Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

25 matching diseasesClear search ×

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

ORPHA:2261

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

ORPHA:754

Cleidorhizomelic syndrome

Rhizomelic shortness with clavicular defect · Wallis-Zieff-Goldblatt syndrome

ORPHA:1453

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

ORPHA:2325

Focal dermal hypoplasia

Goltz syndrome · Goltz-Gorlin syndrome

ORPHA:2092

Frontofacionasal dysplasia

Gollop syndrome

ORPHA:1791

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

ORPHA:351

Goldenhar syndrome

Facioauriculovertebral sequence

ORPHA:374

Goldmann-Favre syndrome

Enhanced S-cone syndrome · Retinoschisis with early nyctalopia

ORPHA:53540

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

Gorham-Stout disease

Gorham disease · Gorham syndrome

ORPHA:73

Gorlin syndrome

Basal cell nevus syndrome · Gorlin-Goltz syndrome

ORPHA:377

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

ORPHA:140936

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

ORPHA:3237

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

ORPHA:3032

Odontochondrodysplasia

Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome · Goldblatt chondrodysplasia

ORPHA:166272

Radial ray hypoplasia-choanal atresia syndrome

Goldblatt-Viljoen syndrome

ORPHA:3026

Shprintzen-Goldberg syndrome

Marfanoid craniosynostosis syndrome · SGS

ORPHA:2462

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

ORPHA:357332

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

ORPHA:169105

W syndrome

Pallister-W syndrome

ORPHA:2804

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

ORPHA:3444

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS

ORPHA:1667