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"

20 matching diseasesClear search ×

NMDA receptor encephalitis

Limbic encephalitis with NMDA receptor antibodies · Limbic encephalitis with N-methyl-D-aspartate receptor antibodies

ORPHA:217253

Nemaline myopathy

NEM · NM

ORPHA:607

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

ORPHA:71211

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

ORPHA:592850

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

ORPHA:592856

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

ORPHA:592869

Nodal marginal zone B-cell lymphoma

NMZL

ORPHA:86867

NUT midline carcinoma

NMC

ORPHA:443167

Transient neonatal myasthenia gravis

Generalized myasthenia gravis · MG

ORPHA:391504

Acute panmyelosis with myelofibrosis

Acute myelodysplasia with myelofibrosis · Acute myelofibrosis

ORPHA:86843

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

ORPHA:330050

DNMT3A-related microcephalic dwarfism

HESJAS · Heyn-Sproul-Jackson syndrome

ORPHA:658595

Eisenmenger syndrome

ORPHA:97214

Familial nonmedullary thyroid carcinoma

ORPHA:319494

Hinman syndrome

HAS · HS

ORPHA:84085

Rare genetic neuromuscular disorder with ocular motility/alignment anomaly

ORPHA:522522

Rare genetic ocular motility/alignment disorder

ORPHA:522516

Rare neuromuscular disorder with ocular motility/alignment anomaly

ORPHA:519347

Rare ocular motility/alignment disorder

ORPHA:519355

Autosomal recessive axonal neuropathy with neuromyotonia

ARAN-NM · ARCMT2-NM

ORPHA:324442