Rare Disease Library

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital thyroid malformation without hypothyroidism

Congenital total pulmonary venous return anomaly

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheal stenosis

Congenital tracheomalacia

Congenital major airway collapse

Congenital tricuspid malformation

Congenital tricuspid stenosis

Congenital tricuspid valve dysplasia

Congenital trigeminal anesthesia

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Congenital tufting enteropathy

Intestinal epithelial dysplasia · IED

Congenital unguarded mitral orifice

Congenital unilateral hypoplasia of depressor anguli oris

Isolated asymmetric crying facies

Congenital urachal anomaly

Congenital varicella syndrome

Mother-to-child transmission of varicella syndrome · Antenatal varicella virus infection

Congenital vascular bone syndrome

Congenital velopharyngeal incompetence

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital NAD deficiency disorder

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Congenital vertical talus, bilateral

Congenital vertical talus, unilateral

Congenital vitamin K-dependent coagulation factors deficiency

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 short costocoracoid ligament

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

Conjunctival malignant melanoma

Conjunctival melanoma

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

Bone fragility-contractures-arterial rupture-deafness syndrome · Connective tissue disorder due to LH3 deficiency

Connective tissue dysplasia, Spellacy type

Spellacy-Gibbs-Watts syndrome

Cono-spondylar dysplasia

Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome

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

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

Ladda-Zonana-Ramer syndrome

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

Conus spinal cord lipoma

Cooks syndrome

Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome · ODP

Cooper-Jabs syndrome

Aural atresia-multiple congenital anomalies-intellectual disability syndrome

COQ7-related distal hereditary motor neuropathy

Cor triatriatum dexter

Cor triatriatum dextrum · Divided right atrium

Cor triatriatum sinister

Cor triatriatum sinistrum · Divided left atrium