Rare Disease Library

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autoimmune hepatitis type 1

AIH type 1

Autoimmune pancreatitis type 1

AIP type 1 · IgG4-related pancreatitis

Autoimmune polyendocrinopathy

APS · Autoimmune polyglandular syndrome

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

Cockayne syndrome type 1

Cockayne syndrome type I

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

FG syndrome type 1

Opitz-Kaveggia syndrome

Insulin autoimmune syndrome

Hirata disease

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Polyendocrine-polyneuropathy syndrome

Short rib-polydactyly syndrome, Saldino-Noonan type

Short rib-polydactyly syndrome type 1