| 11q-deletionssyndromet |
Jacobsens syndrom |
| 13q-deletionssyndromet |
Monosomi 13q-syndromet |
| 18p-deletionssyndromet |
|
| 18q-deletionssyndromet |
|
| 1p36-deletionssyndromet |
Partiell monosomi 1p36-syndromet |
| 20p-duplikationssyndromet |
|
| 22q11-deletionssyndromet |
DiGeorges syndrom, Velokardiofacialt syndrom , CATCH 22 |
| 22q13.3-deletionssyndromet |
|
| 22q13-deletionssyndromet |
22q13.3-deletionssyndromet, Phelan-McDermids syndrom |
| 4p-deletionssyndromet |
|
| 4q-deletionssyndromet |
|
| 5p-deletionssyndromet |
|
| 9p-deletionssyndromet |
|
| 9p-duplikationssyndromet |
|
| 9q-duplikationssyndromet |
|
| Aarskogs syndrom |
Faciodigitogenitalt syndrom, Faciogenitalt syndrom |
| Adrenogenitalt syndrom |
|
| Adrenoleukodystrofi och Adrenomyeloneuropati |
ALD, AMN |
| Adrenomyeloneuropati |
|
| AGS |
|
| Aicardis syndrom |
|
| AIP |
|
| Akondroplasi |
|
| Akrocefalosyndaktyli typ I |
|
| Akrocefalosyndaktyli typ III |
|
| Akrocefalosyndaktyli typ V |
|
| Akut intermittent porfyri |
AIP |
| Alagilles syndrom |
Arteriohepatisk dysplasi, Monosomi 20p12-syndromet |
| Albers-Schönbergs sjukdom |
|
| Albinism |
|
| ALD |
|
| Alexanders sjukdom |
|
| Alfa-galaktosidas A-brist |
|
| Alfa-L-iduronidasbrist |
MPS I (IH, IH/S, IS) |
| Alfa-mannosidasbrist |
|
| Alkaptonuri |
|
| Alpers sjukdom |
Alpers-Huttenlochers sjukdom |
| Alpers-Huttenlochers sjukdom |
|
| Alports syndrom |
|
| ALS |
Progressiv bulbär pares, Pseudobulbär pares, Primär lateral skleros |
| Alström-Hallgrens syndrom |
|
| Alströms syndrom |
Alström-Hallgrens syndrom |
| AMN |
|
| Amyotrofisk lateralskleros |
ALS, Progressiv spinal muskelatrofi, Progressiv bulbär pares, Pseudobulbär pares, Primär lateral... |
| Analatresi |
Anorektal missbildning |
| Androgen insensitivity syndrome |
AIS |
| Androgenokänslighetssyndromet |
Androgen insensitivity syndrome, AIS, Okänslighet för manligt könshormon, Testikulär feminisering |
| Angelmans syndrom |
|
| Angioosteohypertrofiskt syndrom |
|
| Anhidrotisk ektodermal dysplasi |
|
| Anonymous |
Hjärnsjukdom utan känd orsak |
| Anorektal missbildning |
|
| Aperts syndrom |
Akrocefalosyndaktyli typ I |
| Argininosuccinatlyasbrist |
ASL-brist |
| Arteriohepatisk dysplasi |
|
| Arylsulfatas B-brist |
MPS VI |
| AT |
|
| Ataxia telangiectasia |
AT, Louis-Bars sjukdom |
| Autoimmunt lymfoproliferativt syndrom |
ALPS, Canale-Smiths syndrom |
| Axenfeld-Riegers syndrom |
Axenfelds anomali, Riegers anomali |
| Axenfelds anomali |
|
| Bardet-Biedls syndrom |
Laurence-Moons syndrom |
| Beans syndrom |
|
| Beckers muskeldystrofi |
BMD |
| Beckers myotoni |
|
| Beckwith-Wiedemanns syndrom |
BWS |
| Behçets sjukdom |
|
| Benign essentiell blefarospasm |
|
| Bests makuladystrofi |
Vitelliform makuladystrofi |
| Beta-galaktosidasbrist |
MPS IV, Galaktos 6-sulfatasbrist |
| Beta-glukuronidasbrist |
MPS VII |
| BFLS |
|
| Blackfan-Diamonds anemi |
Kongenital hypoplastisk anemi |
| Blefarospasm |
Benign essentiell blefarospasm |
| Blue rubber bleb nevus-syndromet |
Beans syndrom |
| Blåsexstrofi |
-- |
| Blödarsjuka (Hemofili A och B samt svår och medelsvår form av von Willebrands sjukdom) |
Hemofili A och B, von Willebrands sjukdom svår och medelsvår form |
| BMD |
