All Diseases Index
1
- 17-beta-hydroxysteroid dehydrogenase deficiency
- 1p36 deletion syndrome
2
- 2-Hydroxyglutaric aciduria
- 22q11.2 deletion syndrome
3
- 3 hydroxyisobutyric aciduria
- 3 methylcrotonic aciduria
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
- 3-M syndrome
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Methylglutaconic aciduria
- 3c syndrome
4
- 48, XXXX
- 49 XXXXY syndrome
- 49, XXXXX
5
- 5-alpha-reductase deficiency
6
- 6-Pyruvoyltetrahydropterin synthase deficiency
A
- Aagenaes syndrome
- Aarskog-Scott syndrome
- Aase syndrome
- Abasia
- ABCD syndrome
- Abdallat Davis Farrage syndrome
- Abdominal aortic aneurysm
- Abdominal wall defect
- Aberrant subclavian artery
- Ablepharon macrostomia syndrome
- Abruzzo Erickson syndrome
- Absence of gluteal muscle
- Absence seizure
- Acatalasemia
- Accessory navicular bone
- Accessory pancreas
- Achalasia
- Achard syndrome
- Achard-Thiers syndrome
- Acheiropodia
- Achondrogenesis
- Achondroplasia
- Achromatopsia
- Acitretin
- Ackerman syndrome
- Acne vulgaris
- Acoustic neuroma
- Acrocallosal syndrome
- Acrocyanosis
- Acrodermatitis
- Acrodermatitis enteropathica
- Acrodysostosis
- Acrofacial dysostosis, Nager type