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Rare diseases



The rare disease database of the Swedish National Board of Health and Welfare contains detailed information on over 300 rare diseases. The information is produced in collaboration with leading medical specialists and patient associations. New disease descriptions are added continuously and the texts are updated on a regular basis.
Read more about the database and rare diseases here.

The database should not be regarded as fully comprehensive. If you cannot find the diagnosis you are looking for on our site, Orphanet, an international reference portal on rare diseases, may provide the information you are seeking.


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Diagnosis Synonyms
Zuelzer-Krills syndrome  
X-linked recessive hypoparathyroidism  
X-linked agammaglobulinemia Bruton disease/agammaglobulinemia, Sex-linked gammaglobulin deficiency, Sex-linked agammaglobulinemia
XL-EDMD  
Worster-Drought syndrome  
Wiskott-Aldrich syndrome --
Wilson disease Hepatolenticular degeneration
Wilms tumour, aniridia, genital abnormalities and retardation  
Williams-Beuren syndrome  
Williams syndrome Williams-Beuren syndrome
WHIM syndrome Warts, Hypogammaglobulinemia, Infections and Myelokathexis; Zuelzer-Krills syndrome
Weyers acrofacial dysostosis  
Velocardiofacial syndrome  
VCFS  
VATER association  
Warts, Hypogammaglobulinemia, Infections and Myelokathexis  
WAGR syndrome Wilms tumour, aniridia, genital abnormalities and retardation; WAGR
VACTERL association VATER association
Usher syndrome --
Tyrosinemia type 1 Hepatorenal tyrosinemia, HT1, Fumarylacetoacetase deficiency, FAH deficiency
Tuberous sclerosis complex  
Tuberous sclerosis Tuberous sclerosis complex, TSC, Bourneville disease
TSC  
TRPS  
Trisomy 18 syndrome Edwards syndrome
Trichorhinophalangeal syndrome TRPS, Langer-Giedion syndrome
Treacher Collins syndrome Mandibulofacial dysostosis, Franceschetti-Klein syndrome
Thomsen disease  
Thalassemia --
Tetrasomy 18p  
Tetrasomy 12p syndrome  
Testicular feminisation syndrome  
Tay-Sachs disease  
Tarui disease Glycogenosis type VII, Phosphofructokinase deficiency
TAR syndrome --
Takayasu arteritis --
SWS  
Surdo-cardiac syndrome  
Succinic semialdehyde dehydrogenase deficiency SSADH deficiency
Sturge-Weber-Dimitri syndrome  
Sturge-Weber syndrome SWS, Sturge-Weber-Dimitri syndrome, Encephalotrigeminal angiomatosis
Steinert disease  
SSADH deficiency  
Spondyloepiphyseal dysplasia tarda  
Spondyloepiphyseal dysplasia congenita  
Spinocerebellar ataxia, dominantly inherited forms SCA, SCA1, SCA2, SCA3/Machado-Joseph disease, Machado-Joseph disease/SCA3, SCA6, SCA7, SCA8
Spinal bulbar muscular atrophy, X-linked  
Sotos syndrome Cerebral gigantism
Smith-Lemli-Opitz syndrome SLOS, SLO syndrome
SLOS  
SLO syndrome  
Silver-Russell syndrome Russell-Silver syndrome
Sickle cell anaemia --
Shwachman syndrome Shwachman-Diamond syndrome, SDS
Shwachman Diamond syndrome  
Sex-linked gammaglobulin deficiency  
Sex-linked agammaglobulinemia  
Severe congenital neutropenia SCN, Kostmann disease
Severe combined immunodeficiency SCID
Septo-optic dysplasia  
SDS  
SCN  
SCID  
SCA8  
SCA7  
SCA6  
SCA3/Machado-Joseph disease  
SCA2  
SCA1  
SCA  
SBMA  
Sanfilippo syndrome Mucopolysaccharidosis type III, MPS III
