Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
N-Acetylglutamate Synthase Deficiency; NAGSD 237310
N-acetylglutamate synthase; NAGS 608300
  • Clinical Genetics
  • Hepatology, Paediatric
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
  • Neurology, Adult
  • Neurology, Paediatric
  • Prescribed Specialised Services
Nail-Patella Syndrome; NPS 161200
LIM homeobox transcription factor 1, beta; LMX1B 602575
  • Clinical Genetics
Nephronophthisis 1; NPHP1 256100
nephrocystin 1; NPHP1 607100
  • Nephrology, Adult
  • Nephrology, Paediatric
Nephrotic Syndrome, Type 2; NPHS2 600995
NPHS2, podocin; NPHS2 604766
  • Clinical Genetics
  • Nephrology, Adult
  • Nephrology, Paediatric
Netherton Syndrome; NETH 256500
serine peptidase inhibitor, Kazal type 5; SPINK5 605010
  • Clinical Genetics
  • Dermatology, Paediatric
Neuraminidase Deficiency 256550
sialidase 1 (lysosomal sialidase); NEU1 608272
  • Clinical Genetics
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
  • Prescribed Specialised Services
Neurodegeneration With Brain Iron Accumulation 2A; NBIA2A 256600
phospholipase A2, group VI; PLA2G6 603604
  • Clinical Genetics
  • Neurology, Paediatric
Neurodegeneration With Brain Iron Accumulation 3; NBIA3 606159
ferritin light chain; FTL 134790
  • Neurology, Paediatric
Neurodegeneration With Brain Iron Accumulation 1; NBIA1 234200
pantothenate kinase 2; PANK2 606157
  • Clinical Genetics
  • Neurology, Adult
  • Neurology, Paediatric
Neurofibromatosis, Type I; NF1 162200
neurofibromin 1; NF1 613113
  • Neurology, Adult
  • Neurology, Paediatric

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