MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

EEM syndrome

ORPHA:1897Мальформация
Autosomal recessive

EN1-related dorsoventral syndrome

ORPHA:611223Мальформация

EPHB4-related capillary malformation-arteriovenous malformation

ORPHA:693912Мальформация
Autosomal dominant

EVEN-plus syndrome

ORPHA:496751Мальформация
Autosomal recessive

Ear-patella-short stature syndrome

ORPHA:2554Мальформация
Autosomal dominant, Autosomal recessive

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

ORPHA:411986Мальформация
Autosomal recessive

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

ORPHA:496641Мальформация
Autosomal recessive

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

ORPHA:500144Мальформация
Autosomal recessive

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

ORPHA:505237Мальформация
Autosomal recessive

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

ORPHA:708036Мальформация
Autosomal recessive

Ectodermal dysplasia with natal teeth, Turnpenny type

ORPHA:69083Мальформация
Autosomal dominant

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

ORPHA:708043Мальформация
Autosomal dominant

Ectodermal dysplasia, trichoodontoonychial type

ORPHA:1818Мальформация

Ectodermal dysplasia-blindness syndrome

ORPHA:1806Мальформация
Autosomal recessive

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827Мальформация
Autosomal recessive

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812Мальформация
X-linked recessive

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

ORPHA:708014Мальформация

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820Мальформация
Autosomal recessive

Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883Мальформация
Autosomal recessive

Ectrodactyly-polydactyly syndrome

ORPHA:1892Мальформация

Edinburgh malformation syndrome

ORPHA:1895Мальформация
Unknown

Eiken syndrome

ORPHA:79106Мальформация
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Мальформация
Not applicable

Ellis Van Creveld syndrome

ORPHA:289Мальформация
Autosomal recessive