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"

16 matching diseasesClear search ×

Reactive angioendotheliomatosis

RA · Cutaneous reactive dermatoses

ORPHA:673574

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ACEI-related acquired angioedema · Acquired angioedema with normal C1INH

ORPHA:100057

Myelodysplastic neoplasm with increased blasts

MDS · MDS with excess blasts

ORPHA:86839

Myelodysplastic neoplasm with increased blasts type 1

MDS · MDS-IB1

ORPHA:100019

Myelodysplastic neoplasm with increased blasts type 2

MDS · MDS-IB2

ORPHA:100020

Refractory anemia with excess blasts in transformation

RAEB-t

ORPHA:168960

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Johnson-Munson syndrome

ORPHA:1112

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

ORPHA:352662

Dwarfism-tall vertebrae syndrome

ORPHA:2661

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

ORPHA:2101

Hereditary benign intraepithelial dyskeratosis

HBID · Hereditary benign corneal intraepithelial dyskeratosis

ORPHA:352657

Hydrocephalus-blue sclerae-nephropathy syndrome

Daentl-Townsend-Siegel syndrome

ORPHA:2186

Hypothalamic adipsic hypernatraemia syndrome

ORPHA:443101

OBSOLETE: Lymphedema praecox

ORPHA:77241

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Faulk-Epstein-Jones syndrome

ORPHA:2064

Vulvar intraepithelial neoplasia

VIN · Vulvar intraepithelial tumor

ORPHA:137583