Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Machado-Joseph Disease; MJD 109150
ataxin 3; ATXN3 607047
  • Neurology, Adult
Macular Dystrophy, Vitelliform, 2; VMD2 153700
bestrophin 1; BEST1 607854
  • Clinical Genetics
  • Ophthalmology, Adult
  • Ophthalmology, Paediatric
Macular Dystrophy, Vitelliform, 3; VMD3 608161
bestrophin 1; BEST1 607854
  • Clinical Genetics
  • Ophthalmology, Adult
Male Infertility Due to Y Chromosome Deletions 0
Spermatogenic Failure, Y-Linked, 1; SPGFY1 400042
Spermatogenic Failure, Y-Linked, 2; SPGFY2 415000
laboratory specific test 0
  • Clinical Genetics
  • Endocrinology, Adult
  • Urology
Malignant Hyperthermia, Susceptibility To, 1; MHS1 145600
ryanodine receptor 1; RYR1 180901
  • Clinical Genetics
Malignant Hyperthermia, Susceptibility To, 5 601887
calcium voltage-gated channel subunit alpha 1S; CACNA1S 114208
  • Clinical Genetics
Mandibuloacral Dysplasia With Type A Lipodystrophy; MADA 248370
lamin A/C; LMNA 150330
  • Endocrinology, Adult
Mandibulofacial Dysostosis, Guion-Almeida Type; MFDGA 610536
elongation factor Tu GTP binding domain containing 2; EFTUD2 603892
  • Clinical Genetics
Marfan Syndrome; MFS 154700
fibrillin 1; FBN1 134797
  • Cardiology, Adult
  • Cardiology, Paediatric
  • Clinical Genetics
Maturity-Onset Diabetes Of The Young, Type 1; MODY1 125850
hepatocyte nuclear factor 4, alpha; HNF4A 600281
  • Endocrinology, Paediatric
  • Metabolic Medicine, Paediatric

Filters

Search filters