Sandhoff disease  
Saethre-Chotzen syndrome Acrocephalosyndaktyly type III
Russell-Silver syndrome  
Rubinstein-Taybi syndrome --
Rieger anomaly  
Rett syndrome --
Retinoblastoma --
Refsum disease Heredopathia atactica polyneuritiformis
PXE  
PWS  
Pseudoxanthoma elasticum PXE
Pseudobulbar palsy  
Pseudoachondroplasia --
Prune belly syndrome Eagle-Barrett syndrome
Proximal myotonic myopathy,  
PROMM  
Progressive spinal muscular atrophy  
Progressive cerebral arterial occlusive disease  
Progressive bulbar palsy  
Primary renal tubular hypokalemic alkalosis  
Primary microcephaly (autosomal recessive)  
Primary microcephaly Primary microcephaly (autosomal recessive), Microcephaly vera, MCPH
Primary lateral sclerosis  
Primary adrenal insufficiency  
Prader-Willi syndrome PWS
Potocki-Lupski syndrome Duplication 17p11.2 syndrome
Porphyria, erythropoietic protoporphyria  
Porphyria, acute intermittent porphyria  
Pompe disease Glycogen storage disease type II, Glycogenosis type II, Acid maltase deficiency
Polyneuropathy associated with an M component MGUS polyneuropathy
Polymyositis --
Polyarteritis nodosa PAN
PNH  
PMD  
PKU  
Phosphofructokinase deficiency  
Phenylketonuria PKU
Pfeiffer syndrome --
Perisylvian syndrome Congenital bilateral perisylvian syndrome, Opercular syndrome, Foix-Chavany-Marie syndrome, Worster-Drought syndrome
Pelletier-Leisti syndrome  
Pelizaeus-Merzbacher disease PMD
PC  
Partial monosomy 1p36 syndrome  
Paroxysmal nocturnal haemoglobinuria PNH
Paramyotonia congenita  
Papillon-Léage-Psaume syndrome (OFD I)  
PAN  
Pallister-Killian syndrome Isochromosome 12p syndrome, Tetrasomy 12p syndrome
Pachyonychia congenita PC
Osteopetrosis Albers-Schönberg disease, Marble bone disease
Osteogenesis imperfecta OI, Congenital brittle bone disease
Orol-facial-digital syndromes I and II  
Orofaciodigital syndromes I and II Orol-facial-digital syndromes I and II, OFD I and II, Papillon-Léage-Psaume syndrome (OFD I), Mohr syndrome (OFD II)
Optic nerve hypoplasia ONH, ONH syndrome, Septo-optic dysplasia
Opercular syndrome  
ONH syndrome  
ONH  
OI  
OFD I and II  
Oculo-auriculo-vertebral spectrum  
OAVS  
Noonan syndrome with muliple lentigines  
Noonan syndrome --
NMO  
Niikawa-Kuroki syndrome  
Neuromyotonia  
Neuromyelitis optica NMO, Devic disease
Netherton syndrome Comel-Netherton syndrome
Nemaline myopathy --
Möbius syndrome Moebius syndrome, Möbius sequence
Möbius sequence  
Myotubular myopathy  
Myotonic dystrophy Steinert disease, Dystrophia myotonica type 1, Congenital dystrophia myotonica, Dystrophia myotonica type 2, Proximal myotonic myopathy, PROMM
Myotonia congenita Congenital myotonia, Thomsen disease, Becker myotonia
Myophosphorylase deficiency  
Muscoviscidosis  
Multiple epiphyseal dysplasia MED
Multifocal motor neuropathy MMN
Mucopolysaccharidosis type III  
Mucopolysaccharidosis type II  
Mucopolysaccharidosis type I (IH, IH/S, IS)  
MSUD  
MPS III  
MPS II  
MPS I (IH, IH/S, IS)  
Moyamoya Progressive cerebral arterial occlusive disease
Mowat-Wilson syndrome --
Motor neurone disease  
Morbus Gaucher  
Monosomy 13q syndrome  
Mohr syndrome (OFD II)  
Moebius syndrome  
MMN  
Microcephaly vera  
MGUS polyneuropathy  
Meretoja syndrome  
MED  
MCPH  
McCune-Albright syndrome --
McArdle disease Glycogenosis type V, Myophosphorylase deficiency
