Rare Disease Library

Autoerythrocyte sensitization syndrome

GDS · Gardner-Diamond syndrome

Blue diaper syndrome

Drummond syndrome · Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome

Brachydactyly-nystagmus-cerebellar ataxia syndrome

Biemond syndrome

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

GAPO syndrome

Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome

Gardner syndrome

Genitopalatocardiac syndrome

Gardner-Silengo-Wachtel syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Dias-Logan syndrome

Monoamine oxidase A deficiency

Brunner syndrome

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Werner syndrome

Adult progeria · WS

Wolfram syndrome

Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome