Rare Disease Library

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

Congenital prekallikrein deficiency

Congenital pulmonary vein atresia

Congenital PVA · CPVA

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

Crane-Heise syndrome

Czeizel-Losonci syndrome

Split hand with obstructive uropathy, spina bifida and diaphragmatic defects · Split hand-urinary anomalies-spina bifida syndrome

Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome

Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome

Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome

Disorder of protein N-glycosylation

Disorder of protein O-glycosylation

Disorder of vitamin and non-protein cofactor absorption and transport

Disseminated peritoneal leiomyomatosis

DPL · Diffuse peritoneal leiomyomatosis

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Ebstein malformation of the tricuspid valve

Ebstein anomaly of the tricuspid valve

Emery-Dreifuss muscular dystrophy

EDMD

Epilepsy with generalized tonic-clonic seizures alone

Epilepsy with grand mal seizures on awakening · GTCA

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Epilepsy with reading-induced seizures

EwRIS

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Epstein-Barr Virus-associated carcinoma

EBV-associated carcinoma

Epstein-Barr virus-associated gastric carcinoma

EBV-associated gastric carcinoma · EBVaGC

Epstein-Barr virus-associated malignant lymphoproliferative disorder

EBV-associated lymphoproliferative disorder

Epstein-Barr Virus-associated mesenchymal tumor

EBV-associated mesenchymal tumor

Epstein-Barr virus-positive diffuse large B-cell lymphoma

Diffuse large B-cell lymphoma · DLBCL

Epstein-Barr Virus-related tumor

EBV-related tumor

Erdheim-Chester disease

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Familial adrenal hypoplasia with absent pituitary LH · Familial adrenal hypoplasia, miniature type

Familial Alzheimer-like prion disease

Familial apolipoprotein A5 deficiency

Familial apolipoprotein A-V deficiency · Familial APOA5 deficiency

Familial apolipoprotein C-II deficiency

Familial apoC-II deficiency · Familial APOC2 deficiency

Familial Hyperalphalipoproteinemia

Familial lipoprotein lipase deficiency

LPL deficiency

Familial mesial temporal lobe epilepsy with febrile seizures

Familial multiple nevi flammei

Familial multiple port-wine stains

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Female infertility due to oocyte meiotic arrest

Folinic acid-responsive seizures

Friedreich ataxia

FA · FRDA

Gelastic seizures with hypothalamic hamartoma

GS-HH · Hypothalamic hamartoma with gelastic seizures

Genetic epilepsy with febrile seizure plus

GEFS+ · Generalized epilepsy with febrile seizures plus