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 ×

Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome

Stevens-Johnson/toxic epidermal necrolysis overlap syndrome · SJS/TEN overlap syndrome

ORPHA:506784

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

ORPHA:1112

Dubin-Johnson syndrome

Dubin-Sprinz disease · Hyperbilirubinemia type 2

ORPHA:234

Johnson neuroectodermal syndrome

Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome

ORPHA:2316

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

ORPHA:2439

Stevens-Johnson syndrome

Dermatostomatitis, Stevens Johnson type

ORPHA:36426

Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

SJS-TEN · Epidermal necrolysis

ORPHA:95455

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome

ORPHA:85320