Rare Disease Library

Eiken syndrome

Eisenmenger syndrome

Autosomal dominant epidermolytic ichthyosis

BCIE · Bullous congenital ichthyosiform erythroderma

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

Exercise-induced hyperinsulinism

EIHI · Exercise-induced hyperinsulinemic hypoglycemia

Abetalipoproteinemia

Bassen-Kornzweig disease · Homozygous familial hypobetalipoproteinemia

Absence of innominate vein

Absence of brachiocephalic vein

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins

Adult-onset Steinert myotonic dystrophy

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

Amino acid or protein metabolism disease with epilepsy

Anterior uveitis

Iridocyclitis

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

Autoimmune pulmonary alveolar proteinosis

Autoimmune PAP · aPAP

Autosomal dominant Emery-Dreifuss muscular dystrophy

EDMD2

Autosomal recessive Emery-Dreifuss muscular dystrophy

EDMD3

Benign focal seizures of adolescence

Adolescent benign focal crisis

Benign idiopathic neonatal seizures

BINS · Benign nonfamilial neonatal seizures

Benign non-familial infantile seizures

Benign partial epilepsy of infancy with complex partial seizures

Benign partial epilepsy with secondarily generalized seizures in infancy

Benign partial infantile seizures

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

Beta-propeller protein-associated neurodegeneration

BPAN · NBIA5

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Bleeding diathesis due to glycoprotein VI deficiency

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Bonnemann-Meinecke-Reich syndrome

Encephalopathy-intracerebral calcification-retinal degeneration syndrome

Cardiocranial syndrome, Pfeiffer type

Craniosynostosis-congenital heart disease-intellectual disability syndrome · Pfeiffer-Singer-Zschiesche syndrome

Central retinal vein occlusion

CRVO

Cheilitis glandularis

Cheirospondyloenchondromatosis

Generalized enchondromatosis with platyspondyly · Enchondromatosis Spranger, type VI

Childhood-onset Steinert myotonic dystrophy

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

Chronic Epstein-Barr virus infection syndrome

Chronic EBV infection syndrome · CAEBV syndrome

Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation

Cleidocranial dysplasia

Cleidocranial dysostosis

Cleidocranial dysplasia and isolated cranial ossification defect

Cleidorhizomelic syndrome

Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome

COASY protein-associated neurodegeneration

CoPAN · NBIA6

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Congenital anomaly of hepatic vein

Congenital anomaly of the great veins

Congenital chronic diarrhea with protein-losing enteropathy

Congenital chronic diarrhea with exudative enteropathy

Congenital deficiency in alpha-fetoprotein

Congenital Epstein-Barr virus infection

Antenatal Epstein-Barr virus infection · Mother-to-child transmission of Epstein-Barr virus infection

Congenital high-molecular-weight kininogen deficiency