Total: 12238 diseases

• Bulbo-spinal atrophy X-linked
• Kugelberg-Welander disease
• Spinocerebellar ataxia 8
• Spondyloepimetaphyseal dysplasia, Missouri type
• Spondyloocular syndrome, autosomal recessive
• Stapes ankylosis with broad thumb and toes
• Surfactant metabolism dysfunction, pulmonary, 4
• Syndactyly, type IV
• Telecanthus
• Thanatophoric dysplasia type 1
• Thrombocytopenia 4
• Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
• Tricho-dento-osseous syndrome
• Usher syndrome, type 2C
• Retinitis pigmentosa 31
• Retinitis pigmentosa-deafness syndrome
• Revesz syndrome
• Saccharopinuria
• Craniometaphyseal dysplasia
• Seborrhea-like dermatitis with psoriasiform elements
• Senior-Loken syndrome 5
• Salla disease
• Slowed nerve conduction velocity, autosomal dominant
• Spastic paraplegia 35
• Spermatogenic failure, Y-linked 2
• Spinal muscular atrophy, X-linked 2
• Spinocerebellar ataxia 31
• Spinocerebellar ataxia, autosomal recessive 8
• Spondylocarpotarsal synostosis syndrome
• Spondyloepimetaphyseal dysplasia Genevieve type
• Stuttering, familial persistent 1
• Syndactyly, type V
• Paroxysmal familial ventricular fibrillation 1
• Vitreoretinopathy, neovascular inflammatory
• Warburg micro syndrome 1
• Systemic lupus erythematosus 9
• Iodotyrosine deiodination defect
• alpha, alpha-Trehalase deficiency
• Amyotrophy, hereditary neuralgic
• Arrhythmogenic right ventricular dysplasia, familial 1
• Arrhythmogenic right ventricular cardiomyopathy, type 8
• Ataxia, spastic, 3, autosomal recessive
• Atrial standstill 1
• Aural atresia, congenital
• Autism 9
• Autoimmune thyroid disease 3
• Bifid nose with or without anorectal and renal anomalies
• Platelet-type bleeding disorder 8
• Langereis blood group
• Breast-ovarian cancer, familial 1