Marker chromosome 15 syndrome Idic (15) syndrome, Isodicentric 15 syndrome
Marfan syndrome --
Marble bone disease  
Maple syrup urine disease MSUD
Mandibulofacial dysostosis  
Malignant hyperthermia --
Machado-Joseph disease/SCA3  
Lysosomal-associated membrane protein 2  
Lysinuric protein intolerance LPI
LQTS  
LPI  
Louis-Bar syndrome  
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency  
Long QT syndrome  
LMBBS  
Limb-girdle muscular dystrophy LGMD
LGMD  
Lesch-Nyhan syndrome --
LEOPARD syndrome Noonan syndrome with muliple lentigines, Cardiocutaneous syndrome
Leber congenital amaurosis LCA, Early-onset retinitis pigmentosa
LCHAD deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LCA  
Laurence-Moon-Bardet-Biedl syndrome  
Late-onset spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia tarda
Langer-Giedion syndrome  
LAMP2  
Lamellar ichthyosis  
Krabbe disease Globoid cell leukodystrophy, GLD
Kostmann disease  
Klippel-Trenaunay syndrome --
Keratosis follicularis  
Kennedy disease Spinal bulbar muscular atrophy, X-linked; SBMA
Kabuki syndrome Kabuki makeup syndrome, Niikawa-Kuroki syndrome
Kabuki makeup syndrome  
Juvenile Huntington disease  
Job disease  
JLNS  
Jervell and Lange-Nielsen syndrome JLNS, Surdo-cardiac syndrome, Long QT syndrome, LQTS
Jacobsen syndrome  
Isodicentric 15 syndrome  
Isochromosome 18p syndrome Tetrasomy 18p
Isochromosome 12p syndrome  
Isaacs syndrome --
IPEX-like syndrome  
IPEX syndrome Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked; IPEX-like syndrom
Inherited ferrochelatase deficiency  
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked  
Iduronate sulfatase deficiency  
Idic (15) syndrome  
Ichthyosis, congenital Lamellar ichthyosis, Epidermolytic (bullous) ichthyosis
Hypoparathyroidism Familial isolated hypoparathyroidism, X-linked recessive hypoparathyroidism, Familial hypocalcaemia with hypercalciuria
Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia, Ectodermal dysplasia, Christ-Siemens-Touraine syndrome
Hypogammaglobulinaemia  
Hyperprostaglandin E syndrome  
HyperPP  
Hyperkalemic periodic paralysis and Paramyotonia congenita HyperPP, Eulenburg disease
Hyperimmunoglobulin E syndrome  
Hyper IgE syndrome Job disease, Hyperimmunoglobulin E syndrome, HIES, DOCK8 deficiency
Hurler, Hurler-Scheie and Scheie syndromes Mucopolysaccharidosis type I (IH, IH/S, IS); MPS I (IH, IH/S, IS), Alfa-L-iduronidase deficiency
Huntington disease Huntington chorea, Juvenile Huntington disease
Huntington chorea  
Hunter syndrome Mucopolysaccharidosis type II, MPS II, Iduronate sulfatase deficiency
HT1  
HSAN V  
Hoyeraal-Hreidarssons syndrome  
Homocystinuria --
HNPP  
HIES  
Hexosaminidase B deficiency  
Hexosaminidase A deficiency  
Heredopathia atactica polyneuritiformis  
Hereditary sensory and autonomic neuropathy type V HSAN V, Congenital insensitivity to pain
Hereditary neuropathy with liability to pressure palsies HNPP, Hereditary neuropathy with compression neuropathies
Hereditary neuropathy with compression neuropathies  
Hereditary angioedema HAE
Hereditary amyloidosis, Finnish type  
Hepatorenal tyrosinemia  
Hepatolenticular degeneration  
Hemifacial microsomia  
HAE  
Goodpasture disease --
Goldenhar syndrome Oculo-auriculo-vertebral spectrum, OAVS, Hemifacial microsomia
