Total: 12120 diseases

• Cold-induced sweating syndrome 1
• Familial colorectal cancer
• Factor H deficiency
• Congenital disorder of glycosylation type 1N
• Birk Barel mental retardation dysmorphism syndrome
• BLOOD GROUP--LUTHERAN INHIBITOR
• Blue rubber bleb nevus
• Type B brachydactyly
• Brachydactyly-Mental Retardation syndrome
• Branchiootorenal syndrome 2
• Bronchiectasis with or without elevated sweat chloride 1
• Diaphyseal dysplasia
• Dermatitis, atopic, 2
• Diabetes mellitus type 1
• Transient neonatal diabetes mellitus 2
• Complete trisomy 21 syndrome
• Dystransthyretinemic euthyroidal hyperthyroxinemia
• Ectodermal dysplasia, 'pure' hair-nail type
• EEM syndrome
• Epidermolysis bullosa simplex with migratory circinate erythema
• Epilepsy, childhood absence 1
• Epilepsy, nocturnal frontal lobe, type 3
• Early infantile epileptic encephalopathy 4
• Multiple epiphyseal dysplasia 3
• Episodic ataxia, type 6
• Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development
• Cryptorchidism
• Cystathioninuria
• Cystinuria
• Deafness, autosomal recessive 1b
• Deafness-infertility syndrome
• Lewy body dementia
• Immunodeficiency 32b
• Factor V deficiency
• Familial mediterranean fever, autosomal dominant
• FG syndrome 2
• Fuhrmann syndrome
• Focal segmental glomerulosclerosis 1
• Dilated cardiomyopathy 1C
• Familial restrictive cardiomyopathy 3
• Metaphyseal chondrodysplasia, McKusick type
• Cerebral palsy, spastic quadriplegic, 1
• Cerebroretinal microangiopathy with calcifications and cysts 1
• Fucosidosis
• Acute neuronopathic Gaucher's disease
• Giant axonal neuropathy 2, autosomal dominant
• Glycogen storage disease of heart, lethal congenital
• Griscelli syndrome type 1
• Charcot-Marie-Tooth disease type 2B1
• Charcot-Marie-Tooth disease dominant intermediate 3