GARD Rare Disease Listings


GARD Summary
Pachydermoperiostosis

Also known as: Primary hypertrophic osteoarthropathy Idiopathic hypertrophic osteoarthropathy PDP Touraine Solente Gole syndrome


GARD Summary
Pachygyria

Also known as: Macrogyria Broad gyri of cerebrum Large gyri of cerebrum





GARD Summary
Pacman dysplasia

Also known as: Pacman syndrome Epiphyseal stippling with osteoclastic hyperplasia


GARD Summary
PACS1-related syndrome

Also known as: Autosomal dominant intellectual disability-17 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Schuurs-Hoeijmakers syndrome SHMS




GARD Summary
PAGOD syndrome

Also known as: Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome Pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia Kennerknecht Sorgo Oberhoffer syndrome Agonadism with multiple internal malformations