Rare Disease Library

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Hermansky-Pudlak syndrome

HPS

Hypergonadotropic hypogonadism-cataract syndrome

Lubinsky syndrome

Hyperzincemia and hypercalprotectinemia

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome · PAMI syndrome

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

MRKH syndrome · Rokitansky syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

PsAPASH syndrome

Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Trisomy 13 syndrome

Patau syndrome