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"

8 matching diseasesClear search ×

Genetic 46,XY difference of sex development of endocrine origin

Genetic 46,XY DSD of endocrine origin · Genetic 46,XY disorder of sex development of endocrine origin

ORPHA:325713

46,XY difference of sex development of endocrine origin

46,XY DSD of endocrine origin · 46,XY disorder of sex development of endocrine origin

ORPHA:325351

Dysostosis of genetic origin

ORPHA:404568

Genetic 46,XX difference of sex development

Genetic 46,XX DSD · Genetic 46,XX disorder of sex development

ORPHA:325697

Genetic 46,XY difference of sex development

Genetic 46,XY DSD · Genetic 46,XY disorder of sex development

ORPHA:325706

Genetic endocrine growth disease

ORPHA:156643

Osteonecrosis of genetic origin

Bone necrosis of genetic origin

ORPHA:399380

Rare genetic endocrine disease

ORPHA:156638