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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Duchenne and Becker muscular dystrophy

ORPHA:262Клин. гр.
X-linked recessive

Duchenne muscular dystrophy

ORPHA:98896Заболевание
X-linked recessive

Duodenal atresia

ORPHA:1203Морф.
Unknown

Duplication of the pituitary gland

ORPHA:314621Морф.
Not applicable

Duplication of urethra

ORPHA:237Морф.

Dural sinus malformation with arteriovenous shunt

ORPHA:97339Морф.

Dyggve-Melchior-Clausen disease

ORPHA:239Заболевание
Autosomal recessive

Dysbetalipoproteinemia

ORPHA:412Заболевание
Autosomal dominant, Multigenic/multifactorial

Dyschromatosis symmetrica hereditaria

ORPHA:41Заболевание
Autosomal dominant

Dyschromatosis universalis hereditaria

ORPHA:241Заболевание
Autosomal dominant, Autosomal recessive

Dysembryoplastic neuroepithelial tumor

ORPHA:251946Заболевание
Not applicable

Dysequilibrium syndrome

ORPHA:1766Заболевание
Autosomal recessive

Dysferlin-related limb-girdle muscular dystrophy R2

ORPHA:268Заболевание
Autosomal recessive

Dyskeratosis congenita

ORPHA:1775Заболевание
Autosomal dominant, Autosomal recessive, X-linked 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

Dysostosis with brachydactyly

ORPHA:69028Кат.
Autosomal dominant, Autosomal recessive, X-linked recessive

Dysplasia epiphysealis hemimelica

ORPHA:1822Порок
Autosomal dominant

Dysplasia of head of femur, Meyer type

ORPHA:168621Заболевание

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

ORPHA:2204Клин. подт.

Dysraphism-cleft lip/palate-limb reduction defects syndrome

ORPHA:2476Порок