Total: 12287 diseases
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- 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