Rare Disease Library

Rhizomelic chondrodysplasia punctata

RCDP

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 3

Rhizomelic chondrodysplasia punctata type 5

Rhizomelic dysplasia, Patterson-Lowry type

Rhizomelic syndrome, Urbach type

Rhombencephalosynapsis

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

Ribose-5-P isomerase deficiency

Richards-Rundle syndrome

Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome

Richieri Costa-da Silva syndrome

Myotonia-intellectual disability-skeletal anomalies syndrome

Richieri Costa-Pereira syndrome

Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

Rickettsial disease

Rickettsiae disease

Rickettsialpox

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

Rieger anomaly

Rift valley fever

Right aortic arch

Right inferior vena cava connecting to left-sided atrium

Right IVC connecting to left-sided atrium · Right inferior caval vein connecting to left-sided atrium

Right isomerism

Ivemark syndrome · Right atrial isomerism

Right superior vena cava connecting to left-sided atrium

Right SVC connecting to left-sided atrium · Right superior caval vein connecting to left-sided atrium

Rigid spine syndrome

Rigid spine congenital muscular dystrophy

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 10 syndrome

Ring chromosome 10 · Ring 10

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 12 syndrome

Ring chromosome 12 · Ring 12

Ring chromosome 13 syndrome

Ring chromosome 13 · Ring 13

Ring chromosome 14 syndrome

Ring chromosome 14 · Ring 14

Ring chromosome 15 syndrome

Ring chromosome 15 · Ring 15

Ring chromosome 16 syndrome

Ring chromosome 16 · Ring 16

Ring chromosome 17 syndrome

Ring chromosome 17 · Ring 17

Ring chromosome 18 syndrome

Ring chromosome 18 · Ring 18

Ring chromosome 19 syndrome

Ring chromosome 19 · Ring 19

Ring chromosome 2 syndrome

Ring chromosome 2 · Ring 2

Ring chromosome 20 syndrome

Ring chromosome 20 · Ring 20

Ring chromosome 21 syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 3 syndrome

Ring chromosome 3 · Ring 3

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 5 syndrome

Ring chromosome 5 · Ring 5

Ring chromosome 6 syndrome

Ring chromosome 6 · Ring 6

Ring chromosome 7 syndrome

Ring 7 · Ring chromosome 7

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Ring chromosome 9 syndrome

Ring chromosome 9 · Ring 9

Ring chromosome syndrome