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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Distal duplication 6p syndrome

ORPHA:1745Мальф.

Distal duplication 6q syndrome

ORPHA:96098Мальф.

Distal duplication 7p syndrome

ORPHA:96074Мальф.

Distal duplication 8q syndrome

ORPHA:96100Мальф.

Distal duplication 9q syndrome

ORPHA:96101Мальф.

Distal limb deficiencies-micrognathia syndrome

ORPHA:1307Мальф.
Autosomal recessive

Distal monosomy 7q36 syndrome

ORPHA:1636Мальф.

Dobrow syndrome

ORPHA:3262Мальф.

Donnai-Barrow syndrome

ORPHA:2143Мальф.
Autosomal recessive

Donohue syndrome

ORPHA:508Мальф.
Autosomal recessive

Double uterus-hemivagina-renal agenesis syndrome

ORPHA:3411Мальф.
Unknown

Down syndrome

ORPHA:870Мальф.
Not applicable

Duane retraction syndrome

ORPHA:233Мальф.
Autosomal dominant, Autosomal recessive, Not applicable

Duane retraction syndrome with congenital deafness

ORPHA:529574Мальф.
Autosomal dominant

Dubowitz syndrome

ORPHA:235Мальф.
Autosomal recessive

Dysmorphism-cleft palate-loose skin syndrome

ORPHA:1779Мальф.

Dysmorphism-conductive hearing loss-heart defect syndrome

ORPHA:289553Мальф.
Autosomal dominant

Dysmorphism-pectus carinatum-joint laxity syndrome

ORPHA:2104Мальф.
Unknown

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

ORPHA:2282Мальф.
Autosomal recessive

Dysosteosclerosis

ORPHA:1782Мальф.
Autosomal recessive, X-linked recessive

Dysplasia epiphysealis hemimelica

ORPHA:1822Мальф.
Autosomal dominant

Dysraphism-cleft lip/palate-limb reduction defects syndrome

ORPHA:2476Мальф.

Dysspondyloenchondromatosis

ORPHA:85198Мальф.
Autosomal dominant, Not applicable

EEC syndrome

ORPHA:1896Мальф.
Autosomal dominant