Rare Disease Library

Congenital ichthyosiform erythroderma

CIE · Erythrodermic ichthyosis

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

PHGDH deficiency, infantile/juvenile form

3-phosphoserine phosphatase deficiency, infantile/juvenile form

PSPH deficiency, infantile/juvenile form

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

46,XY difference of sex development due to isolated 17,20-lyase deficiency

46,XY disorder of sex development due to isolated 17,20-lyase deficiency

46,XY difference of sex development due to testicular 17,20-desmolase deficiency

46,XY disorder of sex development due to testicular 17,20-desmolase deficiency

46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency

46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency · XY sex reversal-adrenal failure

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

6-phosphogluconate dehydrogenase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Absent thumb-short stature-immunodeficiency syndrome

Acid sphingomyelinase deficiency

ASMD

Acquired angioedema with C1Inh deficiency

Acquired angioneurotic edema with C1 inhibitor deficiency · Acquired angioneurotic edema with C1Inh deficiency

Acquired arginine vasopressin deficiency

Acquired CDI · Acquired neurogenic diabetes insipidus

Acquired chronic primary adrenal insufficiency

Acquired factor V deficiency

Acquired factor VII deficiency

Acquired factor X deficiency

aFX

Acquired factor XI deficiency

aFXI

Acquired factor XIII deficiency

aFXIII

Acquired immunodeficiency

Acquired pituitary hormone deficiency

Acquired prothrombin deficiency

Acquired hypoprothrombinemia

Acute adrenal insufficiency

Adrenal crisis · Adrenocortical crisis

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency

Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency · Adult-onset CVID phenotype due to BAFF-receptor deficiency

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

Acquired adult-onset immunodeficiency · Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

Alopecia antibody deficiency

Ipp-Gelfand syndrome

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

Alpha-1-antitrypsin deficiency

Alpha1-antitrypsin deficiency · Alpha-1-proteinase inhibitor deficiency

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

Aminoacylase 1 deficiency

ACY1D · N-acyl-L-amino acid amidohydrolase deficiency

Aminoacylase deficiency

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome