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


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

Conditions and Genetic Syndromes