Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Galactokinase Deficiency 230200
galactokinase 1; GALK1 604313
  • Clinical Genetics
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
  • Prescribed Specialised Services
Galactosemia 230400
galactose-1-phosphate uridylyltransferase; GALT 606999
  • Metabolic Medicine, Paediatric
Galactosialidosis; GSL 256540
cathepsin A; CTSA 613111
  • Clinical Genetics
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
  • Prescribed Specialised Services
Gastric Cancer, Hereditary Diffuse; HDGC 137215
cadherin 1; CDH1 192090
  • Oncology, Adult
Gaucher Disease, Atypical, Due To Saposin C Deficiency 610539
prosaposin; PSAP 176801
  • Clinical Genetics
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
Gaucher Disease, Type I 230800
glucosylceramidase beta; GBA 606463
  • Metabolic Medicine, Paediatric
  • Highly Specialised Services
Gaucher Disease, Type II 230900
glucosylceramidase beta; GBA 606463
  • Metabolic Medicine, Paediatric
  • Highly Specialised Services
Gaucher Disease, Type III 231000
glucosylceramidase beta; GBA 606463
  • Metabolic Medicine, Paediatric
  • Highly Specialised Services
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis; HGPPS 607313
roundabout guidance receptor 3; ROBO3 608630
  • Clinical Genetics
Geleophysic Dysplasia 2; GPHYSD2 614185
fibrillin 1; FBN1 134797
  • Clinical Genetics

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