Rare Disease Library

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

ACTH-dependent Cushing syndrome

ACTH-dependent CS · Adrenocorticotropic hormone-dependent Cushing syndrome

Adrenal Cushing syndrome

Adrenal CS

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Campomelia, Cumming type

Cumming syndrome

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiofaciocutaneous syndrome

CFC syndrome

Cat-eye syndrome

CES

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

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

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Endogenous Cushing syndrome

Endogenous CS

Eng-Strom syndrome

Short stature-locking fingers syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Isolated ectopia lentis

Ectopia lentis syndrome · Familial ectopia lentis

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

OBSOLETE: ACTH-independent Cushing syndrome

OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome · OBSOLETE: Adrenal Cushing syndrome

OBSOLETE: Cushing syndrome

OBSOLETE: Hypercortisolism · OBSOLETE: Hyperadrenocorticism

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

Syndromic ectopia lentis

Testicular regression syndrome

ETRS · Embryonic testicular regression syndrome