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"

29 matching diseasesClear search ×

Breast implant-associated anaplastic large cell lymphoma

Breast implant-associated ALCL · Seroma-associated ALCL

ORPHA:667662

BRESEK syndrome

BRESHECK syndrome

ORPHA:85284

Self-limited epilepsy with centrotemporal spikes

BRE · Benign epilepsy of childhood with centrotemporal spikes

ORPHA:1945

Deficient breast volume or number

ORPHA:180173

Excess breast volume or number

ORPHA:180170

Familial juvenile hypertrophy of the breast

Familial juvenile gigantomastia · Virginal breast hypertrophy

ORPHA:180176

Giant adenofibroma of the breast

ORPHA:180267

Hereditary breast and/or ovarian cancer syndrome

ORPHA:145

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

Isolated congenital breast hypoplasia/aplasia

Isolated congenital amastia

ORPHA:180188

Metaplastic carcinoma of the breast

ORPHA:213531

Mulibrey nanism

Muscle-liver-brain-eye nanism · MUL

ORPHA:2576

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

ORPHA:647

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

ORPHA:240760

OBSOLETE: Multiple fibroadenoma of the breast

OBSOLETE: Mammary polyadenomatosis

ORPHA:50920

OBSOLETE: Pigeon-breeder lung disease

OBSOLETE: Bird fancier lung

ORPHA:99908

OBSOLETE: Renier-Gabreels-Jasper syndrome

ORPHA:93975

Phyllodes tumor of the breast

ORPHA:180261

Rare adenocarcinoma of the breast

ORPHA:213528

Rare benign breast tumor

ORPHA:180253

Rare breast malformation

ORPHA:180163

Rare breast tumor

ORPHA:180250

Rare malignant breast tumor

Rare breast cancer

ORPHA:180257

Rare non-malformative breast disease

ORPHA:180202

Salivary gland type cancer of the breast

Salivary gland type carcinoma of the breast

ORPHA:213557

Siegler-Brewer-Carey syndrome

ORPHA:3167

Supernumerary breasts

Accessory breasts · Polymastia

ORPHA:180182

Syndromic breast hypoplasia/aplasia

ORPHA:180193

Warsaw breakage syndrome

WABS

ORPHA:280558