Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Alstrom Syndrome; ALMS 203800
ALMS1, centrosome and basal body associated protein; ALMS1 606844
  • Cardiology, Paediatric
  • Endocrinology, Paediatric
  • Paediatrics
  • Highly Specialised Services
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins; ACDMPV 265380
forkhead box F; FOXF1 601089
  • Clinical Genetics
Alzheimer Disease 3; AD 607822
presenilin 1; PSEN1 104311
  • Clinical Genetics
  • Neurology, Adult
Alzheimer Disease; AD 104300
amyloid beta precursor protein; APP 104760
  • Clinical Genetics
  • Neurology, Adult
Amegakaryocytic Thrombocytopenia, Congenital; CAMT 604498
MPL proto-oncogene, thrombopoietin receptor; MPL 159530
  • Clinical Genetics
  • Haematology, Paediatric
Amyloidosis, Hereditary, Transthyretin-Related 105210
transthyretin; TTR 176300
  • Neurology, Adult
Amyotrophic Lateral Sclerosis 1; ALS1 105400
superoxide dismutase 1, soluble; SOD1 147450
  • Neurology, Adult
Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia; ALS10 612069
TAR DNA binding protein; TARDBP 605078
  • Clinical Genetics
  • Neurology, Adult
Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia; ALS6 608030
FUS RNA binding protein; FUS 137070
  • Clinical Genetics
  • Neurology, Adult
Androgen Insensitivity Syndrome; AIS 300068
androgen receptor; AR 313700
  • Clinical Genetics
  • Endocrinology, Adult
  • Endocrinology, Paediatric
  • Gynaecology

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