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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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Disorder Name Genes Alternate Names OMIM Inheritance
Retinal Dystrophy, Bothnia Type RLBP1 Bothnia dystrophy, Vasterbotten dystrophy 607475 autosomal recessive
Retinal Dystrophy, Cataracts, and Short Stature RDH11 RDJCSS 616108 autosomal recessive
Retinal Dystrophy, Newfoundland Type RLBP1 NFRCD, Newfoundland rod-cone dystrophy 607476 autosomal recessive
Retinal Nonattachment, Congenital ? PHPV, NCRNA, RNANC 611311, 221900, 611308 autosomal recessive, autosomal dominant
Retinitis Pigmentosa 1 RP1 RP1, rod-cone dystrophy, RCD 180100 autosomal recessive, autosomal dominant
Retinitis Pigmentosa 2, X-Linked RP2 RP2 312600 X-linked recessive
Retinitis Pigmentosa 25 EYS RP25 602772 autosomal recessive
Retinitis Pigmentosa 3, X-Linked RPGR XLRP, RP3 300029, 300455 X-linked recessive
Retinitis Pigmentosa 38 MERTK childhood-onset rod-cone dystrophy, RP38 613862 autosomal recessive
Retinitis Pigmentosa 42 KLHL7 RP42 612943 autosomal dominant
Retinitis Pigmentosa 47 SAG RP47 613758 autosomal dominant, autosomal recessive
Retinitis Pigmentosa 71 IFT172 RP71 616394 autosomal recessive
Retinitis Pigmentosa 72 ZNF408 RP72 616469 autosomal recessive
Retinitis Pigmentosa 75 AGBL5 RP75 617203 autosomal recessive
Retinitis Pigmentosa 76 POMGNT1 RP76 617123 autosomal recessive
Retinitis Pigmentosa 77 REEP6 RP77 617304 autosomal recessive
Retinitis Pigmentosa 78 ARHGEF18 RP78 617433 autosomal recesssive
Retinitis Pigmentosa 79 HK1 RP79 617460 autosomal dominant
Retinitis Pigmentosa 80 IFT140 RP80 617781 autosomal recessive
Retinitis Pigmentosa 81 IFT43 RP81 617871 autosomal recessive
Retinitis Pigmentosa and Mental Retardation 8q21.2-22.1 locus Mirhosseini-Holmes-Walton syndrome 268050 autosomal recessive
Retinitis Pigmentosa with Ataxia FLVCR1 AXPC1, posterior column ataxia with retinitis pigmentosa, PCARP 609033 autosomal recessive
Retinitis Pigmentosa With or Without Skeletal Anomalies CWC27 metaphyseal chondrodysplasia with retinitis pigmentosa, RPSKA 250410 autosomal recessive
Retinitis Pigmentosa, AD RHO RP, RP4 180380, 268000 autosomal dominant
Retinitis Pigmentosa, AR multiple RP 26800 autosomal recessive
Retinitis Pigmentosa, Deafness, Mental Retardation and Hypogonadism ? 268020 autosomal recessive?
Retinitis Pigmentosa, Hearing Loss, Ataxia, Cataract, and Polyneuropathy ABHD12 PHARC 612674 autosomal recessive
Retinitis Pigmentosa, RDH11 Syndrome RDH11 RDH11 autosomal recessive?
Retinitis Punctata Albescens RLBP1 fundus albipunctatus 136880 autosomal recessive
Retinoblastoma RB1, MYCN RB1 180200 autosomal dominant?
Retinopathy with Neutropenia VPS13B autosomal recessive
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
S
Disorder Name Genes Alternate Names OMIM Inheritance
Saethre-Chotzen Syndrome TWIST1, FGFR2 SCS, ACS3, ACS III, Chotzen syndrome, acrocephaly, syndactyly type III 101400 autosomal dominant
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