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"

9 matching diseasesClear search ×

Neuroectodermal-endocrine syndrome

Oerter-Friedman-Anderson syndrome

ORPHA:2676

Andersen-Tawil syndrome

Andersen syndrome · LQT7

ORPHA:37553

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

ORPHA:1496

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

ORPHA:1969

Fried syndrome

ORPHA:85335

Fried's tooth and nail syndrome

ORPHA:99672

Growth delay-hydrocephaly-lung hypoplasia syndrome

Game-Friedman-Paradice syndrome

ORPHA:3035

Partington-Anderson syndrome

ORPHA:2829

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

ORPHA:2976