Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Angelman Syndrome; AS 105830
non imprinted in Prader-Willi/Angelman syndrome 2; NIPA2 608146
small nuclear ribonucleoprotein polypeptide N; SNRPN 182279
ubiquitin protein ligase E3A; UBE3A 601623
  • Neurology, Paediatric
  • Paediatrics
  • Paediatrics (Community)
Angioedema, Hereditary, Type I; HAE1 106100
serpin family G, member 1; SERPING1 606860
  • Clinical Genetics
  • Immunology, Adult
  • Immunology, Paediatric
Angioedema, Hereditary, Type III; HAE3 610618
coagulation factor XII; F12 610619
  • Clinical Genetics
  • Immunology, Adult
  • Immunology, Paediatric
Aniridia 1; AN1 106210
paired box 6; PAX6 607108
  • Ophthalmology, Adult
  • Ophthalmology, Paediatric
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate 106260
tumor protein p63; TP63 603273
  • Clinical Genetics
  • Dental Surgery, Paediatric
  • Dermatology, Paediatric
Antithrombin III Deficiency; AT3D 613118
serpin family C, member 1; SERPINC1 107300
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis; ABS1 201750
cytochrome P450 oxidoreductase; POR 124015
  • Fetal Medicine
  • Paediatrics
  • Highly Specialised Services
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis; ABS2 207410
fibroblast growth factor receptor 2; FGFR2 176943
  • Fetal Medicine
  • Paediatrics
  • Highly Specialised Services
Aortic Aneurysm, Familial Thoracic 4; AAT4 132900
myosin heavy chain 11; MYH11 160745
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics
Aortic Aneurysm, Familial Thoracic 6; AAT6 611788
actin, alpha 2, smooth muscle, aorta; ACTA2 102620
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics

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