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"

79 matching diseasesClear search ×

Interstitial granulomatous dermatitis with arthritis

Ackerman dermatitis syndrome · IGDA

ORPHA:79099

Isolated anogenital granulomatosis

AGG

ORPHA:692256

Juvenile myasthenia gravis

Childhood myasthenia gravis · Generalized myasthenia gravis

ORPHA:391497

Juvenile xanthogranuloma

JXG

ORPHA:158000

Large granular lymphocyte leukemia

ORPHA:512034

Low-grade astrocytoma

ORPHA:251592

Low-grade neuroendocrine tumor of the corpus uteri

Low-grade neuroendocrine tumor of the uterine corpus · Well-differentiated neuroendocrine tumor of the corpus uteri

ORPHA:213736

Lymphomatoid granulomatosis

LYG

ORPHA:86869

Myasthenia gravis

Acquired myasthenia · Autoimmune myasthenia gravis

ORPHA:589

Necrobiotic xanthogranuloma

ORPHA:158011

Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome

ORPHA:2687

Non-syndromic cerebral malformation due to abnormal neuronal migration

Brain malformation due to abnormal neuronal migration

ORPHA:163209

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

ORPHA:97342

OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome

ORPHA:1139

OBSOLETE: Eosinophilic granuloma

OBSOLETE: Chronic and localized Langerhans cell histiocytosis

ORPHA:99871

OBSOLETE: Glaucoma associated with neural crest cell migration anomaly

ORPHA:98632

OBSOLETE: Graft rejection after lung transplantation

ORPHA:91128

OBSOLETE: Granulomatous myositis

ORPHA:206979

OBSOLETE: Low-grade ependymoma

ORPHA:251633

Pediatric-onset Graves disease

Pediatric-onset Basedow disease

ORPHA:525731

Pellagra

ORPHA:97352

Pellagra-like skin rash-neurological manifestations syndrome

ORPHA:2837

Pituitary hormone deficiency secondary to a granulomatous disease

ORPHA:95617

Potassium-aggravated myotonia

K+-aggravated myotonia · K-aggravated myotonia

ORPHA:612

Recurrent infections due to specific granule deficiency

Neutrophil-specific granule deficiency

ORPHA:169142

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

ORPHA:313800

Rippling muscle disease with myasthenia gravis

Acquired rippling muscle disease · Generalized myasthenia gravis

ORPHA:206575

Secondary interstitial lung disease specific to childhood associated with a granulomatous disease

Secondary ILD specific to childhood associated with a granulomatous disease

ORPHA:264714

Sensorineural hearing loss-early graying-essential tremor syndrome

Sensorineural deafness-early graying-essential tremor syndrome

ORPHA:66633

T-cell large granular lymphocyte leukemia

Proliferation of large granular lymphocytes · T-LGL

ORPHA:86872

Transient neonatal myasthenia gravis

Generalized myasthenia gravis · MG

ORPHA:391504