Rare Disease Library

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

2-methylbutyryl-CoA dehydrogenase deficiency

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

3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonylglycinuria · MCC deficiency

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

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 factor V deficiency

Acquired factor VII deficiency

Acquired factor X deficiency

aFX

Acquired factor XI deficiency

aFXI

Acquired factor XIII deficiency

aFXIII

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

Acquired immunodeficiency

Acquired pituitary hormone deficiency

Acquired prothrombin deficiency

Acquired hypoprothrombinemia

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 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 immunodeficiency with anti-interferon-gamma autoantibodies

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

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Alacrimia-choreoathetosis-liver dysfunction syndrome

NGLY1 deficiency · NGLY1-CDDG

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Aromatase deficiency

Congenital estrogen deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity · CD16 deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Cernunnos-XLF deficiency

Cernunnos XLFD · Cernunnos deficiency

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Citrin deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Combined deficiency of factor V and factor VIII

F5F8D · FV and FVIII combined deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

CVID phenotype due to CD19/CD81 deficiency · CD19 deficiency

Complement component 3 deficiency

C3 deficiency