Total: 11948 diseases
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- Diarrhea 3, secretory sodium, congenital, syndromic
- Severe combined immunodeficiency, partial
- Diabetes mellitus, permanent neonatal, with neurologic features
- Epilepsy, juvenile myoclonic 8
- Congenital muscular dystrophy due to partial LAMA2 deficiency
- Debrisoquine, ultrarapid metabolism of
- Fabry disease, cardiac variant
- Sensorineural deafness with mild renal dysfunction
- Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia
- Malignant rhabdoid tumor, somatic
- Palmoplantar hyperkeratosis and true hermaphroditism
- Malaria, cerebral, resistance to
- Chromosome 16p11.2 duplication syndrome
- Oculocutaneous albinism type 1, temperature sensitive
- Retinitis pigmentosa 7, digenic
- Retinitis pigmentosa, concentric
- Left ventricular noncompaction 4
- Glycogen storage disease IIIc
- Glycogen storage disease IV, classic hepatic
- Autoimmune polyglandular syndrome type 1, autosomal dominant
- Hypophosphatasia, perinatal lethal
- Leigh syndrome due to mitochondrial complex I deficiency
- Usher syndrome, type 1B
- Methylmalonic aciduria, cblD type, variant 2
- Dilated cardiomyopathy with left ventricular noncompaction
- Lumbar disc herniation, susceptibility to
- Common variable immunodeficiency
- Resistance to hepatitis C virus
- Methylcrotonyl-CoA carboxylase deficiency
- Aicardi Goutieres syndrome
- Congenital stationary night blindness, X-linked
- Early-Onset Familial Alzheimer Disease
- Genetic prion diseases
- Hereditary hearing loss and deafness
- Hereditary Paraganglioma-Pheochromocytoma Syndromes
- Multiminicore Disease
- Neurologic Disorders/Seipinopathy
- Autosomal dominant non-syndromic sensorineural deafness type DFNA
- Sarcoglycanopathies
- Spinal muscular atrophy
- Stickler syndrome
- von Willebrand disorder
- Porphyria cutanea tarda, susceptibility to
- HFE INTRONIC POLYMORPHISM
- Cranioectodermal dysplasia 2
- Bardet-Biedl syndrome 12, modifier of
- Transcolabamin II deficiency
- von Willebrand disease, type 2a
- von Willebrand disease type 3
- Galactosialidosis, adult