Rare Disease Library

Combined pancreatic lipase-colipase deficiency

Congenital pancreatic cyst

Neonatal congenital pancreatic cyst · True congenital pancreatic cyst

Congenital panfollicular nevus

Cytophagic histiocytic panniculitis

CHP · Winkelmann cytophagic panniculitis

Diffuse panbronchiolitis

Early-onset idiopathic chronic pancreatitis

Familial expansile osteolysis

Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease

Familial pancreatic carcinoma

Familial pancreatic cancer

Follicular cholangitis and pancreatitis

Follicular pancreatocholangitis

Functioning neuroendocrine tumor of pancreas

Functioning pancreatic neuroendocrine tumor · Functioning well-differentiated neuroendocrine neoplasm of pancreas

Gastroenteropancreatic neuroendocrine neoplasm

GEP-NEN

Genetic pancreatic disease

Genetic visceral malformation of the liver, biliary tract, pancreas or spleen

Huntington disease-like syndrome due to C9ORF72 expansions

C9ORF72-related Huntington disease phenocopy · C9ORF72-related Huntington disease-like syndrome

Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

Idiopathic chronic pancreatitis

Idiopathic panuveitis

Infantile multisystem neurologic-endocrine-pancreatic disease

IMNEPD

Infantile onset panniculitis with uveitis and systemic granulomatosis

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN deficiency

Infectious panuveitis

Japanese encephalitis

Late-onset idiopathic chronic pancreatitis

Lupus erythematosus panniculitis

Lupus erythematosus profundus

MEPAN syndrome

Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome · Autosomal recessive childhood-onset dystonia, DYT29 type

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

Non-acquired panhypopituitarism

Genetic panhypopituitarism

Non-functioning neuroendocrine tumor of pancreas

Non-functioning pancreatic neuroendocrine tumor · Non-functioning well-differentiated neuroendocrine neoplasm of pancreas

Non-insulinoma pancreatogenous hypoglycemia syndrome

NIPHS

Non-syndromic pansynostosis

Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures

Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine

OBSOLETE: Diabetes associated to exocrine pancreas neoplasia

OBSOLETE: Fibrocalculous pancreatopathy

OBSOLETE: FCPD · OBSOLETE: Tropical pancreatic diabetes

OBSOLETE: Melanoma-pancreatic cancer syndrome

OBSOLETE: Pancreatic beta cell agenesis with neonatal diabetes mellitus

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

Rare carcinoma of pancreas

Rare pancreatic carcinoma

Rare epithelial tumor of pancreas

Rare pancreatic epithelial tumor

Rare pancreatic disease

Rare tumor of pancreas

Rare pancreatic tumor

Renal-hepatic-pancreatic dysplasia

Ivemark II syndrome · Renohepaticopancreatic dysplasia

Rubella panencephalitis

Serotonin-producing neuroendocrine tumor of pancreas

Serotonin-producing PNET · Serotonin-producing pancreatic NET

Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome

Subcutaneous panniculitis-like T-cell lymphoma

SPTCL · Subcutaneous panniculitic T-cell lymphoma

Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen

Systemic diseases with panuveitis