GARD Rare Disease Listings


GARD Summary
Absence of fingerprints congenital milia

Also known as: Absence of dermatoglyphics congenital milia Baird syndrome Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities Basan syndrome




GARD Summary
Absence of Tibia

Also known as: Bilateral absence of the tibia Tibial hemimelia Tibia, absence of




GARD Summary
Absent patella

Also known as: Patella aplasia-hypoplasia PTLAH Familial absence of the patella Familial aplasia of the patella (subtype)


GARD Summary
Acalvaria

Also known as: Primary acalvaria



GARD Summary
Acanthocheilonemiasis

Also known as: Dipetalonemiasis Dipetalonema infections Acanthocheilonema perstans infection Mansonella perstans




GARD Summary
Acardia

Also known as: Congenital absence of the heart


GARD Summary
Acatalasemia

Also known as: Catalase deficiency Acatalasia