Rare Disease Library

Progressive supranuclear palsy-corticobasal syndrome

PSP-CBS · PSP-corticobasal syndrome

Atypical progressive supranuclear palsy syndrome

Atypical PSP syndrome

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

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

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Coats plus syndrome

CRMCC · Cerebroretinal microangiopathy with calcifications and cysts

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Cogan syndrome

Cohen syndrome

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

COMMAD syndrome

Cooks syndrome

Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome · ODP

Corticobasal syndrome

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Glossopalatine ankylosis

Cosack syndrome

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

Isolated congenital onychodysplasia

COIF · COIF syndrome

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Progressive supranuclear palsy

PSP syndrome

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome