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Diseases
Genes (657)
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COL2A1
Collagen, Type Ii, Alpha-1
Multiple Epiphyseal Dysplasia
ABHD5
Cerebral Creatine Deficiency
GALT
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GALE
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
TTPA
Familial Isolated Vitamin E Deficiency
FOXP3
Ipex Syndrome
EFHC1
Myoclonic Epilepsy, Juvenile, Susceptibility To, 3
SLC2A10
Arterial Tortuosity Syndrome
Aneurysm
TMC6
Epidermodysplasia Verruciformis
PQBP1
Renpenning's Syndrome
GALK1
Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose Epimerase Deficiency
PRPS1
Arts Syndrome
FAM20A
Enamel-Renal Syndrome
COL9A1
Multiple Epiphyseal Dysplasia
IFIH1
Singleton Merten Syndrome
PAH
Phenylketonuria
Galactose-1-Phosphate Uridylyltransferase Deficiency
GABRA1
Myoclonic Epilepsy, Juvenile, Susceptibility To, 3
SOST
Multiple Epiphyseal Dysplasia
Craniodiaphyseal Dysplasia
TMC8
Epidermodysplasia Verruciformis