Rare Disease Library

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Childhood-onset schizophrenia

COS · Very early-onset schizophrenia

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

Glossopalatine ankylosis

Cosack syndrome

Acrokeratoelastoidosis of Costa

AKE · PPKP3

Actinomycosis

Adult polyglucosan body disease

APBD

Alveolar echinococcosis

Echinococcus multilocularis infection

Aspartylglucosaminuria

Aspartylglucosaminidase deficiency

Autosomal dominant spondylocostal dysostosis

Autosomal dominant spondylocostal dysplasia

Autosomal recessive spondylocostal dysostosis

Jarcho-Levin syndrome

Cerebrocostomandibular syndrome

Chromomycosis

Chromoblastomycosis

Class I glucose-6-phosphate dehydrogenase deficiency

Class I G6PD deficiency · Severe hemolytic anemia due to G6PD deficiency

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Classic mycosis fungoides

Mycosis fungoides, Alibert-Bazin type

Coccidioidomycosis

California disease · Coccidioides infection

Congenital bilateral megacalycosis

Congenital disorder of glycosylation

CDG · Carbohydrate deficient glycoprotein syndrome

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation as a major feature

Congenital disorder of glycosylation with deafness as a major feature

Congenital disorder of glycosylation with hearing loss as a major feature · CDG with hearing loss as a major feature

Congenital disorder of glycosylation with developmental anomaly

CDG with developmental anomaly

Congenital disorder of glycosylation with dilated cardiomyopathy

CDG with dilated cardiomyopathy

Congenital disorder of glycosylation with epilepsy as a major feature

CDG with epilepsy as a major feature

Congenital disorder of glycosylation with hepatic involvement

CDG with hepatic involvement

Congenital disorder of glycosylation with intestinal involvement

CDG with intestinal involvement

Congenital disorder of glycosylation with nephropathy as a major feature

CDG with nephropathy as a major feature

Congenital disorder of glycosylation with neurological involvement

CDG with neurological involvement

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

Congenital disorder of glycosylation-related bone disorder

CDG-related bone disorder

Congenital enteropathy involving intestinal mucosa development

Congenital megacalycosis

Congenital myasthenic syndrome with glycosylation defect

Congenitally short costocoracoid ligament

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Cryptococcosis

Cystic echinococcosis

Hydatid disease · Hydatidosis

Cysticercosis

Didymosis aplasticosebacea

Aplasia cutis congenita-nevus sebaceus syndrome

Disorder of fucoglycosan synthesis

Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Disorder of glycosphingolipid and GPI-anchored proteins glycosylation

Disorder of multiple glycosylation

Disorder of protein N-glycosylation

Disorder of protein O-glycosylation

Dysostosis with predominant vertebral and costal involvement

Emergomycosis

Emergomyces infection