GM2 gangliosidoses Hexosaminidase A deficiency, Tay-Sachs disease, Hexosaminidase B deficiency, Sandhoff disease, Activator protein deficiency, AB variant
Glycogenosis type VII  
Glycogenosis type V  
Glycogenosis type II  
Glutaryl-coenzyme A dehydrogenase deficiency  
Glutaric aciduria type 1 Glutaric acidaemia type 1, Glutaryl-coenzyme A dehydrogenase deficiency
Glutaric acidemia type 1  
GLUT1 deficiency syndrome  
Glucose transporter type 1 deficiency syndrome GLUT1 deficiency syndrome
Globoid cell leukodystrophy  
GLD  
Gitelman syndrome  
Gillespie syndrome --
Gelsolin amyloidosis Familial amyloid neuropathy type IV, Meretoja syndrome, Hereditary amyloidosis, Finnish type
Gaucher disease Morbus Gaucher
Galactosaemia --
Fumarylacetoacetase deficiency  
FSHD  
Friedreich ataxia FRDA
FRDA  
Franceschetti-Klein syndrome  
Foix-Chavany-Marie syndrome  
Floating Harbor syndrome Pelletier-Leisti syndrome
FCS syndrome  
Fanconi anaemia --
Familial isolated hypoparathyroidism  
Familial hypokalemia-hypomagnesemia  
Familial hypocalcaemia with hypercalciuria  
Familial amyloid neuropathy type IV  
FAH deficiency  
Facioscapulohumeral muscular dystrophy FSHD
Faciogenital syndrome  
Faciodigitogenital syndrome  
Faciocutaneoskeletal syndrome  
Fabry disease Anderson-Fabry disease, Alpha-galactosidase A deficiency, Angiokeratoma corporis diffusum
Eulenburg disease  
Erythropoietic protoporphyria Porphyria, erythropoietic protoporphyria, Inherited ferrochelatase deficiency
Epidermolytic (bullous) ichthyosis  
Epidermolysis bullosa EB
Encephalotrigeminal angiomatosis  
Emery-Dreifuss muscular dystrophy EDMD, XL-EDMD, EDMD2
Ellis-van Creveld syndrome and Weyers acrofacial dysostosis Chondroectodermal dysplasia
Edwards syndrome  
EDMD2  
EDMD  
Ectodermal dysplasia  
EB  
Early-onset retinitis pigmentosa  
Eagle-Barrett syndrome  
Dystrophia myotonica type 2  
Dystrophia myotonica type 1  
Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome
Duplication 17p11.2 syndrome  
Duchenne muscular dystrophy DMD
DOCK8 deficiency DOCK8 deficiency
DOCK8 deficiency  
DMD  
DiGeorge syndrome  
Diastrophic dysplasia  
Diamond Blackfan anaemia DBA, Blackfan Diamond anaemia, Congenital hypoplastic anaemia
Devic disease  
Dermatomyositis --
de Lange syndrome  
DBA  
Darier disease Keratosis follicularis
Danon disease Lysosomal-associated membrane protein 2, LAMP2
Cystinosis --
Cystic fibrosis of the pancreas  
Cystic fibrosis CF, Cystic fibrosis of the pancreas, Mucoviscidosis
CVID  
Crouzon syndrome --
Cri du chat syndrome 5p deletion syndrome
Creutzfeldt-Jakob disease CJD
Costello syndrome Faciocutaneoskeletal syndrome, FCS syndrome
Cornelia de Lange syndrome Brachmann-de Lange syndrome, de Lange syndrome
Congenital spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia congenita
Congenital myotonia  
Congenital myasthenia --
Congenital insensitivity to pain  
Congenital hypoplastic anaemia  
Congenital dystrophia myotonica  
Congenital central hypoventilation syndrome CCHS
Congenital brittle bone disease  
Congenital bilateral perisylvian syndrome  
Congenital aniridia Aniridia
Common variable immunodeficiency CVID, Hypogammaglobulinaemia
Comel-Netherton syndrome  
Coffin-Lowry syndrome --
Cockayne syndrome --
CJD  
CIDP Chronic inflammatory demyelinating polyneuropathy
Churg-Strauss syndrome --
