Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Ichthyosis Bullosa Of Siemens; IBS 146800
keratin 2; KRT2 600194
  • Dermatology, Adult
  • Dermatology, Paediatric
Ichthyosis, Congenital, Autosomal Recessive 1; ARCI1 242300
transglutaminase 1; TGM1 190195
  • Clinical Genetics
  • Dermatology, Paediatric
  • Highly Specialised Services
Ichthyosis, Congenital, Autosomal Recessive 2; ARCI2 242100
arachidonate 12-lipoxygenase, 12R type; ALOX12B 603741
  • Clinical Genetics
  • Dermatology, Paediatric
  • Highly Specialised Services
Ichthyosis, Congenital, Autosomal Recessive 3; ARCI3 606545
arachidonate lipoxygenase 3; ALOXE3 607206
  • Clinical Genetics
  • Dermatology, Paediatric
  • Highly Specialised Services
Ichthyosis, Congenital, Autosomal Recessive 5; ARCI5 604777
cytochrome P450, family 4, subfamily F, member 22; CYP4F22 611495
  • Clinical Genetics
  • Dermatology, Paediatric
  • Highly Specialised Services
Ichthyosis, Congenital, Autosomal Recessive 6; ARCI6 612281
NIPA-like domain containing 4; NIPAL4 609383
  • Clinical Genetics
  • Dermatology, Paediatric
  • Highly Specialised Services
Ichthyosis, X-Linked; XLI 308100
steroid sulfatase; STS 300747
  • Chemical Pathology
  • Clinical Genetics
  • Dermatology, Paediatric
Immunodeficiency 21; IMD21 614172
GATA binding protein 2; GATA2 137295
  • Clinical Genetics
  • Haematology, Adult
  • Haematology, Paediatric
  • Oncology, Adult
  • Oncology, Paediatric
  • Prescribed Specialised Services
Immunodeficiency With Hyper-IgM, Type 1; HIGM1 308230
CD40 ligand; CD40LG 300386
  • Chemical Pathology
  • Immunology, Paediatric
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked; IPEX 304790
forkhead box P3; FOXP3 300292
  • Clinical Genetics
  • Endocrinology, Paediatric
  • Immunology, Paediatric
  • Metabolic Medicine, Paediatric
  • Paediatrics

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