Rare Disease Library

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Alport syndrome

Alport hearing loss-nephropathy · Alport deafness-nephropathy

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Auriculocondylar syndrome

Question mark ear syndrome

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Beta-mercaptolactate cysteine disulfiduria

Ampola syndrome · MCDU

Coxoauricular syndrome

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Oculoauriculofrontonasal syndrome

OAFNS

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

Temple syndrome