Additional Disease Briefs

cortisone reductase deficiency

Also known as: 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of, 11-beta-hydroxysteroid dehydrogenase deficiency type 1, CORTRD, HSD 11B1 deficiency, deficiency of (R)-20-hydroxysteroid dehydrogenase, deficiency of cortisone reductase, hyperandrogenism due to cortisone reductase deficiency

cortisone reductase deficiency 1

Also known as: CORTRD1, H6PD cortisone reductase deficiency, apparent cortisone reductase deficiency, cortisone reductase deficiency 1, cortisone reductase deficiency caused by mutation in H6PD, cortisone reductase deficiency type 1, hexose-6-phosphate dehydrogenase deficiency

cortisone reductase deficiency 2

Also known as: 11-beta-hydroxysteroid dehydrogenase type 1 deficiency, CORTRD2, HSD11B1 cortisone reductase deficiency, cortisone reductase deficiency 2, cortisone reductase deficiency caused by mutation in HSD11B1, cortisone reductase deficiency type 2

Cowden disease

Also known as: CD, Cowden disease, Cowden syndrome, Cowden's disease, MHAM, dysplastic gangliocytoma of cerebellum, multiple hamartoma syndrome

coxopodopatellar syndrome

Also known as: Coxo-podo-patellar syndrome, ICPPS, SPS, Scott-Taor syndrome, congenital coxa vara, patella aplasia and tarsal synostosis, coxopodopatellar syndrome, ischiocoxopodopatellar syndrome, ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, ischiopatellar dysplasia, patella aplasia, coxa vara, tarsal synostosis, small patella syndrome

Cramp-fasciculation syndrome

Crandall syndrome

Also known as: alopecia deafness hypogonadism, alopecia-deafness-hypogonadism syndrome, alopecia-sensorineural deafness-hypogonadism syndrome

Crane-Heise syndrome

Also known as: Crane-Heise syndrome, cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus

cranial neuralgia

Also known as: cranial neuron projection bundle neuralgia, facial neuralgia, neuralgia of cranial neuron projection bundle