Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Bannayan-Riley-Ruvalcaba Syndrome; BRRS 153480
phosphatase and tensin homolog; PTEN 601728
  • Neurology, Paediatric
  • Oncology, Paediatric
Baraitser-Winter Syndrome 1; BRWS1 243310
actin, beta; ACTB 102630
  • Clinical Genetics
  • Neurology, Paediatric
Baraitser-Winter Syndrome 2; BRWS2 614583
actin, gamma 1; ACTG1 102560
  • Clinical Genetics
  • Neurology, Paediatric
Barth Syndrome; BTHS 302060
tafazzin; TAZ 300394
  • Cardiology, Paediatric
  • Paediatrics
  • Highly Specialised Services
Bartter Syndrome, Type 3; BARTS3 607364
chloride voltage-gated channel Kb; CLCNKB 602023
  • Clinical Genetics
  • Nephrology, Adult
  • Nephrology, Paediatric
Basal Cell Nevus Syndrome; BCNS 109400
patched 1; PTCH1 601309
  • Oncology, Adult
  • Oncology, Paediatric
Beare-Stevenson Cutis Gyrata Syndrome; BSTVS 123790
fibroblast growth factor receptor 2; FGFR2 176943
  • Clinical Genetics
Beckwith-Wiedemann Syndrome; BWS 130650
cyclin-dependent kinase inhibitor 1C; CDKN1C 600856
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
  • Fetal Medicine
  • Obstetrics
  • Paediatrics
Bernard-Soulier Syndrome; BSS 231200
glycoprotein IX platelet; GP9 173515
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services
Bestrophinopathy, Autosomal Recessive; ARB 611809
bestrophin 1; BEST1 607854
  • Clinical Genetics
  • Ophthalmology, Adult
  • Ophthalmology, Paediatric

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