Disease Index
- Acute Hepatic Porphyria
- Hereditary ATTR Amyloidosis
- Primary Hyperoxaluria Type 1
- 10q22.3q23 microdeletion syndrome
- 11-beta-hydroxylase deficiency
- 12q14 microdeletion syndrome
- 15q11.2 microdeletion
- 15q13.3 microdeletion syndrome
- 15q13.3 microduplication syndrome
- 15q24 microdeletion syndrome
- 16p11.2 deletion syndrome
- 16p11.2 duplication
- 16q24.3 microdeletion syndrome
- 17-alpha-hydroxylase deficiency
- Aagenaes syndrome
- Aarskog syndrome
- Abdominal cystic lymphangioma
- Aberrant subclavian artery
- Abetalipoproteinemia
- Ablepharon macrostomia syndrome
- Abruzzo-Erickson syndrome
- Baird syndrome - Absence of Fingerprints
- Acalvaria
- Acanthocheilonemiasis
- Acanthoma
- Acatalasemia
- Behcet's Syndrome
- Cori Disease
- Crigler-Najjar Syndrome
- Dandy-Walker Malformation
- Factor XI deficiency
- Pompe Disease
- Porphyria Cutenea Tarda
- Primary Ciliary Dyskinesia
- Pyruvate carboxylase deficiency
- Pyruvate dehydrogenase complex deficiency (PDCD)
- Pyruvate Kinase Deficiency
- Q Fever
- Rasmussen encephalitis
- Sheehan Syndrome
- Tethered cord syndrome
- UGDH Related Disorder