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 ×

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Stratton-Garcia-Young syndrome

ORPHA:1277

Peripheral motor neuropathy-dysautonomia syndrome

Lisker-Garcia-Ramos syndrome

ORPHA:2400

Short stature-wormian bones-dextrocardia syndrome

Stratton-Parker syndrome

ORPHA:2863

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

Young-Hughes syndrome

ORPHA:3055

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469

Young syndrome

Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome

ORPHA:3471