|
| BOR |
|
| Brachmann-de Langes syndrom |
|
| Brankiootorenal dysplasi |
|
| Brankiootorenalt syndrom |
BOR, Brankiootorenal dysplasi, Brankiootosyndromet, Melnick-Frasers syndrom |
| Brankiootosyndromet |
|
| Brutons sjukdom/agammaglobulinemi |
Könsbunden agammaglobulinemi |
| Bullös iktyos |
Iktyos, kongenital |
| BWS |
|
| Börjeson-Forssman-Lehmanns syndrom |
BFLS |
| CADASIL |
Cerebral autosomal dominant arteriopati med subkortikala infarkter och leukoencefalopati |
| CAH |
AGS, Adrenogenitalt syndrom |
| Canavans leukodystrofi |
|
| Cardiofaciocutaneous syndrome |
|
| Cat eye-syndromet |
|
| CATCH 22 |
Velokardiofacialt syndrom |
| CCD |
|
| CCHS |
|
| CD40-ligand defekt |
|
| CDG-syndromet typ Ia |
Congenital disorders of glycosylation |
| CdL |
|
| Central core disease |
|
| Central neurofibromatos |
Vestibularisschwannomatos |
| Centronukleär myopati |
Myotubulär myopati |
| Ceratosis follicularis |
|
| Cerebral autosomal dominant arteriopati med subkortikala infarkter och leukoencefalopati |
|
| Cerebral gigantism |
|
| Cerebrohepatorenalt syndrom |
|
| Ceroid lipofuscinosis neuronal, type 1 |
|
| CF |
Mukoviskoidos |
| CFC |
|
| CGD |
|
| CHARGE association |
|
| CHARGE syndrom |
CHARGE association |
| Chondrodysplasia punctata, autosomal recessiv |
Chondrodystrofia calcificans, autosomal recessiv, Rizomelisk chondrodysplasia punctata |
| Chondrodysplasia punctata, X-kromosombunden dominant |
Chondrodystrophia calcificans, X-kromosombunden dominant |
| Chondrodysplasia punctata, X-kromosombunden recessiv |
Chondrodystrophia calcificans, X-kromosombunden recessiv |
| Chondrodystrophia calcificans, autosomal recessiv |
|
| Chondrodystrophia calcificans, X-kromosombunden dominant |
|
| Christ-Siemens-Touraines syndrom |
|
| Chronic granulomatous disease |
|
| Chronic inflammatory demyelinating polyneuropathy |
|
| Churg-Strauss syndrom |
|
| CIDP |
Chronic inflammatory demyelinating polyneuropathy, Kronisk inflammatorisk demyeliniserande... |
| CJD |
|
| Cleidokranial dysplasi |
CCD |
| CLN1 |
|
| CLN3 |
|
| Cockaynes syndrom |
|
| Comel-Nethertons syndrom |
|
| Common variable immunodeficiency |
|
| Congenital adrenal hyperplasia |
|
| Congenital central hypoventilation syndrome |
|
| Congenital disorders of glycosylation |
|
| Cornelia de Langes syndrom |
CdL, Brachmann-de Langes syndrom, de Langes syndrom |
| CPEO |
|
| Creutzfeldt-Jakob disease |
|
| Creutzfeldt-Jakobs sjukdom |
Creutzfeldt-Jakob disease, CJD |
| Cri du chat-syndromet |
5p-deletionssyndromet |
| Crouzons syndrom |
|
| CVID |
|
| Cystinos |
|
| Cystisk fibros |
CF, Cystisk pankreasfibros, Mukoviskoidos |
| Cystisk pankreasfibros |
|
| Dancing eye syndrome |
|
| Dandy-Walkers syndrom |
|
| Dariers sjukdom |
Keratosis follicularis |
| DBA |
|
| de Langes syndrom |
|
| De Morsiers syndrom |
|
| Derivatkromosom 22-syndromet |
Emanuels syndrom, Partiell trisomi 11/22 |
| Dermatomyosit |
|
| Desintegrativ störning |
Hellers syndrom |
| Diamond-Blackfans anemi |
DBA, Blackfan-Diamonds anemi, Kongenital hypoplastisk anemi |
| Diastrofisk dysplasi |
|
| DiGeorges syndrom |
|
| DMD |
|
| Duchennes muskeldystrofi |
DMD |
| Duplikation 5p-syndromet |
|
| Duplikation 5q-syndromet |
|
