Rare Disease Library

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

Cushing syndrome due to bilateral macronodular adrenocortical disease

CS due to BMACD · Cushing syndrome due to BMACD

Cushing syndrome due to cortisol-producing adrenocortical adenoma

CS due to cortisol-producing adrenocortical adenoma

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

Cutaneous collagenous vasculopathy

CCV

Cutaneous larva migrans

Cutaneous mastocytoma

Cutaneous local mastocytoma · Multiple mastocytoma

Cutaneous mastocytosis

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

Cutaneous myiasis

Cutaneous neuroendocrine carcinoma

MCC · Merkel cell carcinoma

Cutaneous photosensitivity-lethal colitis syndrome

Cutaneous polyarteritis nodosa

Cutaneous PAN · Cutaneous periarteritis nodosa

Cutaneous pseudolymphoma

Cutaneous small vessel vasculitis

Cutaneous hypersensitivity vasculitis

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Beare-Stevenson cutis gyrata syndrome

Cutis laxa

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

Cutis laxa-Marfanoid syndrome

Cutis marmorata telangiectatica congenita

CMTC

Cutis verticis gyrata-intellectual disability syndrome

McDowall syndrome

Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome

Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

Cyanide-induced parkinsonism-dystonia

Cyclic neutropenia

Cyclosporiasis

Cylindrical spirals myopathy

Cyprus facial-neuromusculoskeletal syndrome

Cystadenoma of childhood

Cystadenoma of ovary in childhood

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

Cystic echinococcosis

Hydatid disease · Hydatidosis

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

CF · Lubani-Al Saleh-Teebi syndrome

Cystic hamartoma of lung and kidney

Graham-Boyle-Troxell syndrome

Cystic hygroma

Cystic leukoencephalopathy without megalencephaly

CLWM

Cysticercosis

Cystinuria

Cystinuria-lysinuria syndrome

Cystinuria type A

Cystinuria type B

Cystoid macular dystrophy

Autosomal dominant cystoid macular edema · DCMD

Cysts and fistulae of the face and oral cavity

Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

CMV disease in patients with impaired cell mediated immunity deemed at risk

Cytophagic histiocytic panniculitis

CHP · Winkelmann cytophagic panniculitis

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency

Czeizel-Losonci syndrome

Split hand with obstructive uropathy, spina bifida and diaphragmatic defects · Split hand-urinary anomalies-spina bifida syndrome

D-2-hydroxyglutaric aciduria

D-2-HGA · D-2-hydroxyglutaric acidemia

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

D,L-2-hydroxyglutaric aciduria

Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia · Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria