Rare Disease Library

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

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

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

Acatalasemia

Catalase deficiency

Adult Refsum disease

Classic Refsum disease · HMSN 4

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Beta-mannosidosis

Beta-mannosidase deficiency

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-sarcoglycanopathy · LGMD2E

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic 21-OHD CAH

Combined immunodeficiency due to c-REL deficiency

CID due to c-REL deficiency · Combined immunodeficiency due to cellular homolog of v-Rel deficiency

Combined immunodeficiency due to CARD11 deficiency

CID due to CARD11 deficiency · Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency

Combined immunodeficiency due to DOCK2 deficiency

Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency · CID due to DOCK2 deficiency

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Combined immunodeficiency due to GINS1 deficiency

Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia · CID due to GINS1 deficiency

Combined immunodeficiency due to HELIOS deficiency

CID due to HELIOS deficiency · Combined immunodeficiency due to IKZF2 deficiency

Combined immunodeficiency due to IKBKB deficiency

CID due to IKBKB deficiency · Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency

Combined immunodeficiency due to IL21R deficiency

CID due to IL21R deficiency · Combined immunodeficiency due to interleukin 21 receptor deficiency

Combined immunodeficiency due to LCK deficiency

CID due to LCK deficiency · CID due to lymphocyte-specific protein tyrosine kinase deficiency

Combined immunodeficiency due to Moesin deficiency

MSN-related combined immunodeficiency · CID due to Moesin deficiency

Combined immunodeficiency due to ORAI1 deficiency

CID due to ORAI1 deficiency

Combined immunodeficiency due to RELB deficiency

CID due to RELB deficiency · Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency

Combined immunodeficiency due to STIM1 deficiency

CID due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

CID due to STK4 deficiency

Combined immunodeficiency due to TFRC deficiency

CID due to TFRC deficiency · TFRC-related combined immunodeficiency

Combined immunodeficiency with granulomatosis

CID due to RAG 1/2 deficiency · Combined immunodeficiency due to RAG 1/2 deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital bile acid synthesis defect type 1

BASD1 · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase deficiency

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Bone fragility-contractures-arterial rupture-deafness syndrome · Connective tissue disorder due to LH3 deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Epidermolysis bullosa simplex due to BP230 deficiency

DST-related epidermolysis bullosa simplex · EBS due to BP230 deficiency

Glycogen storage disease due to aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency

Glycogen storage disease due to muscle beta-enolase deficiency

GSD due to muscle beta-enolase deficiency · GSDXIII

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Hyperandrogenism due to cortisone reductase deficiency

11-beta-hydroxysteroid dehydrogenase deficiency type 1

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI