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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Rhizomelic chondrodysplasia punctata type 1

ORPHA:309789Этиол. подт.
Autosomal recessive

Rhizomelic chondrodysplasia punctata type 2

ORPHA:309796Этиол. подт.
Autosomal recessive

Rhizomelic chondrodysplasia punctata type 3

ORPHA:309803Этиол. подт.
Autosomal recessive

Rhizomelic chondrodysplasia punctata type 5

ORPHA:468717Этиол. подт.
Autosomal recessive

Rhizomelic dysplasia, Patterson-Lowry type

ORPHA:2831Порок

Rhizomelic syndrome, Urbach type

ORPHA:3098Порок

Rhombencephalosynapsis

ORPHA:59315Порок
Not applicable

Riboflavin transporter deficiency

ORPHA:97229Порок
Autosomal recessive

Ribose-5-P isomerase deficiency

ORPHA:440706Заболевание
Autosomal recessive

Richards-Rundle syndrome

ORPHA:1399Порок
Autosomal recessive

Richieri Costa-Pereira syndrome

ORPHA:3102Порок
Autosomal recessive

Richieri Costa-da Silva syndrome

ORPHA:3101Порок

Ricin poisoning

ORPHA:570470Заболевание
Not applicable

Rickettsialpox

ORPHA:83312Заболевание
Not applicable

Rieger anomaly

ORPHA:91483Морф.
Autosomal dominant

Rift valley fever

ORPHA:319251Заболевание

Right isomerism

ORPHA:97548Порок
Autosomal recessive

Rigid spine syndrome

ORPHA:97244Заболевание
Autosomal recessive

Ring chromosome 1 syndrome

ORPHA:1437Порок

Ring chromosome 10 syndrome

ORPHA:1438Порок
Not applicable, Unknown

Ring chromosome 11 syndrome

ORPHA:96175Порок

Ring chromosome 12 syndrome

ORPHA:1439Порок

Ring chromosome 13 syndrome

ORPHA:96176Порок

Ring chromosome 14 syndrome

ORPHA:1440Порок
Not applicable, Unknown