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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

EEM syndrome

ORPHA:1897Порок
Autosomal recessive

EN1-related dorsoventral syndrome

ORPHA:611223Порок

EPHB4-related capillary malformation-arteriovenous malformation

ORPHA:693912Порок
Autosomal dominant

EVEN-plus syndrome

ORPHA:496751Порок
Autosomal recessive

Ear-patella-short stature syndrome

ORPHA:2554Порок
Autosomal dominant, Autosomal recessive

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

ORPHA:411986Порок
Autosomal recessive

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

ORPHA:496641Порок
Autosomal recessive

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

ORPHA:500144Порок
Autosomal recessive

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

ORPHA:505237Порок
Autosomal recessive

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

ORPHA:708036Порок
Autosomal recessive

Ectodermal dysplasia with natal teeth, Turnpenny type

ORPHA:69083Порок
Autosomal dominant

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

ORPHA:708043Порок
Autosomal dominant

Ectodermal dysplasia, trichoodontoonychial type

ORPHA:1818Порок

Ectodermal dysplasia-blindness syndrome

ORPHA:1806Порок
Autosomal recessive

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827Порок
Autosomal recessive

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812Порок
X-linked recessive

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

ORPHA:708014Порок

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820Порок
Autosomal recessive

Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883Порок
Autosomal recessive

Ectrodactyly-polydactyly syndrome

ORPHA:1892Порок

Edinburgh malformation syndrome

ORPHA:1895Порок
Unknown

Eiken syndrome

ORPHA:79106Порок
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Порок
Not applicable

Ellis Van Creveld syndrome

ORPHA:289Порок
Autosomal recessive