MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Duchenne and Becker muscular dystrophy

ORPHA:262Клин. группа
X-linked recessive

Duchenne muscular dystrophy

ORPHA:98896Заболевание
X-linked recessive

Duodenal atresia

ORPHA:1203Морф. аномалия
Unknown

Duplication of the pituitary gland

ORPHA:314621Морф. аномалия
Not applicable

Duplication of urethra

ORPHA:237Морф. аномалия

Dural sinus malformation with arteriovenous shunt

ORPHA:97339Морф. аномалия

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:1779Мальформация

Dysmorphism-conductive hearing loss-heart defect syndrome

ORPHA:289553Мальформация
Autosomal dominant

Dysmorphism-pectus carinatum-joint laxity syndrome

ORPHA:2104Мальформация
Unknown

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

ORPHA:2282Мальформация
Autosomal recessive

Dysosteosclerosis

ORPHA:1782Мальформация
Autosomal recessive, X-linked recessive

Dysostosis with brachydactyly

ORPHA:69028Категория
Autosomal dominant, Autosomal recessive, X-linked recessive

Dysplasia epiphysealis hemimelica

ORPHA:1822Мальформация
Autosomal dominant

Dysplasia of head of femur, Meyer type

ORPHA:168621Заболевание

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

ORPHA:2204Клин. подтип

Dysraphism-cleft lip/palate-limb reduction defects syndrome

ORPHA:2476Мальформация