projects
SYNONIMS: MSA, cerebellar type, MSA-c, Sporadic OPCA type 1, Sporadic olivopontocerebellar atrophy type 1
ICD10 code: G90.3
ORPHANET number: ORPHA227510
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
SYNONIMS: Marchiafava-Micheli disease
PNH
ICD10 code: D59.5
ORPHANET number: ORPHA447
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
SYNONIMS: Arylsulfatase A deficiency
ICD10 code: E75.2
ORPHANET number: ORPHA512
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
SYNONIMS: Huntington chorea
ICD10 code: G10
ORPHANET number: ORPHA399
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
SYNONIMS: CFC syndrome
ICD10 code: Q87.8
ORPHANET number: ORPHA1340
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website
SYNONIMS: HOMG3, Hypomagnesemia renal type 3
ICD10 code: Е83.4
ORPHANET number: ORPHA31043
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website
SYNONIMS: AD-HIES, Autosomal dominant HIES, Autosomal dominant hyperimmunoglobulin E syndrome, Buckley syndrome, Hyperimmunoglobulin E syndrome type 1, Hyperimmunoglobulin E-recurrent infection syndrome
ICD10 code: D82.4
ORPHANET number: ORPHA2314
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website
SYNONIMS: DYT1, Dystonia musculorum deformans, EOTD, Early-onset generalized torsion dystonia, Early-onset primary dystonia, Idiopathic dystonia, Idiopathic torsion dystonia, Oppenheim’s dystonia
ICD10 code: G24.1
ORPHANET number: ORPHA256
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website
SYNONIMS: Cystathionine beta-synthase deficiency, Homocystinuria due to cystathionine beta-synthase deficiency
ICD10 code: E72.1
ORPHANET number:
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website