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 ×

Familial papillary or follicular thyroid carcinoma

FNMTC · Familial pure nonmedullary thyroid carcinoma

ORPHA:319487

Familial papillary thyroid carcinoma with renal papillary neoplasia

PTC-RCC

ORPHA:97290

Fibrolamellar hepatocellular carcinoma

FHCC · Fibrolamellar hepatocarcinoma

ORPHA:401920

Gastric adenocarcinoma and proximal polyposis of the stomach

Familial fundic gland polyposis with gastric cancer · GAPPS

ORPHA:314022

Gestational choriocarcinoma

ORPHA:99926

Glassy cell carcinoma of the cervix uteri

ORPHA:213833

Goblet cell carcinoma

GCC · Goblet cell adenocarcinoid

ORPHA:329984

Hepatocellular carcinoma

HCC · Hepatocellular carcinoma

ORPHA:88673

Hereditary clear cell renal cell carcinoma

Hereditary clear cell renal cell adenocarcinoma · Kidney cancer

ORPHA:422526

Hereditary papillary renal cell carcinoma

HPRC · Kidney cancer

ORPHA:47044

High-grade neuroendocrine carcinoma of the cervix uteri

Poorly differentiated neuroendocrine carcinoma of the cervix uteri · Poorly differentiated neuroendocrine cervical carcinoma

ORPHA:213777

High-grade neuroendocrine carcinoma of the corpus uteri

Poorly differentiated neuroendocrine carcinoma of the corpus uteri · Poorly differentiated neuroendocrine carcinoma of the endometrium

ORPHA:213731

Intraductal papillary mucinous carcinoma of pancreas

Pancreatic intraductal papillary mucinous carcinoma · IPMN

ORPHA:424058

Intraoral basal cell carcinoma

IOBCC intramucosal basal cell carcinoma · Basal cell carcinoma of the buccal mucosa

ORPHA:667678

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

ORPHA:99361

Lymphoepithelial-like carcinoma

ORPHA:289682

Medullary thyroid carcinoma

MTC

ORPHA:1332

Metaplastic carcinoma of the breast

ORPHA:213531

MiT family translocation renal cell carcinoma

Carcinoma associated with MITF/TFE translocation · Kidney cancer

ORPHA:319308

MITF-related melanoma and renal cell carcinoma predisposition syndrome

Kidney cancer · RCC

ORPHA:293822

Moderately-differentiated thymic neuroendocrine carcinoma

ORPHA:263335

Mucinous adenocarcinoma of ovary

Ovarian mucinous adenocarcinoma

ORPHA:398961

Mucinous adenocarcinoma of the appendix

Appendiceal mucinous adenocarcinoma

ORPHA:391723

Mucinous cystadenocarcinoma of the pancreas

Pancreatic mucinous cystadenocarcinoma

ORPHA:424053

Mucinous tubular and spindle cell renal carcinoma

ORPHA:319322

Nasopharyngeal carcinoma

NCP · Squamous cell carcinoma of the nasopharynx

ORPHA:150

Neuroendocrine carcinoma of pancreas

Pancreatic NEC · Pancreatic neuroendocrine carcinoma

ORPHA:506098

Non-central nervous system-localized embryonal carcinoma

Non-CNS-localized embryonal carcinoma

ORPHA:289362

NUT midline carcinoma

NMC

ORPHA:443167

OBSOLETE: Adenoid cystic carcinoma of the corpus uteri

OBSOLETE: Endometrial adenoid cystic carcinoma

ORPHA:213741

OBSOLETE: Carcinoma of stomach, salivary gland type

OBSOLETE: Gastric carcinoma, salivary gland type

ORPHA:423781

OBSOLETE: Familial renal cell carcinoma

ORPHA:151

OBSOLETE: Follicular atrophoderma-basal cell carcinoma

ORPHA:79459

OBSOLETE: HIV-related hepatocellular carcinoma

ORPHA:443310

OBSOLETE: Papillary carcinoma of the cervix uteri

OBSOLETE: Cervical papillary carcinoma

ORPHA:213817

OBSOLETE: Primary peritoneal serous/papillary carcinoma

OBSOLETE: PPSPC

ORPHA:398980

OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri

ORPHA:213574

OBSOLETE: Renal cell carcinoma associated with neuroblastoma

OBSOLETE: Renal cell carcinoma after neuroblastoma

ORPHA:319314

OBSOLETE: Squamous cell carcinoma of salivary glands

ORPHA:500481

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

ORPHA:2198

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome

ORPHA:85112

Papillary renal cell carcinoma

Kidney cancer · Papillary renal cell adenocarcinoma

ORPHA:319298

Paratesticular adenocarcinoma

Adenocarcinoma of the paratestis

ORPHA:363478

Parathyroid carcinoma

ORPHA:143

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

ORPHA:33402

Perihilar cholangiocarcinoma

Hilar cholangiocarcinoma · Klatskin tumor

ORPHA:99978

Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome

ORPHA:447961

Pilomatrix carcinoma

Calcified epithelial carcinoma of Malherbe · Calcifying epitheliocarcinoma

ORPHA:499182