Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Canavan Disease 271900
aspartoacylase; ASPA 608034
  • Neurology, Paediatric
Cantu Syndrome 239850
ATP-binding cassette, sub-family C, member 9; ABCC9 601439
  • Clinical Genetics
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To 237300
carbamoyl-phosphate synthase 1; CPS1 608307
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
Cardiomyopathy, Dilated, 1A; CMD1A 115200
lamin A/C; LMNA 150330
myosin binding protein C, cardiac; MYBPC3 600958
  • Cardiology, Adult
  • Cardiology, Paediatric
Cardiomyopathy, Dilated, 1D; CMD1D 601494
troponin T2, cardiac type; TNNT2 191045
  • Cardiology, Adult
  • Cardiology, Paediatric
myosin binding protein C, cardiac; MYBPC3 600958
Cardiomyopathy, Dilated, 1S; CMD1S 613426
myosin heavy chain 7; MYH7 160760
  • Cardiology, Adult
  • Cardiology, Paediatric
Cardiomyopathy, Familial Hypertrophic, 1; CMH1 192600
myosin heavy chain 7; MYH7 160760
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics
Cardiomyopathy, Familial Hypertrophic, 2; CMH2 115195
troponin T2, cardiac type; TNNT2 191045
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics
Cardiomyopathy, Familial Hypertrophic, 4; CMH4 115197
myosin binding protein C, cardiac; MYBPC3 600958
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics

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