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"

60 matching diseasesClear search ×

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

ORPHA:466926

Semicircular canal dehiscence syndrome

SCD syndrome

ORPHA:420402

SERKAL syndrome

Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

ORPHA:139466

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

ORPHA:2853

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

ORPHA:369992

SIBIDS syndrome

Trichothiodystrophy-osteosclerosis syndrome

ORPHA:75789

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

ORPHA:3380

W syndrome

Pallister-W syndrome

ORPHA:2804

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469