Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Deafness, Aminoglycoside-Induced 580000
mitochondrially encoded 12S RNA; MT-RNR1 561000
  • Audiology, Paediatric
Deafness, Autosomal Dominant 3A; DFNA3A 601544
gap junction protein, beta 2; GJB2 121011
  • Audiology, Paediatric
  • Clinical Genetics
  • Paediatrics
Deafness, Autosomal Recessive 1A; DFNB1A 220290
gap junction protein, beta 2; GJB2 121011
gap junction protein, beta 6; GJB6 604418
  • Audiology, Paediatric
  • Clinical Genetics
  • Paediatrics
Deafness, X-Linked 2; DFNX2 304400
POU class 3 homeobox 4; POU3F4 300039
  • Audiology, Adult
  • Audiology, Paediatric
  • Clinical Genetics
Delta Thalassemia 0
hemoglobin subunit delta; HBD 142000
  • Haematology, Adult
  • Haematology, Paediatric
Dentatorubral-Pallidoluysian Atrophy; DRPLA 125370
atrophin 1; ATN1 607462
  • Neurology, Adult
Denys-Drash Syndrome; DDS 194080
Wilms tumor 1; WT1 607102
  • Clinical Genetics
Diabetes Insipidus, Nephrogenic, X-Linked 304800
arginine vasopressin receptor 2; AVPR2 300538
  • Chemical Pathology
  • Clinical Genetics
  • Paediatrics
Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans 610549
insulin receptor; INSR 147670
  • Clinical Genetics
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
  • Paediatrics
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism; NDH 610199
GLIS family zinc finger 3; GLIS3 610192
  • Clinical Genetics
  • Endocrinology, Paediatric
  • Metabolic Medicine, Paediatric
  • Paediatrics

Filters

Search filters