Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
Aarskog-Scott Syndrome; ASS 305400
FYVE, RhoGEF and PH domain containing 1; FGD1 300546
  • Clinical Genetics
Achondrogenesis, Type II; ACG2 200610
collagen, type II, alpha 1 chain; COL2A1 120140
  • Clinical Genetics
  • Histopathology
Achondroplasia; ACH 100800
fibroblast growth factor receptor 3; FGFR3 134934
  • Clinical Genetics
  • Histopathology
  • Obstetrics
  • Paediatrics
Acrodysostosis-1, with or without Hormone Resistance; ACRDYS1 101800
protein kinase cAMP-dependent type I regulatory subunit alpha; PRKAR1A 188830
  • Clinical Genetics
Acrodysostosis-2, with or without Hormone Resistance; ACRDYS2 614613
phosphodiesterase 4D; PDE4D 600129
  • Clinical Genetics
Acromicric Dysplasia; ACMICD 102370
fibrillin 1; FBN1 134797
  • Clinical Genetics
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

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