Total: 12287 diseases
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- 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