Rare Disease Library

Central discoid corneal dystrophy

Centrifugal lipodystrophy

Lipodystrophia centrifugalis abdominalis infantilis

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome

Cerebellar ataxia with peripheral neuropathy

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome · CAPOS syndrome

Cervical hypertrichosis-peripheral neuropathy syndrome

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome

Childhood-onset Steinert myotonic dystrophy

Childhood-onset Steinert disease · Childhood-onset myotonic dystrophy type 1

Choroidal atrophy-alopecia syndrome

Moloney syndrome · Regional choroidal atrophy and alopecia

Chronic acquired demyelinating polyneuropathy

CADP

Chronic diarrhea with villous atrophy

Chronic enteropathy associated with SLCO2A1 gene

CEAS

Chronic inflammatory demyelinating polyneuropathy

CIDP · Chronic inflammatory demyelinating polyradiculoneuropathy

Chronic neutrophilic leukemia

Chronic polyradiculoneuropathy

CIDEC-related familial partial lipodystrophy

FPLD5 · CIDEC-related FPLD

Classic bladder exstrophy

Classic exstrophy of the bladder

CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome

Climatic droplet keratopathy

Honey-droplet corneal dystrophy

Cloacal exstrophy

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

Collagen VI-related congenital muscular dystrophy

COL6-RD

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

COMMAD syndrome

Colobomatous macrophthalmia-microcornea syndrome

MACOM syndrome

Colobomatous microphthalmia

MAC · Microphthalmia with colobomatous cyst

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Microphthalmia-coloboma-rhizomelic skeletal dysplasia

Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome

Colobomatous-microphthalmia-heart disease-hearing loss syndrome

Hittner-Hirsch-Kreh syndrome

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Cone dystrophy with supernormal rod response

Cone dystrophy with supernormal rod ERG · Cone dystrophy with supernormal rod electroretinogram

Cone rod dystrophy

Cone rod dystrophy-short stature syndrome

Confetti-like macular atrophy

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

Congenital axonal neuropathy with encephalopathy

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

CCFDN

Congenital chronic diarrhea with protein-losing enteropathy

Congenital chronic diarrhea with exudative enteropathy

Congenital disorder of glycosylation with nephropathy as a major feature

CDG with nephropathy as a major feature

Congenital dyserythropoietic anemia

CDA

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Congenital ectropion

Congenital ectropion uveae