| Duplikation 8q-syndromet |
|
| Dyskeratosis congenita |
Hoyeraal-Hreidarssons syndrom |
| Dystrofia myotonika |
Steinerts sjukdom, Dystrofia myotonika typ 1, Kongenital dystrofia myotonika, Dystrofia myotonika... |
| Dystrofia myotonika typ 1 |
|
| Dystrofia myotonika typ 2 |
|
| Eagle-Barretts syndrom |
|
| EB |
|
| EDMD |
|
| EDS |
|
| Edwards syndrom |
|
| Ehlers-Danlos syndrom |
EDS |
| Ektodermal dysplasi |
|
| Ellis-van Crevelds syndrom och Weyers akrofaciala dysostos |
Kondroektodermal dysplasi |
| Emanuels syndrom |
|
| Emery-Dreifuss muskeldystrofi |
EDMD |
| Encefalit orsakad av HSV-1 (HHV1) och HSV-2 (HHV2) |
|
| Eosinofilt granulom |
|
| Epidermolysis bullosa |
EB |
| Erytropoetisk protoporfyri |
Porfyri, erytropoetisk protoporfyri, Ärftlig ferrokelatasbrist |
| Esofagusatresi |
Trakeoesofageal fistel |
| E-trisomi |
|
| Fabrys sjukdom |
Alfa-galaktosidas A-brist |
| Faciodigitogenitalt syndrom |
|
| Faciogenitalt syndrom |
|
| Facioskapulohumeral muskeldystrofi |
FSHD |
| Falskt tarmvred |
|
| Familjär amyloidos med polyneuropati |
FAP, Skelleftesjukan |
| Familjär hemofagocyterande lymfohistiocytos |
|
| Familjär medelhavsfeber |
FMF |
| Familjär medullär tyroideacancer |
|
| Fanconis anemi |
|
| FAP |
|
| Fenylketonuri |
Phenylketonuria, PKU |
| FHL |
|
| Fibrodysplasia ossificans progressiva |
FOP, Myositis ossificans progressiva, MOP |
| Floating-Harborsyndromet |
Pelletier-Leistis syndrom |
| FMF |
|
| Fokal dermal hypoplasi |
|
| FOP |
|
| Fosfofruktokinasbrist |
|
| Fragil X-syndromet |
FRAXA-syndromet |
| Franceschetti-Kleins syndrom |
|
| FRAXA-syndromet |
|
| FRDA |
|
| Friedreichs ataxi |
FRDA |
| FSHD |
|
| Fukyamas kongenitala muskeldystrofi |
|
| Förvärvad epileptisk språkstörning |
|
| Galaktos 6-sulfatasbrist |
|
| Galaktosemi |
|
| Gauchers sjukdom |
Morbus Gaucher |
| Gillespies syndrom |
|
| Glaukom, kongenitalt |
|
| GLD |
|
| Globoidcell leukodystrofi |
|
| Glutarsyreemi typ I |
|
| Glutarsyreuri typ I |
Glutarsyreemi typ 1, Glutaryl-CoA dehydrogenas brist |
| Glutaryl-CoA dehydrogenas brist |
|
| Glykogenos typ II |
|
| Glykogenos typ V |
|
| Glykogenos typ VII |
|
| GM2-gangliosidos |
Hexosaminidas A-brist, Tay-Sachs sjukdom, Hexosaminidas B-brist, Sandhoffs sjukdom,... |
| Goldenhars syndrom |
Okuloaurikulovertebralt spektrum, OAVS, Hemifacial mikrosomi |
| Goltz syndrom |
Fokal dermal hypoplasi |
| Grön starr, medfödd |
|
| HAE |
|
| Hallervorden-Spatz sjukdom |
|
| Hand-Schüller-Christians sjukdom |
|
| Hellers syndrom |
|
| Hemifacial mikrosomi |
|
| Hemofagocyterande syndrom |
Familjär hemofagocyterande lymfohistiocytos, FHL |
| Hemofili A |
|
| Hemofili B |
|
| Hepatolentikulär degeneration |
|
| Hereditary neuropathy with liability to pressure palsies |
|
| Hereditär neuropati med kompressionsneuropatier |
Hereditary neuropathy with liability to pressure palsies, HNPP, Ärftlig tryckkänslig neuropati |
| Hereditär spastisk parapares |
Hereditär spastisk paraplegi, Strümpel-Lorrains syndrom |
| Hereditär spastisk paraplegi |
Hereditär spastisk paraplegi, Strümpel-Lorrains syndrom |
| Hereditärt angioödem |
HAE |
| Heredopathia atactica polyneuritiformis |
|
| Herpes simplexencefalit |
