Total: 12120 diseases
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- Limb-girdle muscular dystrophy, type 2J
- GNE myopathy
- Cutis laxa, X-linked
- Omodysplasia 2
- FG syndrome
- Orofacial cleft 6, susceptibility to
- Osteoarthritis susceptibility 3
- Osteoarthritis with mild chondrodysplasia
- Multiple myeloma
- Myosin storage myopathy
- Diffuse mesangial sclerosis
- Neuronopathy, distal hereditary motor, type viia
- Nonarteritic anterior ischemic optic neuropathy, susceptibility to
- Microvascular complications of diabetes 5
- Mohr-Tranebjaerg syndrome
- Mucopolysaccharidosis, MPS-III-A
- Osteopetrosis autosomal recessive 6
- Ovalocytosis, southeast asian
- Hyperphosphatasemia with bone disease
- Parathyroid carcinoma
- Essential pentosuria
- Phosphoserine aminotransferase deficiency
- Pneumothorax, primary spontaneous
- Oculopharyngeal muscular dystrophy
- Autosomal dominant optic atrophy plus syndrome
- Optic nerve hypoplasia, bilateral
- Osteochondritis dissecans
- Oto-palato-digital syndrome, type II
- Hereditary mixed polyposis syndrome 2
- Premature ovarian failure 2a
- Bradyopsia
- Prostate cancer/brain cancer susceptibility
- Pseudohypoparathyroidism
- Myopathy, reducing body, X-linked, early-onset, severe
- Navajo neurohepatopathy
- Nemaline myopathy 6
- Infantile nephronophthisis
- Hereditary sensory and autonomic neuropathy type IIA
- Severe congenital neutropenia 3, autosomal recessive
- Renal coloboma syndrome
- Eosinophil peroxidase deficiency
- Pigmented paravenous chorioretinal atrophy
- Polydactyly, preaxial I
- Polyglucosan body disease, adult
- Miller syndrome
- Prolidase deficiency
- Pulmonary atresia with intact ventricular septum
- Rapadilino syndrome
- Pyle metaphyseal dysplasia
- Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia