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 ×

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

ORPHA:656

Genetic alopecia

ORPHA:481771

Genetic central precocious puberty

Genetic CPP

ORPHA:650182

Genetic dementia

ORPHA:158124

Genetic difference of sex development

Genetic DSD · Genetic disorder of sex development

ORPHA:325690

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

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

ORPHA:158038