Rare Disease Library

CLN11 disease

Neuronal ceroid lipofuscinosis type 11 · NCL11

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

CLN14 disease

Neuronal ceroid lipofuscinosis type 14 · NCL14

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

CLN3 disease

Neuronal ceroid lipofuscinosis type 3

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

Cloacal exstrophy

OEIS complex · Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome

Clonorchiasis

Closed iniencephaly

Closed spinal dysraphism

Spina bifida occulta · Closed spina bifida

Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

Benallegue-Lacete syndrome

Cloverleaf skull-multiple congenital anomalies syndrome

CLOVES syndrome

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Coarctation of aorta

Aorta coarctation

COASY protein-associated neurodegeneration

CoPAN · NBIA6

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

Coats plus syndrome

CRMCC · Cerebroretinal microangiopathy with calcifications and cysts

Cobblestone lissencephaly

Lissencephaly type 2

Cobblestone lissencephaly without muscular or ocular involvement

Cobblestone lissencephaly without muscular or eye involvement · Lissencephaly type 2 without muscular or eye involvement

Cocaine embryofetopathy

Fetal cocaine syndrome

Cocaine intoxication

Coccidioidomycosis

California disease · Coccidioides infection

Cochlear nerve deficiency

Cochleosaccular degeneration-cataract syndrome

Cochleovestibular malformation

Cockayne syndrome

Cockayne syndrome type 1

Cockayne syndrome type I

Cockayne syndrome type 2

Cockayne syndrome type II

Cockayne syndrome type 3

Cockayne syndrome type III

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Coffin-Lowry syndrome

CLS

Coffin-Siris syndrome

CSS

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

COG1-CDG

Congenital disorder of glycosylation type 2g · CDG syndrome type IIg

COG2-CDG

COG2-related congenital disorder of glycosylation

COG4-CDG

Congenital disorder of glycosylation type 2j · CDG syndrome type IIj

COG5-CDG

CDG syndrome type IIi · CDG-IIi

COG6-CGD

CDG2L · CDG syndrome type IIL

COG7-CDG

CDG syndrome type IIe · CDG-IIe

COG8-CDG

CDG syndrome type IIh · CDG-IIh

Cogan syndrome