Rare Disease Library

Complication after organ transplantation

Complications after hematopoietic stem cell transplantation

Complications after HSCT

Cone dystrophy with supernormal rod response

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

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital anomaly of the great veins

Congenital atransferrinemia

Congenital hypotransferrinemia

Congenital bilateral absence of vas deferens

Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens

Congenital glucokinase-related hyperinsulinism

Glucokinase-related hyperinsulinemic hypoglycemia

Congenital hyperinsulinism due to HNF4A deficiency

Hyperinsulinemic hypoglycemia due to HNF4A deficiency

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Congenital insensitivity to pain syndrome, Marsili type

Marsili syndrome

Congenital insensitivity to pain with severe intellectual disability

Congenital absence of pain with severe intellectual disability · Congenital analgesia with severe intellectual disability

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

SCN9A-related congenital insensitivity to pain

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital insensitivity to pain with hyperhidrosis · Congenital absence of pain with hyperhidrosis

Congenital intestinal transport defect

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

Congenital isolated hyperinsulinism

PHHI · Persistent hyperinsulinemic hypoglycemia of infancy

Congenital joint dislocations

Congenital mitral valve insufficiency and/or stenosis

Congenital myopathy with myasthenic-like onset

Congenital pulmonary veins anomaly

Congenital pulmonary veins atresia or stenosis

Congenital systemic veins anomaly

Congenital-onset Steinert myotonic dystrophy

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

Congenitally corrected transposition of the great arteries

Congenitally corrected transposition of the great vessels · Discordant ventriculoarterial and atrioventricular connections

Congenitally uncorrected transposition of the great arteries

Transposition of the great vessels · Discordant ventriculoarterial connections

Congenitally uncorrected transposition of the great arteries with cardiac malformation

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

Congenitally uncorrected transposition of the great arteries with coarctation

Congenitally uncorrected transposition of the great vessels with coarctation · TGA with coarctation

Conjoined twins

Siamese twins

Conotruncal heart malformations

Constitutional deficiency anemia

Constitutional dyserythropoietic anemia

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Craniosynostosis-intracranial calcifications syndrome

Longman-Tolmie syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Crouzon-dermoskeletal syndrome

Cryptogenic late-onset epileptic spasms

Late-onset infantile spasms

Cutaneous larva migrans

Cutaneous photosensitivity-lethal colitis syndrome

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Beare-Stevenson cutis gyrata syndrome

Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome

Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome · Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome

Cyanide-induced parkinsonism-dystonia

De novo thrombotic microangiopathy after kidney transplantation

Defect in conserved oligomeric Golgi complex

Defect in COG complex

Demyelinating hereditary motor and sensory neuropathy

Demyelinating HMSN

Dense deposit disease

Membranoproliferative glomerulonephritis type 2

Dermatofibrosarcoma protuberans

DFSP

Desmin-related myopathy with Mallory body-like inclusions

Early-onset desmin-related myopathy