Online Directory

Section 1A

Disorders MIM Genes MIM Specialties Commissioning
17-Beta Hydroxysteroid Dehydrogenase III Deficiency 264300
hydroxysteroid 17-beta dehydrogenase 3; HSD17B3 605573
  • Clinical Genetics
  • Endocrinology, Adult
  • Endocrinology, Paediatric
  • Gynaecology
Adrenal Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency 201810
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2; HSD3B2 613890
  • Chemical Pathology
  • Clinical Genetics
  • Endocrinology, Adult
  • Endocrinology, Paediatric
46,XY Sex Reversal 1; SRXY1 400044
sex determining region Y; SRY 480000
  • Clinical Genetics
  • Endocrinology, Adult
  • Endocrinology, Paediatric
  • Gynaecology
46,XY Sex Reversal 3; SRXY3 612965
nuclear receptor subfamily 5, group A, member 1; NR5A1 184757
  • Clinical Genetics
  • Endocrinology, Adult
  • Endocrinology, Paediatric
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

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