Herpesencefalit, Encefalit orsakad av HSV-1 (HHV1) och HSV-2 (HHV2) |
| Herpesencefalit |
|
| Herpesencefalit hos nyfödda |
|
| Hippel-Lindaus syndrom |
|
| Histiocytosis X |
|
| Hjärnsjukdom utan känd orsak |
|
| HNPP |
|
| Homocystinuri |
|
| Hoyeraal-Hreidarssons syndrom |
|
| Hunters sjukdom |
Mukopolysackaridos typ II, MPS II, Iduronatsulfatasbrist |
| Huntingtons chorea |
|
| Huntingtons sjukdom |
Huntingtons chorea, Juvenil Huntingtons sjukdom |
| Hurler/Scheies sjukdom |
|
| Hurlers sjukdom |
|
| Hurlers, Hurler-Scheies och Scheies sjukdom |
Mukopolysackaridos typ I (IH, IH/S, IS), MPS I (IH, IH/S, IS), Alfa-L-iduronidasbrist |
| Hyper-IgE-syndromet |
Jobs syndrom, Hyperimmunglobulin E-syndromet, HIES |
| Hyper-IgM-syndromet |
CD40-liganddefekt, Immundefekt med normalt eller högt IgM |
| Hyperkalemisk periodisk paralys och Paramyotonia congenita |
HyperPP, von Eulenburgs sjukdom |
| HyperPP |
|
| Hypofosfatasi |
|
| Hypogammaglobulinemi |
|
| Hypogonadotrop hypogonadism |
|
| Hypohidrotisk ektodermal dysplasi |
Anhidrotisk ektodermal dysplasi, Ektodermal dysplasi |
| Hypohidrotisk ektodermal dysplasi med immunbrist |
|
| IBM |
|
| Iduronatsulfatasbrist |
|
| Iktyos, kongenital |
|
| Immotile-cilia syndrome |
|
| Immundefekt med normalt eller högt IgM |
|
| INCL |
|
| Inclusion body myositis |
|
| Incontinentia pigmenti |
|
| Incontinentia pigmenti achromians |
|
| Infantil neuronal ceroidlipofuscinos |
INCL, Ceroid lipofuscinosis neuronal, type 1, CLN1 |
| Inklusionskroppsmyosit |
Inclusion body myositis, IBM |
| Integrin α-brist |
|
| Interstitiell deletion 4q |
|
| Intestinal pseudoobstruktion |
Falskt tarmvred |
| Isaacs syndrom |
|
| Isokromosom 12p-syndromet |
|
| Isokromosom 18p-syndromet |
Tetrasomi 18p-syndromet |
| Itos hypomelanos |
Incontinentia pigmenti achromians |
| Jacobsens syndrom |
|
| Jouberts syndrom |
|
| Juvenil Huntingtons sjukdom |
|
| Juvenil neuronal ceroid-lipofuscinos |
|
| Kabuki-makeupsyndromet |
|
| Kabuki-syndromet |
Kabuki makeup-syndromet, Niikawa-Kurokis syndrom |
| Kallmanns syndrom |
Hypogonadotrop hypogonadism |
| Kardiofaciokutant syndrom |
Cardiofaciocutaneous syndrome, CFC |
| Kartageners syndrom |
|
| Kearns-Sayres syndrom och Pearsons syndrom |
KSS |
| Kennedys sjukdom |
Spinobulbär muskelatrofi, X-kromosombunden, SBMA |
| Keratosis follicularis |
|
| Kinsbournes syndrom |
Dancing eye syndrome, Opsoklonus-myoklonus |
| Klippel-Feils syndrom |
|
| Klippel-Trenaunays syndrom |
Angioosteohypertrofiskt syndrom, Klippel-Trenaunay-Webers syndrom |
| Klippel-Trenaunay-Webers syndrom |
|
| Kongenital binjurebarkshyperplasi |
Congenital adrenal hyperplasia, CAH, Adrenogenitalt syndrom, AGS |
| Kongenital dystrofia myotonika |
|
| Kongenital hypoplastisk anemi |
|
| Kongenital iktyos |
Lamellär iktyos, Bullös iktyos, Iktyos, kongenital |
| Kongenital muskeldystrofi 1C |
|
| Kongenital muskeldystrofi 1D |
|
| Kongenital muskeldystrofi med laminin α2-brist |
|
| Kongenital muskeldystrofi med rigid spine |
|
| Kongenital myasteni |
|
| Kongenitala muskeldystrofier |
Se gröna rutan nedan |
| Kongenitalt centralt hypoventilationssyndrom |
Congenital central hypoventilation syndrome, CCHS |
| Kongenitalt glaukom |
Glaukom, kongenitalt, Grön starr, medfödd, Medfödd grön starr |
