Rare Disease Library

Foveal hypoplasia-presenile cataract syndrome

O'Donnell-Pappas syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Donohue syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Down syndrome

Trisomy 21

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Ermine phenotype

O'Doherty syndrome · Pigmentary disorder with hearing loss

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Hyperzincemia and hypercalprotectinemia

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

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

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

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Rowell syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Thakker-Donnai syndrome

Dysmorphism-multiple structural anomalies syndrome

Toxic epidermal necrolysis

Lyell syndrome

Trisomy 13 syndrome

Patau syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome