Rare Disease Library

Complication in hemodialysis

Complications after hematopoietic stem cell transplantation

Complications after HSCT

Composite hemangioendothelioma

Polymorphous hemangioendothelioma

Conductive deafness-malformed external ear syndrome

Conductive hearing loss-malformed external ear syndrome · Mengel-Konigsmark syndrome

Conductive deafness-ptosis-skeletal anomalies syndrome

Jackson-Barr syndrome · Conductive hearing loss-ptosis-skeletal anomalies syndrome

Cone dystrophy with supernormal rod response

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

Cone rod dystrophy

Cone rod dystrophy-short stature syndrome

Confetti-like macular atrophy

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital achiasma

Congenital adrenal hyperplasia

CAH

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

CAH due to 11-beta-hydroxylase deficiency · CYP11B1 deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Congenital alacrima

Congenital alpha2-antiplasmin deficiency

Congenital alveolar capillary dysplasia

ACDMPV · Alveolar capillary dysplasia with misalignment of pulmonary veins

Congenital amegakaryocytic thrombocytopenia

CAMT

Congenital amyoplasia

Amyoplasia congenita

Congenital analbuminemia

Congenital and infantile nephrotic syndrome

Congenital anomaly of hepatic vein

Congenital anomaly of superior vena cava

Congenital anomaly of superior caval vein · Congenital anomaly of the SVC

Congenital anomaly of the coronary sinus

Congenital anomaly of the great arteries

Congenital aorta, aortic arch or pulmonary arteries anomaly

Congenital anomaly of the great veins

Congenital anomaly of the inferior vena cava

Congenital anomaly of the IVC · Congenital anomaly of the inferior caval vein

Congenital anomaly of the tricuspid valve chordae

Congenital anomaly of tricuspid chordae tendineae · Congenital anomaly of tricuspid tendinous chords

Congenital aortic valve atresia

Congenital aortic valve dysplasia

Congenital aortic valve stenosis

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome

Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome

NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies

Congenital atransferrinemia

Congenital hypotransferrinemia

Congenital autosomal recessive small-platelet thrombocytopenia

CARST

Congenital axonal neuropathy with encephalopathy

Congenital bilateral absence of vas deferens

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

Congenital bilateral megacalycosis

Congenital bile acid synthesis defect

BASD

Congenital bile acid synthesis defect type 1

BASD1 · 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

Congenital bile acid synthesis defect type 2

Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency · BASD2

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome

Serpentine-like syndrome