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"

69 matching diseasesClear search ×

Gangliocytoma

ORPHA:251937

Ganglioglioma

ORPHA:251949

Ganglioneuroblastoma

ORPHA:251877

Ganglioneuroma

ORPHA:251992

Gangliosidosis

ORPHA:309144

Giant axonal neuropathy

GAN

ORPHA:643

Acquired sensory ganglionopathy

Acquired sensory neuronopathy

ORPHA:208984

Adrenal/paraganglial tumor

ORPHA:100091

Anaplastic ganglioglioma

ORPHA:251957

Biotin-thiamine-responsive basal ganglia disease

BBGD · BTBGD

ORPHA:65284

Bullous pyoderma gangrenosum

Phemphigoid pyoderma gangrenosum

ORPHA:538869

Cerebral gigantism-jaw cysts syndrome

Cramer-Niederdellmann syndrome

ORPHA:2081

Cerebral organic aciduria

ORPHA:79158

Childhood-onset basal ganglia degeneration syndrome

Lenk-Ploski syndrome

ORPHA:497906

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

ORPHA:309854

Classic organic aciduria

ORPHA:79163

Classic pyoderma gangrenosum

Ulcerative pyoderma gangrenosum

ORPHA:538863

Cogan syndrome

ORPHA:1467

Cogan-Reese syndrome

ORPHA:98980

Complication after organ transplantation

ORPHA:306644

Cryptogenic organizing pneumonia

COP · Bronchiolitis obliterans organizing pneumonia

ORPHA:1302

Desmoplastic infantile astrocytoma/ganglioglioma

DIA/DIG

ORPHA:251940

Disorder of amino acid and other organic acid metabolism

ORPHA:79062

Disorder of lysosomal-related organelles

ORPHA:309340

Disorder of manganese transport

ORPHA:309851

Dystonia-parkinsonism-hypermanganesemia syndrome

ORPHA:521406

Familial partial lipodystrophy, Dunnigan type

Dunnigan syndrome · FPLD2

ORPHA:2348

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

ORPHA:354

GM1 gangliosidosis type 1

Infantile GM1 gangliosidosis · Norman-Landing disease

ORPHA:79255

GM1 gangliosidosis type 2

Juvenile GM1 gangliosidosis · Late-infantile GM1 gangliosidosis

ORPHA:79256

GM1 gangliosidosis type 3

Adult-onset GM1 gangliosidosis

ORPHA:79257

GM2 gangliosidosis

ORPHA:309152

GM2 gangliosidosis, AB variant

Hexosaminidase activator deficiency

ORPHA:309246

Gollop-Wolfgang complex

Bifid femur-monodactylous ectrodactyly syndrome

ORPHA:1986

Hereditary pheochromocytoma-paraganglioma

Familial pheochromocytoma-paraganglioma

ORPHA:29072

Hirschsprung disease-ganglioneuroblastoma syndrome

ORPHA:2151

Holmes-Gang syndrome

ORPHA:93970

Hypomyelination with atrophy of basal ganglia and cerebellum

H-ABC

ORPHA:139441

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

ORPHA:263410

Manganese poisoning

Manganese intoxication · Manganism

ORPHA:306682

Multiple paragangliomas associated with polycythemia

Multiple paragangliomas associated with erythrocytosis · Paraganglioma-somatostatinoma-polycythemia syndrome

ORPHA:324299

Nasal ganglioglioma

ORPHA:141115

Non-functioning paraganglioma

Non-secreting paraganglioma

ORPHA:94080

Non-paraneoplastic sensory ganglionopathy

Non-paraneoplastic sensory neuronopathy

ORPHA:208989

OBSOLETE: Embryonary disorganization syndrome

ORPHA:1664

OBSOLETE: Lown-Ganong-Levine syndrome

OBSOLETE: LGL syndrome · OBSOLETE: Atrial tachyarrhythmia with short PR interval

ORPHA:844

OBSOLETE: Other ganglionopathy related to autoimmune diseases

OBSOLETE: Other neuronopathy related to autoimmune diseases

ORPHA:208994

OBSOLETE: Sporadic secreting paraganglioma

ORPHA:276627