Rare Disease Library

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Autosomal recessive spastic paraplegia type 79

Early-onset sarcoidosis

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

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

HPS10 · Hermansky-Pudlak syndrome type 10

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

Early-onset sutural cataract

Early-onset cataract with Y-shaped suture opacities

Early-onset X-linked optic atrophy

Non-Leber type optic atrophy with early-onset · OPA2

Early-onset zonular cataract

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

East Texas bleeding disorder

Factor V East Texas bleeding disorder · FV East Texas bleeding disorder

Eastern equine encephalitis

Eastern equine encephalomyelitis

Eating reflex epilepsy

Eating epilepsy · Eating seizures

Ebola hemorrhagic fever

EHF · Ebola fever

Ebstein malformation of the tricuspid valve

Ebstein anomaly of the tricuspid valve

EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature

Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature · Hemophagocytic lymphohistiocytosis

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency

EBV-induced lymphoproliferative disease due to CD137 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency

EBV-induced lymphoproliferative disease due to CD70 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency

EBV-induced lymphoproliferative disease due to PRKCD deficiency

EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency

EBV-induced lymphoproliferative disease due to RASGRP1 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency

EBV-induced lymphoproliferative disease due to TET2 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency

Eccrine angiomatous hamartoma

EAH · Eccrine angiomatous nevus

Ectasia of the left atrial appendage

Dilatation of the left auricle · Ectasia of the left auricle

Ectasia of the right atrial appendage

Dilatation of the right atrial appendage · Dilatation of the right atrial auricle

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth

Ectodermal dysplasia with natal teeth, Turnpenny type

Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Ectodermal dysplasia, trichoodontoonychial type

Ectopia cordis

Ectopia lentis-chorioretinal dystrophy-myopia syndrome

Noble-Bass-Sherman syndrome

Ectopic aldosterone-producing tumor

Extra-adrenal aldosterone-producing tumor

Ectrodactyly with and without other manifestations

Ectrodactyly-cleft palate syndrome

ECP syndrome

Ectrodactyly-ectodermal dysplasia without clefting syndrome

EEC syndrome without cleft lip/palate

Ectrodactyly-polydactyly syndrome

Ectrodactyly-spina bifida-cardiopathy syndrome

Kasznica-Carlson-Coppedge syndrome

EDICT syndrome

Autosomal dominant keratoconus with early-onset anterior polar cataracts · Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome

Edinburgh malformation syndrome

Typus Edinburgensis

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders