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"

6 matching diseasesClear search ×

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

ORPHA:1658

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Isolated congenital adermatoglyphia

Congenital absence of fingerprints · Immigration delay disease

ORPHA:289465

Isolated partial vaginal agenesis

Congenital absence of vagina

ORPHA:96269

OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome

OBSOLETE: Basan syndrome

ORPHA:1235

Oley syndrome

Congenital hypotrichosis-milia syndrome

ORPHA:79458