Clinical Disorder Search
Alphabetical List Grouped by Letter
| Disorder Name | Genes | Alternate Names | OMIM | Inheritance |
|---|---|---|---|---|
| Retinoschisis, Juvenile | RS1 | X-linked retinoschisis, XLRS1, RS | 312700 | X-linked |
| Révész Syndrome | TINF2 | exudative retinopathy with bone marrow failure and cerebellar hypoplasia | 268130 | autosomal dominant |
| Rhizomelic Chondrodysplasia Punctata | PEX7 | chondrodysplasia punctate, CDPR, RDCP1, chondrodystrophia calcificans punctata | 215100 | autosomal recessive |
| Roberts Syndrome | ESCO2 | RBS, long bone deficiencies associated with cleft lip-palate, SC phocomelia syndrome, Appelt-Gerken-Lenz syndrome | 268300 | autosomal recessive |
| Rosenthal-Kloepfer Syndrome | ? | acromegaloid changes, cutis verticis gyrata, and corneal leukoma, familial pachydermoperiostosis | 102100 | autosomal dominant? |
| Rothmund-Thomson Syndrome | RECQL4 | RTS, poikiloderma atrophicans and cataract | 268400 | autosomal recessive |
| Rubinstein-Taybi Syndrome 1 | CREBBP | RSTS1, Rubinstein syndrome, broad thumb-hallux syndrome | 180849 | autosomal dominant |
| Rubinstein-Taybi Syndrome 2 | EP300 | RSTS2 | 613684 | autosomal dominant |