Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Agammaglobulinemia, X-Linked; XLA 300755
Bruton tyrosine kinase; BTK 300300
  • Immunology, Adult
  • Immunology, Paediatric
Alagille Syndrome 1; ALGS1 118450
jagged 1; JAG1 601920
  • Cardiology, Paediatric
  • Hepatology, Paediatric
  • Paediatrics
Alagille Syndrome 2; ALGS2 610205
notch 2; NOTCH2 600275
  • Clinical Genetics
Alexander Disease; ALXDRD 203450
glial fibrillary acidic protein; GFAP 137780
  • Metabolic Medicine, Paediatric
  • Neurology, Adult
  • Neurology, Paediatric
Allan-Herndon-Dudley Syndrome; AHDS 300523
solute carrier family 16 member 2; SLC16A2 300095
  • Neurology, Paediatric
  • Paediatrics
Alpha-1-Antitrypsin Deficiency; A1ATD 613490
serpin family A, member 1; SERPINA1 107400
  • Hepatology, Adult
  • Metabolic Medicine, Adult
Alpha-Thalassemia 604131
hemoglobin subunit alpha 1; HBA1 141800
hemoglobin subunit alpha 2; HBA2 141850
  • Haematology, Adult
  • Haematology, Paediatric
Alport Syndrome, Autosomal Dominant 104200
collagen, type IV, alpha 3 chain; COL4A3 120070
  • Clinical Genetics
  • Nephrology, Adult
  • Nephrology, Paediatric
Alport Syndrome, Autosomal Recessive 203780
collagen, type IV, alpha 3 chain; COL4A3 120070
collagen, type IV, alpha 4 chain; COL4A4 120131
  • Clinical Genetics
  • Nephrology, Paediatric
Alport Syndrome, X-Linked; ATS 301050
collagen, type IV, alpha 5 chain; COL4A5 303630
  • Clinical Genetics
  • Nephrology, Adult

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