Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Hajdu-Cheney Syndrome; HJCYS 102500
notch 2; NOTCH2 600275
  • Clinical Genetics
Hemihyperplasia, Isolated; IH 235000
cyclin-dependent kinase inhibitor 2A; CDKN2A 600160
H19, imprinted maternally expressed transcript (non-protein coding); H19 103280
insulin-like growth factor 2; IGF2 147470
KCNQ1 opposite strand/antisense transcript 1 (non-protein coding); KCNQ1OT1 604115
  • Clinical Genetics
  • Paediatrics
Hemochromatosis, Type 1; HFE 235200
hemochromatosis; HFE 613609
  • Clinical Genetics
  • Hepatology, Adult
Hemochromatosis, Type 2A; HFE2A 602390
hemochromatosis type 2 (juvenile); HFE2 608374
  • Clinical Genetics
  • Hepatology, Paediatric
Hemochromatosis, Type 2B; HFE2B 613313
hepcidin antimicrobial peptide; HAMP 606464
  • Clinical Genetics
  • Hepatology, Paediatric
Hemochromatosis, Type 4; HFE4 606069
solute carrier family 40 member 1; SLC40A1 604653
  • Clinical Genetics
  • Hepatology, Adult
Hemoglobin - Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain 142309
hemoglobin subunit alpha 1; HBA1 141800
hemoglobin subunit alpha 2; HBA2 141850
hemoglobin subunit beta; HBB 141900
  • Haematology, Adult
  • Haematology, Paediatric
Hemoglobin - Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain 142309
hemoglobin subunit alpha 1; HBA1 141800
hemoglobin subunit alpha 2; HBA2 141850
hemoglobin subunit beta; HBB 141900
hemoglobin subunit delta; HBD 142000
hemoglobin subunit gamma 1; HBG1 142200
hemoglobin subunit gamma 2; HBG2 142250
  • Haematology, Adult
  • Haematology, Paediatric
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1; AHUS1 235400
CD46 molecule; CD46 120920
complement factor H; CFH 134370
complement factor I; CFI 217030
  • Clinical Genetics
  • Haematology, Adult
  • Haematology, Paediatric
  • Nephrology, Adult
  • Nephrology, Paediatric
Hemophagocytic Lymphohistiocytosis, Familial, 2; FHL2 603553
perforin 1; PRF1 170280
  • Clinical Genetics

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