Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Fabry Disease 301500
galactosidase, alpha; GLA 300644
  • Cardiology, Adult
  • Dermatology, Adult
  • Endocrinology, Adult
  • Endocrinology, Paediatric
  • Metabolic Medicine, Paediatric
  • Nephrology, Adult
  • Nephrology, Paediatric
  • Neurology, Adult
  • Ophthalmology, Adult
  • Highly Specialised Services
Facioscapulohumeral Muscular Dystrophy 1; FSHD1 158900
double homeobox 4; DUX4 606009
  • Neurology, Adult
  • Neurology, Paediatric
Facioscapulohumeral Muscular Dystrophy 2; FSHD2 158901
structural maintenance of chromosomes flexible hinge domain containing 1; SMCHD1 614982
  • Clinical Genetics
  • Neurology, Adult
  • Neurology, Paediatric
Factor V Deficiency 227400
coagulation factor V; F5 612309
  • Haematology, Adult
  • Prescribed Specialised Services
Factor VII Deficiency; . 227500
coagulation factor VII; F7 613878
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services
Factor X Deficiency; . 227600
coagulation factor X; F10 613872
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services
Factor XI Deficiency; . 612416
coagulation factor XI; F11 264900
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services
Factor XIII, A Subunit, Deficiency Of; . 613225
Factor XIII, B Subunit, Deficiency Of; . 613235
coagulation factor XIII B chain; F13B 134580
coagulation factor XIII A chain; F13A1 134570
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services
Familial Adenomatous Polyposis 1; FAP1 175100
APC, WNT signaling pathway regulator; APC 611731
  • Clinical Genetics
  • Oncology, Adult
Familial Adenomatous Polyposis 2; FAP2 608456
mutY DNA glycosylase; MUTYH 604933
  • Clinical Genetics
  • Oncology, Adult

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