Rare Disease Library

Cheirospondyloenchondromatosis

Generalized enchondromatosis with platyspondyly · Enchondromatosis Spranger, type VI

Chronic actinic dermatitis

Actinic reticuloid · Chronic photosensitivity dermatitis

Chronic cutaneous lupus erythematosus

Chronic granulomatous disease

CGD · Chronic septic granulomatosis

Chronic inflammatory demyelinating polyneuropathy

CIDP · Chronic inflammatory demyelinating polyradiculoneuropathy

Chronic relapsing inflammatory optic neuritis

CRION

Classical dermatomyositis

Climatic droplet keratopathy

Honey-droplet corneal dystrophy

Cochleovestibular malformation

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

Combined immunodeficiency with granulomatosis

CID due to RAG 1/2 deficiency · Combined immunodeficiency due to RAG 1/2 deficiency

Common cystic lymphatic malformation

Common variable immunodeficiency phenotype due to somatic mutations

CVID phenotype due to somatic mutations

Communicating congenital bronchopulmonary-foregut malformation

Complex vascular malformation with associated anomalies

Hemangiolymphangioma

Complications after hematopoietic stem cell transplantation

Complications after HSCT

Congenital diaphragmatic hernia

CDH

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation as a major feature

Congenital erosive and vesicular dermatosis

Congenital erosive and vesicular dermatosis with reticulated supple scarring · CEVD

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Congenital infiltrating lipomatosis of the face

CIL-F · Facial infused lipomatosis

Congenital intestinal disease due to an enzymatic defect

Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome

Congenital limb malformation

Congenital malformation of the eye with glaucoma as a major feature

Congenital malformation of the eyelid

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Alloimmune neonatal renal disease · FMAIG

Congenital mitral malformation

Congenital pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary airway malformation type 0

CPAM type 0 · Congenital cystic adenomatoid malformation of the lung type 0

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

Congenital thyroid malformation without hypothyroidism

Congenital tricuspid malformation

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Congenitally uncorrected transposition of the great vessels with cardiac malformation · TGA with cardiac malformation

Conotruncal heart malformations

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Coronary artery congenital malformation

Cranial malformation

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome