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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Rhizomelic chondrodysplasia punctata type 1

ORPHA:309789Этио. под.
Autosomal recessive

Rhizomelic chondrodysplasia punctata type 2

ORPHA:309796Этио. под.
Autosomal recessive

Rhizomelic chondrodysplasia punctata type 3

ORPHA:309803Этио. под.
Autosomal recessive

Rhizomelic chondrodysplasia punctata type 5

ORPHA:468717Этио. под.
Autosomal recessive

Rhizomelic dysplasia, Patterson-Lowry type

ORPHA:2831Мальф.

Rhizomelic syndrome, Urbach type

ORPHA:3098Мальф.

Rhombencephalosynapsis

ORPHA:59315Мальф.
Not applicable

Riboflavin transporter deficiency

ORPHA:97229Мальф.
Autosomal recessive

Ribose-5-P isomerase deficiency

ORPHA:440706Ауру
Autosomal recessive

Richards-Rundle syndrome

ORPHA:1399Мальф.
Autosomal recessive

Richieri Costa-Pereira syndrome

ORPHA:3102Мальф.
Autosomal recessive

Richieri Costa-da Silva syndrome

ORPHA:3101Мальф.

Ricin poisoning

ORPHA:570470Ауру
Not applicable

Rickettsialpox

ORPHA:83312Ауру
Not applicable

Rieger anomaly

ORPHA:91483Морф.
Autosomal dominant

Rift valley fever

ORPHA:319251Ауру

Right isomerism

ORPHA:97548Мальф.
Autosomal recessive

Rigid spine syndrome

ORPHA:97244Ауру
Autosomal recessive

Ring chromosome 1 syndrome

ORPHA:1437Мальф.

Ring chromosome 10 syndrome

ORPHA:1438Мальф.
Not applicable, Unknown

Ring chromosome 11 syndrome

ORPHA:96175Мальф.

Ring chromosome 12 syndrome

ORPHA:1439Мальф.

Ring chromosome 13 syndrome

ORPHA:96176Мальф.

Ring chromosome 14 syndrome

ORPHA:1440Мальф.
Not applicable, Unknown