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"

157 matching diseasesClear search ×

Upper tract urothelial carcinoma

UTUC · Transitional cell carcinoma of the upper urinary tract

ORPHA:598216

Vaginal carcinoma

Vaginal malignant epithelial tumor

ORPHA:180247

Vulvar adenocarcinoma

Adenocarcinoma of the vulva

ORPHA:494454

Vulvar basal cell carcinoma

Basal cell carcinoma of vulva

ORPHA:494451

Vulvar carcinoma

Carcinoma of vulva

ORPHA:494418

Vulvar squamous cell carcinoma

Squamous cell carcinoma of the vulva

ORPHA:494448

Well-differentiated fetal adenocarcinoma of the lung

WDFA

ORPHA:284395

Well-differentiated thymic neuroendocrine carcinoma

ORPHA:263331

Autosomal recessive ataxia due to ubiquinone deficiency

ARCA2 · Autosomal recessive ataxia due to coenzyme Q10 deficiency

ORPHA:139485

Autosomal recessive ataxia, Beauce type

SCAR8 · ARCA1

ORPHA:88644

Autosomal recessive cerebellar ataxia

ARCA

ORPHA:1172

Autosomal recessive cutis laxa type 1

ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement

ORPHA:90349

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2

ORPHA:90350