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"

11 matching diseasesClear search ×

Genetic 46,XY difference of sex development

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

ORPHA:325706

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,XX difference of sex development

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

ORPHA:2982

46,XY difference of sex development

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

ORPHA:98085

46,XY ovotesticular difference of sex development

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

ORPHA:325345

Genetic 46,XX difference of sex development

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

ORPHA:325697

Genetic central precocious puberty

Genetic CPP

ORPHA:650182

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

ORPHA:325690

Genetic interstitial lung disease

Genetic ILD

ORPHA:264992

Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability

Genetic MCA · Genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism)

ORPHA:330206

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

ORPHA:158038