Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Tay-Sachs Disease; TSD 272800
hexosaminidase subunit alpha; HEXA 606869
  • Clinical Genetics
  • Metabolic Medicine, Paediatric
  • Neurology, Paediatric
Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber; HHT 187300
endoglin; ENG 131195
  • Dermatology, Adult
  • Dermatology, Paediatric
  • Gastroenterology, Adult
  • Gastroenterology, Paediatric
  • Neurology, Adult
  • Neurology, Paediatric
  • Respiratory Medicine, Adult
  • Respiratory Medicine, Paediatric
Telangiectasia, Hereditary Hemorrhagic, Type 2; HHT2 600376
activin A receptor-like type 1; ACVRL1 601284
  • Dermatology, Adult
  • Dermatology, Paediatric
  • Gastroenterology, Adult
  • Gastroenterology, Paediatric
  • Neurology, Adult
  • Neurology, Paediatric
  • Respiratory Medicine, Adult
  • Respiratory Medicine, Paediatric
Telangiectasia, Hereditary Hemorrhagic, Type 5; HHT5 615506
growth differentiation factor 2; GDF2 605120
  • Dermatology, Adult
  • Dermatology, Paediatric
  • Gastroenterology, Adult
  • Gastroenterology, Paediatric
  • Neurology, Adult
  • Neurology, Paediatric
  • Respiratory Medicine, Adult
  • Respiratory Medicine, Paediatric
  • Prescribed Specialised Services
Thanatophoric Dysplasia, Type I; TD1 187600
fibroblast growth factor receptor 3; FGFR3 134934
  • Clinical Genetics
  • Histopathology
  • Obstetrics
Thanatophoric Dysplasia, Type II; TD2 187601
fibroblast growth factor receptor 3; FGFR3 134934
  • Clinical Genetics
  • Histopathology
  • Obstetrics
Thiamine-Responsive Megaloblastic Anemia Syndrome; TRMA 249270
solute carrier family 19 member 2; SLC19A2 603941
  • Clinical Genetics
  • Paediatrics
Thrombocytopenia-Absent Radius Syndrome; TAR 274000
RNA binding motif protein 8A; RBM8A 605313
  • Clinical Genetics
Thrombophilia Due To Activated Protein C Resistance; THPH2 188055
coagulation factor V; F5 612309
  • Haematology, Adult
  • Prescribed Specialised Services
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant; THPH3 176860
protein C, inactivator of coagulation factors Va and VIIIa; PROC 612283
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services

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