Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Acyl-CoA Dehydrogenase, Medium-Chain, Deficiency Of; ACADMD 201450
acyl-CoA dehydrogenase, C-4 to C-12 straight chain; ACADM 607008
  • Chemical Pathology
  • Clinical Genetics
  • Paediatrics
Myoadenylate Deaminase Deficiency, Myopathy Due To, Included; MMDD 615511
adenosine monophosphate deaminase 1; AMPD1 102770
  • Metabolic Medicine, Paediatric
Adrenal Hyperplasia, Congenital, due to 17-Alpha-Hydroxylase Deficiency 202110
cytochrome P450, family 17, subfamily A, member 1; CYP17A1 609300
  • Chemical Pathology
  • Clinical Genetics
  • Endocrinology, Adult
  • Endocrinology, Paediatric
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency 201910
cytochrome P450, family 21, subfamily A, member 2; CYP21A2 613815
  • Endocrinology, Adult
  • Endocrinology, Paediatric
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency; CAH (NIPD - Diagnostic Linked Haplotype testing); . 0
cytochrome P450, family 21, subfamily A, member 2; CYP21A2 613815
  • Clinical Genetics
  • Obstetrics
  • Prescribed Specialised Services
Adrenal Hyperplasia, Congenital, due to Steroid 11-Beta-Hydroxylase Deficiency 202010
cytochrome P450, family 11, subfamily B, member 1; CYP11B1 610613
  • Clinical Genetics
  • Endocrinology, Adult
  • Endocrinology, Paediatric
  • Metabolic Medicine, Adult
  • Metabolic Medicine, Paediatric
Adrenal Hypoplasia, Congenital; AHC 300200
nuclear receptor subfamily 0, group B, member 1; NR0B1 300473
  • Endocrinology, Adult
  • Endocrinology, Paediatric
Adrenoleukodystrophy; ALD 300100
ATP-binding cassette, sub-family D, member 1; ABCD1 300371
  • Neurology, Adult
  • Neurology, Paediatric
ADULT Syndrome 103285
tumor protein p63; TP63 603273
  • Clinical Genetics
  • Dental Surgery, Paediatric
  • Dermatology, Paediatric
Afibrinogenemia, Congenital; . 202400
fibrinogen alpha chain; FGA 134820
fibrinogen beta chain; FGB 134830
fibrinogen gamma chain; FGG 134850
  • Haematology, Adult
  • Haematology, Paediatric
  • Prescribed Specialised Services

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