Rare Disease Library

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

Robinow syndrome

Acral dysostosis with facial and genital abnormalities · Fetal face syndrome

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Romano-Ward syndrome

Romano-Ward long QT syndrome

Rombo syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Rowell syndrome

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Sézary syndrome

Sézary lymphoma

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy 13 syndrome

Patau syndrome

W syndrome

Pallister-W syndrome

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome