrome OMIM 105210

Amyloidosis, Leptomeningeal, Transthyretin-Related

ev: IEA

syndrome OMIM 106100

Angioedemas, Hereditary

ev: IEA

phenotype OMIM 300615

Antisocial Behavior, Susceptibility To

freq: HP:0040284 ev: IEA

syndrome OMIM 608643

Aromatic Amino Acid Decarboxylase Deficiency

freq: 5/11 ev: PCS

syndrome OMIM 208400

Aspartylglucosamidase (Aga) Deficiency

ev: IEA

phenotype OMIM 208400

Aspartylglucosaminuria

ev: IEA

disease OMIM 615032

Autism, Susceptibility To, 18

freq: 4/17 ev: PCS

syndrome OMIM 240300

Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

freq: 14/24 ev: PCS

syndrome OMIM 241200

Bartter Syndrome, Antenatal , Type 2

ev: IEA

syndrome OMIM 601678

Bartter Syndrome, Antenatal Type 1

ev: IEA

syndrome OMIM 607765

Bile Acid Synthesis Defect, Congenital, 1

ev: IEA

syndrome OMIM 235555

Bile Acid Synthesis Defect, Congenital, 2

ev: IEA

syndrome OMIM 613812

Bile Acid Synthesis Defect, Congenital, 3

ev: TAS

syndrome OMIM 253260

Biotinidase Deficiency

ev: IEA

syndrome OMIM 300615

Brunner Syndrome

freq: HP:0040284 ev: IEA

syndrome OMIM 614162

Candidiasis, Familial, 7

freq: HP:0040283 ev: TAS

syndrome OMIM 255120

Carnitine Palmitoyl Transferase 1A Deficiency

freq: 1/1 ev: PCS

syndrome OMIM 608836

Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

freq: 1/2 ev: PCS

syndrome OMIM 211600

Cholestasis, Progressive Familial Intrahepatic 1

ev: IEA

syndrome OMIM 602347

Cholestasis, Progressive Familial Intrahepatic 3

freq: 2/2 ev: PCS

syndrome OMIM 601847

Cholestasis, Progressive Familial Intrahepatic, 2

ev: IEA

syndrome OMIM 246700

Chylomicron Retention Disease

ev: PCS

syndrome OMIM 230400

Classical Galactosemia

ev: IEA

syndrome OMIM 614265

Combined Malonic And Methylmalonic Aciduria

ev: TAS

syndrome OMIM 607594

Common Variable Immunodeficiency

ev: IEA

syndrome OMIM 226300

Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy

freq: 8/11 ev: PCS

syndrome OMIM 212065

Congenital Disorder of Glycosylation Type 1A

freq: 5/20 ev: PCS

syndrome OMIM 602579

Congenital Disorder of Glycosylation Type 1B

freq: 2/2 ev: PCS

syndrome OMIM 608104

Congenital Disorder of Glycosylation Type 1H

freq: 1/1 ev: PCS

syndrome OMIM 601110

Congenital Disorder of Glycosylation, Type Id

ev: IEA