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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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S
Disorder Name Genes Alternate Names OMIM Inheritance
Spinocerebellar Ataxia 1 ATXN1 SCA1, spinocerebellar atrophy I, Menzel type OPCA, Schut-Haymaker type OPCA, olivopontocerebellar atrophy IV, olivopontocerebellar atrophy I 164400 autosomal dominant
Spinocerebellar Ataxia 18 GRID2 SCAR18, autosomal recessive spinocerebellar ataxia 616204 autosomal recessive
Spinocerebellar Ataxia 3 ATXN3 SCA3, Machado-Joseph disease, Azorean neurologic disease, spinopontine atrophy, nigrospinodentatal degeneration 109150 autosomal dominant
Spinocerebellar Ataxia 37 DAB1 SCA37 615945 autosomal dominant
Spinocerebellar Ataxia 38 ELOVL5 SCA38 615957 autosomal dominant
Spinocerebellar Ataxia 42 CACNA1G SCA42 616795 autosomal dominant
Spinocerebellar Ataxia 7 ATXN7 olivopontocerebellar atrophy III, OPCA3, SCA7, ADCA type II 164500 autosomal dominant
Spinocerebellar Ataxia, Autosomal Recessive 7 TPP1 SCAR7 609270 autosomal recessive
Spinocerebellar Ataxia, Infantile-Onset C10ORF2 MTDPS7, IOSCA, Ohaha syndrome, spinocerebellar ataxia 8, mitochondrial DNA depletion syndrome 7 271245 autosomal recessive
Spondyloepiphyseal Dysplasia Congenita COL2A1 SEDC, SED congenital 183900 autosomal dominant
Spondylometaphyseal Dysplasia, Axial C21orf2 axial SMD, SMDAX 602271 autosomal recessive
Spondyloocular Syndrome XYLT2 SOS 605822 autosomal recessive
Stargardt Disease CNGB3, ABCA4, ELOVL4, PROM1 fundus flavimaculatus, FFM, juvenile macular degeneration, STGD 248200, 605512, 603786 autosomal recessive, autosomal dominant
Stickler Syndrome, Type I COL2A1 autosomal dominant retinal detachment, type I Stickler syndrome, STL1 609508, 108300 autosomal dominant
Stickler Syndrome, Type II COL11A1 STL2, vitreous type 2 Stickler syndrome, beaded vitreous type Stickler syndrome 604841 autosomal dominant
Stickler Syndrome, Type IV COL9A2 autosomal recessive Stickler syndrome, AR Stickler syndrome autosomal recessive
Strømme Syndrome CENPF apple peel intestinal atresia, STROMS, jejunal atresia with microcephaly and ocular anomalies, apple peel syndrome with microcephaly and ocular anomalies, ciliary dyskinesia primary 31 243605 autosomal recessive
Sulfite Oxidase Deficiency SUOX sulfite oxidase deficiency 272300 autosomal recessive
Sweeney-Cox Syndrome TWIST1 SWCOS 617746 autosomal dominant?
Sweeney-Cox Syndrome TWIST1 SWCOS 617746 autosomal dominant?
T
Disorder Name Genes Alternate Names OMIM Inheritance
Takenouchi-Kosaki Syndrome CDC42 macrothrombocytopenia and mental retardation syndrome 616737 autosomal dominant
Tangier Disease ABCA1 high density lipoprotein deficiency type 1, HDLDT1, analphalipoproteinemia 205400 autosomal recessive
Tay-Sachs Disease HEXA GM2-gangliosidosis, hexosaminidase A deficiency, HEXA deficiency, TSD 272800 autosomal recessive
Temtamy Syndrome C12orf57 colobomas, seizures, intellectual disability, corpus callosum hypoplasia syndrome, TEMTYS 218340 autosomal recessive
Tenorio Syndrome RNF125 TNORS, overgrowth macrocephaly and intellectual disability syndrome 616260 autosomal dominant
Treacher Collins-Franceschetti Syndrome TCOF1 TCOF, Treacher Collins syndrome, TCS, mandibulofacial dysostosis, MFD1 154500 autosomal dominant
Trichomegaly Plus Syndrome ? Oliver-McFarlane syndrome, long eyelashes with mental retardation 275400, 204110 autosomal recessive?
Tuberous Sclerosis 1 TSC1 tuberous sclerosis complex, TS, tuberose sclerosis, TSC, Bourneville disease 191100 autosomal dominant
Tuberous Sclerosis 2 TSC2 tuberous sclerosis complex, TS, tuberose sclerosis, TSC2 613254 autosomal dominant
Tyrosinemia, Type II TAT oculocutaneous tyrosinosis, Richner-Hanhart syndrome, TAT deficiency, keratosis palmoplantaris with corneal dystrophy, Oregon type tyrosinemia, tyrosine aminotransferase deficiency 276600 autosomal recessive
U
Disorder Name Genes Alternate Names OMIM Inheritance
Usher Syndrome Type I MYO7A, CDH3, USH1C, PCDH15, USH1G retinitis pigmentosa and congenital deafness, USH1C, USH1D, USH1E, USH1F, USH1G, USH1H, USH1, USH1B (USH1A), USHiK 276900, 276904, 601067, 602083, 606943, 602097, 612632 autosomal recessive
Usher Syndrome Type II usherin, WHRN, GPR98 Usher syndrome type IIA, USH2A, USH2C, USH2D 276901, 605472, 611383 autosomal recessive
Usher Syndrome Type III CLRN1, HARS USH3 276902, 614504 autosomal recessive
Usher Syndrome Type IV ARSG USH4 618144 autosomal recessive
V
Disorder Name Genes Alternate Names OMIM Inheritance
Vici Syndrome EPG5 cataract, VICIS, immunodeficiency with cleft lip/palate, hypopigmentation, and absent corpus callosum 242840 autosomal recessive
Vitreoretinal Degeneration, Snowflake Type KCNJ13 snowflake vitreoretinal degeneration, SVD 193230 autosomal dominant
Vitreoretinochoroidopathy BEST1 VRCP, ADVIRC, MRCS, microcornea, posterior staphyloma, rod-cone dystrophy, cataract 193220 autosomal dominant
Vitreoretinopathy with Epiphyseal Dysplasia COL2A1 vitreoretinopathy with phalangeal epiphyseal dysplasia, chondrocalcin 120140 autosomal dominant
Von Hippel-Lindau Syndrome VHL VHL, angiomatosis retinae, VHL syndrome 193300 autosomal dominant
W
Disorder Name Genes Alternate Names OMIM Inheritance
Waardenburg Syndrome, Type 1 PAX3 WS1, Waardenburg syndrome with dystopia canthorum, Klein-Waardenburg syndrome 193500 autosomal dominant
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