| Kostmanns sjukdom |
|
| Krabbes sjukdom |
Globoidcell leukodystrofi, GLD |
| Kromosom 1, 1p36-deletionssyndromet |
|
| Kromosom 1, Partiell monosomi 1p36-syndromet |
|
| Kromosom 11, 11q-deletionssyndromet |
|
| Kromosom 11, Derivatkromosom 22-syndromet |
|
| Kromosom 11, Partiell trisomi 11/22 |
|
| Kromosom 12, Isokromosom 12p-syndromet |
|
| Kromosom 12, Tetrasomi 12p-syndromet |
|
| Kromosom 13, 13q-deletionssyndromet |
|
| Kromosom 13, Monosomi 13q-syndromet |
|
| Kromosom 13, Trisomi 13-syndromet |
|
| Kromosom 14, Trisomi 14-mosaiksyndromet |
|
| Kromosom 15, 15q-duplikationssyndromet |
|
| Kromosom 15, Markörkromosom 15-syndromet |
|
| Kromosom 15, Partiell trisomi 15q-syndromet |
|
| Kromosom 15, Trisomi 15q-syndromet |
|
| Kromosom 18, 18p-deletionssyndromet |
|
| Kromosom 18, 18q-deletionssyndromet |
|
| Kromosom 18, Isokromosom 18p-syndromet |
|
| Kromosom 18, Monosomi 18p-syndromet |
|
| Kromosom 18, Monosomi 18q-syndromet |
|
| Kromosom 18, Tetrasomi 18p-syndromet |
|
| Kromosom 18, Trisomi 18-syndromet |
|
| Kromosom 20, 20p-duplikationssyndromet |
|
| Kromosom 20, Monosomi 20p12-syndromet |
|
| Kromosom 20, Trisomi 20p-syndromet |
|
| Kromosom 22, 22q11-deletionssyndromet |
|
| Kromosom 22, 22q13.3-deletionssyndromet |
|
| Kromosom 22, 22q13-deletionssyndromet |
|
| Kromosom 22, CATCH 22 |
|
| Kromosom 22, Ringkromosom 22-syndromet |
|
| Kromosom 4, 4p-deletionssyndromet |
|
| Kromosom 4, 4q-deletionssyndromet |
|
| Kromosom 4, Interstitiell deletion 4q |
|
| Kromosom 4, Monosomi 4p-syndromet |
|
| Kromosom 4, Monosomi 4q-syndromet |
|
| Kromosom 5, 5p-deletionssyndromet |
|
| Kromosom 5, Duplikation 5p-syndromet |
|
| Kromosom 5, Duplikation 5q-syndromet |
|
| Kromosom 5, Trisomi 5p-syndromet |
|
| Kromosom 5, Trisomi 5q-syndromet |
|
| Kromosom 8, Duplikation 8q-syndromet |
|
| Kromosom 8, Trisomi 8-mosaiksyndromet |
|
| Kromosom 8, Trisomi 8q-syndromet |
|
| Kromosom 9, 9p-deletionssyndromet |
|
| Kromosom 9, 9p-duplikationssyndromet |
|
| Kromosom 9, 9q-duplikationssyndromet |
|
| Kromosom 9, Monosomi 9p-syndromet |
|
| Kromosom 9, Trisomi 9-mosaiksyndromet |
|
| Kromosom 9, Trisomi 9p-syndromet |
|
| Kromosom 9, Trisomi 9q-syndromet |
|
| Kromosom 9, Trisomi 9-syndromet |
|
| Kronisk granulomatös sjukdom |
CGD, Chronic granulomatous disease |
| Kronisk inflammatorisk demyeliniserande polyneuropati |
|
| KSS |
|
| Kugelberg-Welanders sjukdom |
|
| Könsbunden agammaglobulinemi |
|
| Könsbunden gammaglobulinbrist |
|
| Lambert-Eatons myastena syndrom |
|
| Lamellär iktyos |
|
| Landau-Kleffners syndrom |
Förvärvad epileptisk språkstörning |
| Langerhans cellhistiocytos |
LCH, Eosinofilt granulom, Hand-Schüller-Christians sjukdom, Histiocytosis X, Letterer-Siwes sjukdom |
| Larsens syndrom |
|
| Laurence-Moon-Bardet-Biedls syndrom |
LMBB, Bardet-Biedls syndrom, Laurence-Moons syndrom |
| Laurence-Moons syndrom |
|
| LCH |
|
| Lebers hereditära optikusneuropati |
LHON |
| Lebers kongenitala amauros |
|
| Leighs syndrom |
Subakut nekrotiserande encefalomyelopati |
| Lesch-Nyhans syndrom |
|
| Letterer-Siwes sjukdom |
|
| LHON |
|
| Lindaus sjukdom |
|
| LMBB |
|
| LMNA-relaterad kongenital muskeldystrofi |
|
