Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
EEM syndrome
Autosomal recessive
Neonatal
EN1-related dorsoventral syndrome
Neonatal
EPHB4-related capillary malformation-arteriovenous malformation
Autosomal dominant
EVEN-plus syndrome
Autosomal recessive
Antenatal
Ear-patella-short stature syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Autosomal recessive
Infancy
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Autosomal recessive
Infancy, Neonatal
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Autosomal recessive
Neonatal
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Autosomal recessive
Infancy
Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth
Autosomal recessive
Ectodermal dysplasia with natal teeth, Turnpenny type
Autosomal dominant
Childhood, Neonatal
Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples
Autosomal dominant
Ectodermal dysplasia, trichoodontoonychial type
Antenatal, Infancy, Neonatal
Ectodermal dysplasia-blindness syndrome
Autosomal recessive
Neonatal
Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
Autosomal recessive
Infancy, Neonatal
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
X-linked recessive
Antenatal, Neonatal
Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
Autosomal recessive
Infancy, Neonatal
Ectodermal dysplasia-sensorineural deafness syndrome
Autosomal recessive
Childhood, Infancy
Ectrodactyly-polydactyly syndrome
Antenatal
Edinburgh malformation syndrome
Unknown
Neonatal
Eiken syndrome
Autosomal recessive
Infancy, Neonatal
Eisenmenger syndrome
Not applicable
Adolescent, Adult, Childhood
Ellis Van Creveld syndrome
Autosomal recessive
Antenatal, Neonatal