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Diseases
Genes (762)
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ABHD5
Cerebral Creatine Deficiency
GAMT
Guanidinoacetate Methyltransferase Deficiency
GJA1
Neurodegeneration With Brain Iron Accumulation
Oculodentodigital Dysplasia
Hippocampal Sclerosis
TTPA
Familial Isolated Vitamin E Deficiency
GNAS
Meconium Aspiration Syndrome
Mccune-Albright Syndrome
Macrophage Activation Syndrome
GALE
Galactose Epimerase Deficiency
ACSF3
Combined Malonic And Methylmalonic Acidemia
FBLN5
Cutis Laxa
ELN
Cutis Laxa
MMAA
Vitamin B12-Responsive Methylmalonic Acidemia
IFIH1
Singleton Merten Syndrome
PYCR1
Cutis Laxa
EFEMP2
Cutis Laxa
WDR45
Neurodegeneration With Brain Iron Accumulation
TRNL1
Merrf Syndrome
NRAS
Neurocutaneous Melanosis
TRNP
Merrf Syndrome
TRNF
Merrf Syndrome
LTBP4
Cutis Laxa
KCNK3
Pulmonary Hypertension, Primary, 4