Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant; ECTD10A 129490
ectodysplasin A receptor; EDAR 604095
EDAR associated death domain; EDARADD 606603
  • Clinical Genetics
  • Dental Surgery, Paediatric
  • Dermatology, Adult
  • Dermatology, Paediatric
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive; ECTD10B 224900
ectodysplasin A receptor; EDAR 604095
EDAR associated death domain; EDARADD 606603
  • Clinical Genetics
  • Dental Surgery, Paediatric
  • Dermatology, Paediatric
Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency 300291
inhibitor of nuclear factor kappa B kinase subunit gamma; IKBKG 300248
  • Clinical Genetics
  • Immunology, Paediatric
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked; XHED 305100
ectodysplasin A; EDA 300451
  • Clinical Genetics
  • Dental Surgery, Paediatric
  • Dermatology, Adult
  • Dermatology, Paediatric
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3; EEC3 604292
tumor protein p63; TP63 603273
  • Clinical Genetics
  • Dental Surgery, Paediatric
  • Dermatology, Paediatric
Ehlers-Danlos Syndrome, Classic Type 130000
collagen, type V, alpha 1; COL5A1 120215
  • Clinical Genetics
  • Dermatology, Adult
  • Dermatology, Paediatric
  • Rheumatology
  • Highly Specialised Services
Ehlers-Danlos Syndrome, Type II 130010
collagen, type V, alpha 2 chain; COL5A2 120190
  • Clinical Genetics
  • Dermatology, Adult
  • Dermatology, Paediatric
  • Rheumatology
  • Highly Specialised Services
Ehlers-Danlos Syndrome, Type IV, Autosomal Dominant 130050
collagen, type III, alpha 1 chain; COL3A1 120180
  • Clinical Genetics
  • Dermatology, Adult
  • Dermatology, Paediatric
  • Paediatrics
  • Rheumatology
Ehlers-Danlos Syndrome, Type VI; EDS6 225400
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1; PLOD1 153454
  • Clinical Genetics
  • Highly Specialised Services
Ellis-Van Creveld Syndrome; EVC 225500
EvC ciliary complex subunit 1; EVC 604831
EvC ciliary complex subunit 2; EVC2 607261
  • Clinical Genetics

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