Rare Disease Library

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

Adrenal hypoplasia congenita

Congenital adrenal hypoplasia · AHC

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic 21-OHD CAH

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic 21-OHD CAH, salt wasting form

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Classic 21-OHD CAH, simple virilizing form

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic CLAH

Congenital adrenal hyperplasia

CAH

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 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 hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Congenital lipoid adrenal hyperplasia due to STAR deficency

LCAH · CLAH

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

MKL1-related neutrophil motility defect · Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency

Cushing syndrome due to bilateral macronodular adrenocortical disease

CS due to BMACD · Cushing syndrome due to BMACD

Hereditary thrombophilia due to congenital antithrombin deficiency

Hereditary thrombophilia due to congenital antithrombin 3 deficiency

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

Hereditary thrombophilia due to congenital HRG deficiency

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

Obesity due to congenital leptin deficiency

Severe hereditary thrombophilia due to congenital protein C deficiency

Autosomal recessive thrombophilia due to congenital protein C deficiency · Autosomal recessive thrombophilia due to PC deficiency

Severe hereditary thrombophilia due to congenital protein S deficiency

Autosomal recessive thrombophilia due to congenital protein S deficiency

X-linked adrenal hypoplasia congenita

X-linked congenital adrenal hypoplasia · X-linked AHC