Chronic inflammatory demyelinating polyneuropathy  
Chromosome 5, 5p deletion syndrome  
Chromosome 22, CATCH 22  
Chromosome 22, 22q11 deletion syndrome  
Chromosome 13, Monosomy 13q syndrome  
Chromosome 13, 13q deletion syndrome  
Chromosome 1, Monosomy 1p36  
Chromosome 1, 1p36 deletion syndrome  
Christ-Siemens-Touraine syndrome  
Chondroectodermal dysplasia  
CHARGE syndrome CHARGE association
CHARGE association  
CFC  
CF  
Cerebral gigantism  
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy  
Centronuclear myopathy Myotubular myopathy
Central core disease --
CCHS  
CATCH 22  
Cat eye syndrome --
Cardiofaciocutaneous syndrome CFC
Cardiocutaneous syndrome  
Canale-Smith syndrome  
CADASIL Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Börjeson-Forssman-Lehmann syndrome BFLS
BVMD  
Bruton disease/agammaglobulinemia  
Brachmann-de Lange syndrome  
Bourneville disease  
BMD  
Blepharospasm Benign essential blepharospasm
Bladder exstrophy --
Blackfan Diamond anaemia  
BFLS  
Best vitelliform macular dystrophy --
Benign essential blepharospasm  
Behçet disease --
Becker myotonia  
Becker muscular dystrophy BMD
BBS  
Bartter syndrome and Gitelman syndrome Primary renal tubular hypokalemic alkalosis, Hyperprostaglandin E syndrome, Familial hypokalemia-hypomagnesemia
Bartter syndrome  
Bardet-Biedl syndrome BBS, Laurence-Moon-Bardet-Biedl syndrome, LMBBS
Axenfeld-Rieger syndrome Axenfeld anomaly, Rieger anomaly
Axenfeld anomaly  
Autoimmune lymphoproliferative syndrome ALPS, Canale-Smith syndrome
Ataxia telangiectasia AT, Louis–Bar syndrome
AT  
Aspartylglucosaminuria AGU
ASL deficiency  
Arteriohepatic dysplasia  
Argininosuccinate lyase deficiency ASL deficiency
Apert syndrome Acrocephalosyndactyly type 1
Aniridia  
Anhidrotic ectodermal dysplasia  
Angioosteohypertrophy syndrome  
Angiokeratoma corporis diffusum  
Angelman syndrome --
Androgen resistance syndrome  
Androgen insensitivity syndrome AIS, Androgen resistance syndrome, Testicular feminisation syndrome
Anderson-Fabry disease  
Amyotrophic lateral sclerosis ALS, Progressive spinal muscular atrophy, Progressive bulbar palsy, Pseudobulbar palsy, Primary lateral sclerosis, Motor neurone disease
Alström-Hallgren syndrome  
Alström syndrome Alström-Hallgren syndrome
ALS  
ALPS  
Alport syndrome --
Alpha-galactosidase A deficiency  
Alfa-L-iduronidase deficiency  
Alexander disease --
Albers-Schönberg disease  
Alagille syndrome Arteriohepatic dysplasia
AIS  
AIP  
Aicardi syndrome --
AGU  
Addison's disease Primary adrenal insufficiency
Acute intermittent porphyria AIP
Activator protein deficiency  
Acrocephalosyndaktyly type III  
Acrocephalosyndactyly type 1  
Acid maltase deficiency  
Achondroplasia --
AB variant of GM2 gangliosidosis  
Aarskog syndrome Faciogenital syndrome, Faciodigitogenital syndrome
5p deletion syndrome  
22q11 deletion syndrome DiGeorge syndrome, Velocardiofacial syndrome, VCFS, CATCH 22
1p36 deletion syndrome Partial monosomy 1p36 syndrome
13q deletion syndrome Monosomy 13q syndrome
11q deletion syndrome Jacobsen syndrome

See also

Rare diseases in Swedish

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Figure: A leaflet about The Swedish Information Centre for Rare diseases

About the database

This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.