Rare Disease Library

Classic Hodgkin lymphoma, lymphocyte-depleted type

Classic Hodgkin lymphoma, lymphocyte-rich type

Classic Hodgkin lymphoma, mixed cellularity type

Classic Hodgkin lymphoma, nodular sclerosis type

Classic lissencephaly

Lissencephaly type 1

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Classic medulloblastoma

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

Classic mycosis fungoides

Mycosis fungoides, Alibert-Bazin type

Classic neuroendocrine tumor of appendix

Classic appendix neuroendocrine tumor · Classic appendiceal neuroendocrine tumor

Classic organic aciduria

Classic pantothenate kinase-associated neurodegeneration

NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form

Classic phenylketonuria

Classic PKU · PKU

Classic pilocytic astrocytoma

Juvenile pilocytic astrocytoma

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Classic pyoderma gangrenosum

Ulcerative pyoderma gangrenosum

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Classical dermatomyositis

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

COASY protein-associated neurodegeneration

CoPAN · NBIA6

Complex vascular malformation with associated anomalies

Hemangiolymphangioma

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency

Delta-beta-thalassemia

Disease associated with non-acquired combined pituitary hormone deficiency

Enteropathy-associated T-cell lymphoma

EATL · ETTL

Epstein-Barr Virus-associated carcinoma

EBV-associated carcinoma

Epstein-Barr virus-associated gastric carcinoma

EBV-associated gastric carcinoma · EBVaGC

Epstein-Barr virus-associated malignant lymphoproliferative disorder

EBV-associated lymphoproliferative disorder

Epstein-Barr Virus-associated mesenchymal tumor

EBV-associated mesenchymal tumor

Erythropoietic uroporphyria associated with myeloid malignancy

F12-associated cold autoinflammatory syndrome

FACAS

Familial clubfoot with or without associated lower limb anomalies

Familial platelet disorder with associated myeloid malignancy

FPD/AML · FPS/AML

Familial sinus histiocytosis with massive lymphadenopathy

Familial Rosaï-Dorfman disease · Familial SHML

Fatty acid hydroxylase-associated neurodegeneration

FAHN

Fever-associated acute infantile liver failure syndrome

Fontan-associated liver disease

FALD

Fragile X-associated primary ovarian insufficiency

FXPOI · Fragile X-associated POI

Fragile X-associated tremor/ataxia syndrome

FXTAS syndrome

Genetic complex vascular malformation with associated anomalies

Genetic hemangiolymphangioma

Glassy cell carcinoma of the cervix uteri

Graham Little-Piccardi-Lassueur syndrome

Graham Little syndrome · Piccardi-Lassueur-Little syndrome

Hematological disease associated with an acquired peripheral neuropathy

Hemoglobin C-beta-thalassemia syndrome

C-beta-thalassemia · HbC-beta-thalassemia syndrome

Hemoglobin E-beta-thalassemia syndrome

E-beta-thalassemia · HbE-beta-thalassemia syndrome