| Louis-Bars sjukdom |
|
| Lowes syndrom |
Okulocerebrorenalt syndrom |
| LPI |
|
| Lysinurisk proteinintolerans |
LPI |
| Malign hypertermi |
|
| Mandibulofacial dysostos |
|
| Mannosidos |
Alfa-mannosidasbrist |
| Maple syrup urine disease |
MSUD |
| Marfans syndrom |
|
| Markörkromosom 15-syndromet |
|
| Marmorbensjuka |
|
| Maroteaux-Lamys sjukdom |
Mukopolysackaridos typ VI, MPS VI, Arylsulfatas B-brist |
| McArdles sjukdom |
Glykogenos typ V, Myofosforylasbrist |
| McCune-Albrights syndrom |
|
| MCPH |
|
| MED |
|
| Medelhavsfeber, familjär |
|
| Medfödd benskörhet |
|
| Medfödd cilieorörlighet |
|
| Medfödd grön starr |
|
| Medfödd spondyloepifyseal dysplasi |
Spondyloepiphyseal dysplasia congenita |
| MELAS |
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes |
| Melnick-Frasers syndrom |
|
| MEN 1 |
|
| MEN 2 |
|
| MERRF |
Myoclonic epilepsy with ragged-red fibers |
| Metakromatisk leukodystrofi |
MLD |
| Microcephalia vera |
|
| Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes |
|
| Mitokondriella sjukdomar, en översikt |
|
| MLD |
|
| MMN |
|
| Mohrs syndrom (OFD II) |
|
| Monosomi 13q-syndromet |
|
| Monosomi 18p-syndromet |
18p-deletionssyndromet |
| Monosomi 18q-syndromet |
18q-deletionssyndromet |
| Monosomi 20p12-syndromet |
|
| Monosomi 4p-syndromet |
4p-deletionssyndromet, Wolf-Hirschhorns syndrom, Wolfs syndrom |
| Monosomi 4q-syndromet |
4q-deletionssyndromet, Interstitiell deletion 4q |
| Monosomi 9p-syndromet |
9p-deletionssyndromet |
| MOP |
|
| Morbus Gaucher |
|
| Morquios sjukdom |
Mukopolysackaridos typ IV, MPS IV, Galaktos 6-sulfatasbrist, Beta-galaktosidasbrist |
| Moyamoya |
Progressiv arteriell ocklusiv sjukdom |
| MPS I (IH, IH/S, IS) |
|
| MPS II |
|
| MPS III |
|
| MPS IV |
|
| MPS VI |
|
| MPS VII |
|
| MSUD |
|
| Mukopolysackaridos typ I (IH, IH/S, IS) |
|
| Mukopolysackaridos typ II |
|
| Mukopolysackaridos typ III |
|
| Mukopolysackaridos typ IV |
|
| Mukopolysackaridos typ VI |
|
| Mukopolysackaridos typ VII |
|
| Mukoviskoidos |
|
| Multifokal motorisk neuropati |
MMN |
| Multipel endokrin neoplasi typ 1 |
MEN 1, Wermers sjukdom |
| Multipel endokrin neoplasi typ 2 |
MEN 2, Sipples syndrom, Familjär medullär tyroideacancer |
| Multipel epifyseal dysplasi |
MED |
| Muscle-eye-brain disease |
|
| Myoclonic epilepsy with ragged-red fibers |
|
| Myofosforylasbrist |
|
| Myositis ossificans progressiva |
|
| Myotonia congenita |
Thomsens sjukdom, Beckers myotoni |
| Myotubulär myopati |
|
| Möbius syndrom |
|
| NARP |
Neuropati ataxi retinitis pigmentosa |
| NBIA 1 |
|
| Nemalinmyopati |
|
| Neonatal herpes simplexencefalit |
Neonatal herpesencefalit, Herpesencefalit hos nyfödda |
| Neonatal herpesencefalit |
|
| Nethertons syndrom |
Comel-Nethertons syndrom |
| Neurodegeneration with brain iron accumulation 1 |
|
| Neurofibromatos typ 2 |
NF2, Vestibularisschwannomatos, Central neurofibromatos |
| Neuropati ataxi retinitis pigmentosa |
|
| NF2 |
|
| Niikawa-Kurokis syndrom |
|
| Noonans syndrom |
|
| OAVS |
|
| OFD |
|
| OI |
|
| Okuloaurikulovertebralt spectrum |
|
| Okulocerebrorenalt syndrom |
|
| Okänslighet för manligt könshormon |
|
| ONH |
|
| ONH-syndromet |
|
| Opsoklonus-myoklonus |
|
| Optic nerve hypoplasia |
