Disorders: R

Disorders Alternate Names Genes Inheritance Pattern
Refsum Disease, Adult adult Refsum disease-1, adult Refsum disease-2, classic Refsum disease, heredopathia atactica polyneuritiformis, HMSN IV, macular degeneration, nystagmus, optic atrophy, phytanic acid oxidase deficiency PEX7, PHYH autosomal recessive
Retinal Arteriolar Tortuosity FRAT, HANAC, hereditary angiopathy with nephropathy aneurysms and muscle cramps, RATOR, retinal hemorrhage with vascular tortuosity COL4A1 autosomal dominant
Retinal Cone Dystrophy 3B CDSRR, cone dystrophy with night blindness, cone dystrophy with supernormal rod responses, RCD3B KCNV2 autosomal recessive
Retinal Detachment with Lattice Degeneration lattice degeneration of the retina with detachment ? autosomal dominant
Retinal Dystrophy and Obesity RDOB TUB autosomal recessive
Retinal Dystrophy with Inner Retinal Abnormalities RDGCA ITM2B autosomal dominant
Retinal Dystrophy With Or Without Extraocular Anomalies RDEOA RCBTB1 autosomal recessive
Retinal Dystrophy, Bothnia Type Bothnia dystrophy, Vasterbotten dystrophy RLBP1 autosomal recessive
Retinal Dystrophy, Cataracts, and Short Stature RDJCSS RDH11 autosomal recessive
Retinal Dystrophy, Newfoundland Type Newfoundland rod-cone dystrophy, NFRCD RLBP1 autosomal recessive
Retinal Nonattachment, Congenital NCRNA, PHPV, RNANC ? autosomal dominant, autosomal recessive
Retinitis Pigmentosa 1 RCD, rod-cone dystrophy, RP1 RP1 autosomal dominant, autosomal recessive
Retinitis Pigmentosa 2, X-Linked RP2 RP2 X-linked recessive
Retinitis Pigmentosa 25 RP25 EYS autosomal recessive
Retinitis Pigmentosa 3, X-Linked RP3, XLRP RPGR X-linked recessive
Retinitis Pigmentosa 38 childhood-onset rod-cone dystrophy, RP38 MERTK autosomal recessive
Retinitis Pigmentosa 42 RP42 KLHL7 autosomal dominant
Retinitis Pigmentosa 47 RP47 SAG autosomal dominant, autosomal recessive
Retinitis Pigmentosa 71 RP71 IFT172 autosomal recessive
Retinitis Pigmentosa 72 RP72 ZNF408 autosomal recessive
Retinitis Pigmentosa 75 RP75 AGBL5 autosomal recessive
Retinitis Pigmentosa 76 RP76 POMGNT1 autosomal recessive
Retinitis Pigmentosa 77 RP77 REEP6 autosomal recessive
Retinitis Pigmentosa 78 RP78 ARHGEF18 autosomal recesssive
Retinitis Pigmentosa 79 RP79 HK1 autosomal dominant
Retinitis Pigmentosa and Mental Retardation Mirhosseini-Holmes-Walton syndrome 8q21.2-22.1 locus autosomal recessive
Retinitis Pigmentosa with Ataxia AXPC1, PCARP, posterior column ataxia with retinitis pigmentosa FLVCR1 autosomal recessive
Retinitis Pigmentosa With or Without Skeletal Anomalies metaphyseal chondrodysplasia with retinitis pigmentosa, RPSKA CWC27
Retinitis Pigmentosa, AD RP, RP4 RHO autosomal dominant
Retinitis Pigmentosa, AR RP multiple autosomal recessive
Retinitis Pigmentosa, Deafness, Mental Retardation and Hypogonadism ? autosomal recessive?
Retinitis Pigmentosa, Hearing Loss, Ataxia, Cataract, and Polyneuropathy PHARC ABHD12 autosomal recessive
Retinitis Pigmentosa, RDH11 Syndrome RDH11 RDH11 autosomal recessive?
Retinitis Punctata Albescens fundus albipunctatus RLBP1 autosomal recessive
Retinoblastoma RB1 MYCN, RB1 autosomal dominant?
Retinopathy with Neutropenia VPS13B autosomal recessive
Retinoschisis, Juvenile RS, X-linked retinoschisis, XLRS1 RS1 X-linked
Révész Syndrome exudative retinopathy with bone marrow failure and cerebellar hypoplasia TINF2 autosomal dominant
Rhizomelic Chondrodysplasia Punctata CDPR, chondrodysplasia punctate, chondrodystrophia calcificans punctata, RDCP1 PEX7 autosomal recessive
Roberts Syndrome Appelt-Gerken-Lenz syndrome, long bone deficiencies associated with cleft lip-palate, RBS, SC phocomelia syndrome ESCO2 autosomal recessive
Rosenthal-Kloepfer Syndrome acromegaloid changes, and corneal leukoma, cutis verticis gyrata, familial pachydermoperiostosis ? autosomal dominant?
Rothmund-Thomson Syndrome poikiloderma atrophicans and cataract, RTS RECQL4 autosomal recessive
Rubinstein-Taybi Syndrome 1 broad thumb-hallux syndrome, RSTS1, Rubinstein syndrome CREBBP autosomal dominant
Rubinstein-Taybi Syndrome 2 RSTS2 EP300 autosomal dominant