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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

Distal duplication 6p syndrome

ORPHA:1745Порок

Distal duplication 6q syndrome

ORPHA:96098Порок

Distal duplication 7p syndrome

ORPHA:96074Порок

Distal duplication 8q syndrome

ORPHA:96100Порок

Distal duplication 9q syndrome

ORPHA:96101Порок

Distal limb deficiencies-micrognathia syndrome

ORPHA:1307Порок
Autosomal recessive

Distal monosomy 7q36 syndrome

ORPHA:1636Порок

Dobrow syndrome

ORPHA:3262Порок

Donnai-Barrow syndrome

ORPHA:2143Порок
Autosomal recessive

Donohue syndrome

ORPHA:508Порок
Autosomal recessive

Double uterus-hemivagina-renal agenesis syndrome

ORPHA:3411Порок
Unknown

Down syndrome

ORPHA:870Порок
Not applicable

Duane retraction syndrome

ORPHA:233Порок
Autosomal dominant, Autosomal recessive, Not applicable

Duane retraction syndrome with congenital deafness

ORPHA:529574Порок
Autosomal dominant

Dubowitz syndrome

ORPHA:235Порок
Autosomal recessive

Dysmorphism-cleft palate-loose skin syndrome

ORPHA:1779Порок

Dysmorphism-conductive hearing loss-heart defect syndrome

ORPHA:289553Порок
Autosomal dominant

Dysmorphism-pectus carinatum-joint laxity syndrome

ORPHA:2104Порок
Unknown

Dysmorphism-short stature-deafness-difference of sex development syndrome

ORPHA:2282Порок
Autosomal recessive

Dysosteosclerosis

ORPHA:1782Порок
Autosomal recessive, X-linked recessive

Dysplasia epiphysealis hemimelica

ORPHA:1822Порок
Autosomal dominant

Dysraphism-cleft lip/palate-limb reduction defects syndrome

ORPHA:2476Порок

Dysspondyloenchondromatosis

ORPHA:85198Порок
Autosomal dominant, Not applicable

EEC syndrome

ORPHA:1896Порок
Autosomal dominant