|
| Optikushypoplasi |
Optic nerve hypoplasia, ONH, ONH-syndromet, Septo-optisk dysplasi, De Morsiers syndrom |
| Ornithine transcarbamylase deficiency |
|
| Ornitintranskarbamylasbrist |
|
| Orofaciodigitalt syndrom I och II |
OFD, Papillone Léage-Psaumes syndrom (OFD I), Mohrs syndrom (OFD II) |
| Osteogenesis imperfecta |
OI, Medfödd benskörhet |
| Osteopetros |
Albers-Schönbergs sjukdom, Marmorbensjuka |
| OTC-brist |
Ornithine transcarbamylase deficiency, Ornitintranskarbamylasbrist |
| Pallister-Killians syndrom |
Isokromosom 12p-syndromet, Tetrasomi 12p-syndromet |
| Pantotenatkinas-associerad neurodegeneration |
PKAN, Neurodegeneration with brain iron accumulation 1, NBIA 1, Hallervorden-Spatz sjukdom |
| Papillone-Léage-Psaumes syndrom (OFD I) |
|
| Paramyotonia congenita |
|
| Paroxysmal nattlig hemoglobinuri |
PNH, Paroxysmal nokturn hemoglobinuri |
| Partiell monosomi 1p36-syndromet |
|
| Partiell trisomi 11/22 |
|
| Pataus syndrom |
|
| Pearsons syndrom |
|
| Pelizaeus-Merzbacher Disease |
PMD |
| Pelizaeus-Merzbachers sjukdom |
Pelizaeus-Merzbacher disease, PMD |
| PEO |
|
| Perisylviärt syndrom |
Kongenitalt bilateralt perisylviärt syndrom, Operculumsyndrom, Foix-Chavany-Maries syndrom,... |
| Pfeiffers syndrom |
Akrocefalosyndaktyli typ V |
| Phelan-McDermids syndrom |
|
| Phenylketonuria |
|
| PKAN |
|
| PKU |
|
| PMD |
|
| Polymyosit |
|
| Pompes sjukdom |
Glykogenos typ II, Surt maltasbrist |
| Porfyri, akut intermittent |
|
| Porfyri, erytropoetisk protoporfyri |
|
| Prader-Willis syndrom |
|
| Primär ciliär dyskinesi |
Immotile-cilia syndrom, Kartageners syndrom, Medfödd cilieorörlighet |
| Primär lateral skleros |
|
| Primär mikrocefali |
Primär mikrocefali, autosomal recessiv, MCPH, Microcephalia vera |
| Primär mikrocefali, autosomal recessiv |
|
| Progressiv arteriell ocklusiv sjukdom |
|
| Progressiv bulbär pares |
|
| Progressiv extern oftalmoplegi |
PEO, CPEO |
| Progressiv spinal muskelatrofi |
|
| PROMM |
|
| Proximal myoton myopati |
|
| Prune belly-syndromet |
Eagle-Barretts syndrom |
| Pseudoakondroplasi |
-- |
| Pseudobulbär pares |
|
| Rasmussens encefalit |
|
| Refsums sjukdom |
Heredopathia atactica polyneuritiformis |
| Retinocerebellär angiomatos |
|
| Retts syndrom |
|
| Riegers anomali |
|
| Ringkromosom 22-syndromet |
|
| Rizomelisk chondrodysplasia punctata |
|
| Rubinstein-Taybis syndrom |
|
| Russell-Silvers syndrom |
|
| Saethre-Chotzens syndrom |
Akrocefalosyndaktyli typ III |
| Sallas sjukdom |
Sialic acid storage disorder, SIASD, Sialuria Finnish type |
| Sanfilippos sjukdom |
Mukopolysackaridos typ III, MPS III |
| SBMA |
|
| Scheies sjukdom |
|
| SCID |
|
| SDS |
|
| Septo-optisk dysplasi |
|
| Severe combined immunodeficiency |
|
| Shwachman-Diamonds syndrom |
|
| Shwachmans syndrom |
Shwachman-Diamonds syndrom, SDS |
| Sialic acid storage disorder |
|
| Sialuria finnish type |
|
| SIASD |
|
| Sicklecellsanemi |
|
| Silver-Russells syndrom |
Russell-Silvers syndrom |
| Sipples syndrom |
|
| Sjögren-Larssons syndrom |
SLS |
| Skelleftesjukan |
|
| Sklerodermi |
Systemisk skleros |
| SLOS |
|
| SLO-syndromet |
|
| SLS |
|
| Slys sjukdom |
Mukopolysackaridos typ VII, MPS VII, Beta-glukuronidasbrist |
