Rare Disease Library

Coralliform cataract

Corneal dystrophy

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Corneal endotheliitis

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

Cornelia de Lange syndrome

Brachmann-de Lange syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Corneodysgenesis

Corneogoniodysgenesis

Coronary arterial fistula

Coronary artery congenital malformation

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

Coronary sinus atresia

Coronary sinus stenosis

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Graham-Cox syndrome

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Corpus callosum dysgenesis-hypopituitarism syndrome

Cortical blindness-intellectual disability-polydactyly syndrome

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Corticobasal syndrome

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Coxoauricular syndrome

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Crane-Heise syndrome

Cranial malformation

Cranial meningocele

Cranial neuralgia

Facial neuralgia

Cranio-cervical dystonia with laryngeal and upper-limb involvement

DYT24 · Dystonia 24

Cranio-osteoarthropathy

Currarino disease · Currarino idiopathic osteoarthropathy

Craniodiaphyseal dysplasia

Craniodigital-intellectual disability syndrome

Scott craniodigital syndrome · Scott-Bryant-Graham syndrome

Cranioectodermal dysplasia

CED · Sensenbrenner syndrome

Craniofacial anomaly with cataract

Craniofacial conodysplasia

Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome

TMCO1 defect syndrome

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Autosomal dominant osteosclerosis, Stanescu type · Dysostosis, Stanescu type

Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome

Developmental delay-short stature-dysmorphic features-sparse hair syndrome · Loucks-Innes syndrome

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Craniofaciofrontodigital syndrome

Cantu craniofaciofrontodigital syndrome

Craniofrontonasal dysplasia

CFND · CFNS

Craniofrontonasal dysplasia-Poland anomaly syndrome

Webster-Deming syndrome

Craniolenticulosutural dysplasia

Boyadjiev-Jabs syndrome

Craniometadiaphyseal dysplasia, wormian bone type