Rare Disease Library

Caudal appendage-deafness syndrome

Caudal appendage-hearing loss syndrome · Lynch-Lee-Murday syndrome

Caudal duplication

Dipygus · Split notochord syndrome

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Caudal regression-sirenomelia spectrum

Cavernous hemangiomas of face-supraumbilical midline raphe syndrome

Cavitary myiasis

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDK13-related disorder

CDKL5-deficiency disorder

CDD

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

CEDNIK syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

Celiac disease-epilepsy-cerebral calcification syndrome

CEC

CELSR1-related late-onset primary lymphedema

Cenani-Lenz syndrome

Cenani syndactyly · Cenani-Lenz syndactyly

Central areolar choroidal dystrophy

Areolar atrophy of the macula · CACD

Central bilateral macrogyria

Central cloudy dystrophy of François

CCDF · Central cloudy corneal dystrophy of François

Central congenital hypothyroidism

Secondary hypothyroidism

Central core disease

Central discoid corneal dystrophy

Central nervous system cystic malformation

Central nervous system embryonal tumor

CNS PNET · Central nervous system primitive neuroectodermal tumor

Central nervous system malformation

Central nervous system tuberculosis

CNS tuberculosis

Central neurocytoma

Central polydactyly

Mesoaxial polydactyly

Central precocious puberty in male

Central precocious puberty in boy · CPP in male

Central retinal artery occlusion

CRAO

Central retinal vein occlusion

CRVO

Central serous chorioretinopathy

CSCR

Centrifugal lipodystrophy

Lipodystrophia centrifugalis abdominalis infantilis

Cephalocele

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

Cerebellar ataxia-ectodermal dysplasia syndrome

Cerebellar ataxia-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

Cerebellar ataxia, Cayman type

Cayman ataxia

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

CIMDAG syndrome

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Cerebellar liponeurocytoma

Cerebellar malformation

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

CADASIL · Hereditary multi-infarct dementia

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Maeda syndrome · CARASIL

Cerebral cortical dysplasia

Brain cortical dysplasia