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"

16 matching diseasesClear search ×

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

ORPHA:171876

Adult-onset myasthenia gravis

Adult-onset acquired myasthenia · Adult-onset autoimmune myasthenia gravis

ORPHA:391490

Autosomal dominant generalized dystrophic epidermolysis bullosa

Generalized DDEB

ORPHA:231568

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis · Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type

ORPHA:79408

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

ORPHA:141209

Generalized galactose epimerase deficiency

Generalized GALE deficiency · Generalized GALE-D

ORPHA:308487

Generalized isolated dystonia

ORPHA:376724

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

ORPHA:263543

Generalized pustular psoriasis

GPP

ORPHA:247353

Hydrops fetalis

Fetal anasarca · Fetal hydrops

ORPHA:1041

Intermediate generalized junctional epidermolysis bullosa

Generalized junctional epidermolysis bullosa, non-Herlitz type · Intermediate generalized JEB

ORPHA:79402

Juvenile myasthenia gravis

Childhood myasthenia gravis · Generalized myasthenia gravis

ORPHA:391497

Myasthenia gravis

Acquired myasthenia · Autoimmune myasthenia gravis

ORPHA:589

Rippling muscle disease with myasthenia gravis

Acquired rippling muscle disease · Generalized myasthenia gravis

ORPHA:206575

Severe generalized junctional epidermolysis bullosa

Epidermolysis bullosa letalis · JEB-H

ORPHA:79404

Transient neonatal myasthenia gravis

Generalized myasthenia gravis · MG

ORPHA:391504