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"

18 matching diseasesClear search ×

Genetic central precocious puberty

Genetic CPP

ORPHA:650182

Genetic central precocious puberty in female

Genetic central precocious puberty in girl · Genetic CPP in female

ORPHA:650077

Genetic central precocious puberty in male

Genetic central precocious puberty in boy · Genetic CPP in male

ORPHA:650097

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 alopecia

ORPHA:481771

Genetic cardiac tumor

ORPHA:271841

Genetic dementia

ORPHA:158124

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

ORPHA:325690

Genetic eye tumor

ORPHA:183619

Genetic facial cleft

Genetic craniofacial cleft

ORPHA:414726

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

Genetic obesity

ORPHA:77828

Genetic urticaria

ORPHA:182734

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

ORPHA:656

Non-genetic central precocious puberty in male

Non-genetic central precocious puberty in boy · Non-genetic CPP in male

ORPHA:650102

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

ORPHA:158038