| SMA I |
|
| SMA II |
|
| SMA III |
|
| Smith-Lemli-Opitz syndrom |
SLOS, SLO-syndromet |
| Smith-Magenis syndrom |
|
| Sotos syndrom |
Cerebral gigantism |
| Spielmeyer-Vogts sjukdom |
Juvenil neuronal ceroidlipofuscinos, CLN3 |
| Spinal muskelatrofi |
SMA I (Werdnig-Hoffmanns sjukdom), SMA II, SMA III (Kugelberg-Welanders sjukdom) |
| Spinobulbär muskelatrofi, X-kromosombunden |
|
| Spondyloepifyseal dysplasi med sen debut |
Spondyloepiphyseal dysplasia tarda |
| Spondyloepifyseal dysplasia congenita |
|
| Spondyloepifyseal dysplasia tarda |
|
| Steinerts sjukdom |
|
| Stiff person syndrome |
|
| Strümpel-Lorrains sjukdom |
|
| Subakut nekrotiserande encefalomyelopati |
|
| Surt maltasbrist |
|
| Svår kombinerad immunbrist |
Severe combined immunodeficiency, SCID |
| Svår medfödd neutropeni |
Kostmanns sjukdom |
| Systemisk skleros |
|
| TAR-syndromet |
|
| Taruis sjukdom |
Glykogenos typ VII, Fosfofruktokinasbrist |
| Testikulär feminisering |
|
| Tetrasomi 12p-syndromet |
|
| Tetrasomi 18p-syndromet |
|
| Thalassemi |
|
| Thomsens sjukdom |
|
| Trakeoesofageal fistel |
|
| Treacher Collins syndrom |
Mandibulofacial dysostos, Franceschetti-Kleins syndrom |
| Trikorinofalangealt syndrom |
Langer-Giedions syndrom, Trichorhinophalangeal syndrome, TRPS |
| Trisomi 13-syndromet |
Pataus syndrom |
| Trisomi 18-syndromet |
E-trisomi, Edwards syndrom |
| Trisomi 20p-syndromet |
20p-duplikationssyndromet |
| Trisomi 5p-syndromet |
Duplikation 5p-syndromet |
| Trisomi 5q-syndromet |
Duplikation 5q-syndromet |
| Trisomi 8-mosaiksyndromet |
|
| Trisomi 8q-syndromet |
8q-duplikationssyndromet |
| Trisomi 9-mosaiksyndromet |
|
| Trisomi 9p-syndromet |
9p-duplikationssyndromet |
| Trisomi 9q-syndromet |
9q-duplikationssyndromet |
| Trisomi 9-syndromet |
Trisomi 9-mosaiksyndromet |
| TSC |
|
| Tuberous sclerosis complex |
|
| Tuberös skleros |
Tuberous sclerosis complex, TSC, Tuberös skleroskomplexet |
| Tuberös skleroskomplexet |
|
| Tyrosinemi typ 1 |
|
| Ullrichs kongenitala muskeldystrofi |
|
| Ushers syndrom |
|
| VACTERL |
VATER |
| WAGR |
|
| WAGR-syndromet |
WAGR |
| Walker-Warburgs syndrom |
|
| Variabel immunbrist |
Common variable immunodeficiency, CVID, Hypogammaglobulinemi |
| VATER |
|
| Velokardiofacialt syndrom |
|
| Werdnig-Hoffmanns sjukdom |
|
| Wermers sjukdom |
|
| Vestibularisschwannomatos |
|
| Williams syndrom |
Williams-Beurens syndrom |
| Williams-Beurens syndrom |
Williams-Beurens syndrom |
| Wilsons sjukdom |
Hepatolentikulär degeneration |
| Wiskott-Aldrichs syndrom |
|
| Vitelliform makuladystrofi |
|
| Wolf-Hirschhorns syndrom |
|
| Wolfs syndrom |
|
| von Eulenbergs sjukdom |
|
| von Hippel-Lindaus sjukdom |
Hippel-Lindaus syndrom, Lindaus sjukdom, Retinocerebellär angiomatos |
| von Willebrands sjukdom (svår form) |
|
| X-kromosombunden agammaglobulinemi |
Brutons sjukdom/agammaglobulinemi, Könsbunden gammaglobulinbrist, Könsbunden agammaglobulinemi |
| X-kromosombunden hypofosfatemisk rakit |
X-linked hypophosphatemia, XLH |
| XLH |
|
| X-linked hypophosphatemia |
|
| Zellwegers syndrom |
Cerebrohepatorenalt syndrom |
| Ärftlig ferrokelatasbrist |
|
| Ärftlig malign hypertermi |
Malign hypertermi |
| Ärftlig tryckkänslig neuropati |
|
