Lists and Searchable Sites

• Dysmorphic Syndromes A list of dysmorphic syndrome linked to OMIM
• Genetic Conditions A list

• Genetic Related Diseases and Disorders

• GeneClinics an expert-authored, peer-reviewed clinical genetic information resource consisting of concise descriptions of specific
inherited disorders and authoritative, current information on the role of genetic testing in the diagnosis, management, and genetic
counseling of patients with these inherited conditions

• Geneclinics Database list of conditions addressed

• Genetic Alliance Online Directory of Genetic Resources

• Metabolic genetic tests list of metabolic tests for specific diseases

• National Organization for Rare Disorders (NORD) List of Conditons

• Online Mendelian Inheritance of Man (OMIM)  a catalog of human genes and genetic disorders developed for the Internet by
National Center for Biotechnology Information (NCBI) and the National Library of Medicine.

Specific Conditions

• Achondroplasia geneclinics

• Catch 22 (22q11 deletion) geneclinics

• Cephalic Disorders for parents

• Cleft lip and palate

• Cleft lip and palate great information site for parents

• Craniosynostosis

• Cystic Fibrosis Bibliography from National Library of Medicine

• Cystic adenomatoid malformation of the lung from CHOP

• Diaphragmatic hernia patient information from CHOP

• Down syndrome screening

• Esophageal atresia

• Fragile X Policy Statement American College of Medical Genetics

• Gastroschisis from CHOP

• Hydrocephalus from CHOP

• Mitochondrial disorders

• Omphalocele from CHOP

• Sickle Cell Anemia

• Sickle Cell and Hemoglobinopathies

• Spina bifida from CHOP

• Tay Sacks

• Tay Sacks (GM2 gangliosidoses) geneclinics

• Twin to Twin Transfusion Association

• Twin to twin transfusion syndrome from CHOP