|
|
|
Epidermolytisk (bullös) iktyos »
[Lab info]
|
|
|
|
NMO Spectrum Disorders (NMOSD »
[Lab info]
|
|
0..9 |
11q-deletionssyndromet »
11q23 |
|
|
13q-deletionssyndromet »
13q |
|
|
18p-deletionssyndromet »
[Lab info]
|
|
18q-deletionssyndromet »
[Lab info]
|
|
1p36-deletionssyndromet »
1p36 |
|
|
21-hydroxylasbrist »
CYP21A2 |
|
|
22q11-deletionssyndromet »
22q11 |
TBX1 |
|
|
22q13-deletionssyndromet »
22q13 |
SHANK3 |
|
|
4q-deletionssyndromet »
[Lab info]
|
|
5-alfareduktasbrist »
SRD5A2 |
|
|
5-fluorouraciltoxicitet »
DPD |
|
|
5p-deletionssyndromet »
5p15.2 |
|
|
7q11.23 deletionssyndromet »
7q11.23 |
|
|
9p-deletionssyndromet »
[Lab info]
|
|
A |
|
AAE »
[Lab info]
|
|
Aarskogs syndrom »
FGD1 |
|
|
ACS1 »
FGFR2 |
|
|
ACS1 »
[Lab info]
|
|
Addisons Sjukdom »
[Lab info]
|
|
ADLD »
LMNB1 |
|
|
Adrenoleukodystrofi och Adrenomyeloneuropati »
[Lab info]
|
|
Adult-onset autosomal dominant leukodystrophy with autonomic symtoms »
LMNB1 |
|
|
AGU »
AGA |
|
|
aHUS »
[Lab info]
|
|
Aicardis syndrom »
[Lab info]
|
|
AID-defekt »
[Lab info]
|
|
AIP »
HMBS |
|
|
AIS »
AR |
|
|
Akondroplasi »
FGFR3 |
|
|
Akrocefalosyndaktyli typ I »
FGFR2 |
|
|
Akrocefalosyndaktyli typ I »
[Lab info]
|
|
Akrocefalosyndaktyli typ III »
TWIST |
FGFR2 |
|
|
Akrocefalosyndaktyli typ V »
FGFR1 |
FGFR2 |
|
|
Aktivatorproteinbrist »
[Lab info]
|
|
Akut intermittent porfyri »
HMBS |
|
|
Alagilles sjukdom »
JAG1 |
|
|
Albers-Schönbergs sjukdom »
[Lab info]
|
|
Albinism »
[Lab info]
|
|
ALD »
[Lab info]
|
|
Alexanders sjukdom »
GFAP |
|
|
alfa1-antitrypsinbrist »
PI |
|
|
Alfa-D-mannosidasbrist »
[Lab info]
|
|
Alfa-galaktosidas A-brist »
GLA |
|
|
Alfa-L-iduronidasbrist »
[Lab info]
|
|
Alfa-thalassemi »
HBA1 |
HBA2 |
|
|
Alkaptonuri »
HGD |
|
|
Alpers sjukdom »
POLG |
|
|
Alpers-Huttenlochers sjukdom »
POLG |
|
|
Alports syndrom »
COL4A5 |
|
|
ALPS »
[Lab info]
|
|
ALS »
[Lab info]
|
|
ALSP »
CSF1R |
|
|
Alström-Hallgrens syndrom »
ALMS1 |
|
|
Alströms syndrom »
ALMS1 |
|
|
AMN »
[Lab info]
|
|
Amyoplasi »
[Lab info]
|
|
Amyotrofisk lateralskleros »
[Lab info]
|
|
AN1 »
PAX6 |
|
|
AN2 »
PAX6 |
|
|
Anderson-Fabrys sjukdom »
GLA |
|
|
Androgenokänslighetssyndromet »
AR |
|
|
Angelmans syndrom »
SNRPN |
UBE3A |
|
|
Angiokeratoma corporis diffusum »
GLA |
|
|
Angioödem (förvärvat) »
[Lab info]
|
|
Angioödem (hereditärt) Aquired angioedema »
[Lab info]
|
|
Anhidrotisk ektodermal dysplasi »
[Lab info]
|
|
aniridi »
[Lab info]
|
|
Aniridi »
[Lab info]
|
|
Aniridia »
PAX6 |
|
|
Annan dermatomyosit M33.1 »
[Lab info]
|
|
Anti-NMDA-receptorencefalit »
[Lab info]
|
|
APECED »
AIRE |
|
|
Aperts syndrom »
[Lab info]
|
|
Aperts syndrom »
FGFR2 |
|
|
APS1/APECED »
AIRE |
|
|
ARCI »
[Lab info]
|
|
Argininosuccinate lyase deficiency »
ASL |
|
|
Argininosuccinatlyasbrist »
ASL |
|
|
ARPKD »
PKHD1 |
|
|
Arteriohepatisk dysplasi »
JAG1 |
|
|
Artrogrypos, klassisk »
[Lab info]
|
|
Arylsulfatas A-brist »
[Lab info]
|
|
Arylsulfatas B-brist »
[Lab info]
|
|
Arylsulfatas B-brist »
[Lab info]
|
|
ASL-brist »
ASL |
|
|
ASLD »
ASL |
|
|
Aspartoacylasbrist »
ASPA |
|
|
Aspartylglykosaminuri »
AGA |
|
|
AT »
[Lab info]
|
|
Ataxia telangiectasia »
[Lab info]
|
|
ataxi-syndromet »
FMR1 |
FMR2 |
|
|
ATR-X syndrom »
ATRX |
|
|
Atypiskt hemolytiskt uremiskt syndrom »
[Lab info]
|
|
Autoimmun polyendokrinopati-candidiasis-ektodermal dystrofi »
AIRE |
|
|
Autoimmunt lymfoproliferativt syndrom »
[Lab info]
|
|
Autoimmunt polyendokrint syndrom typ 1 »
AIRE |
|
|
Autosomal dominant leukodystrofi »
LMNB1 |
|
|
Autosomal dominant leukodystrofi med autonoma symtom »
LMNB1 |
|
|
Autosomal dominant leukodystrofi med LMNB1-duplikation »
LMNB1 |
|
|
Autosomal recessiv kongenital iktyos »
[Lab info]
|
|
Autosomal recessiv polycystisk njursjukdom »
PKHD1 |
|
|
Autosomal recessive polycystic kidney disease »
PKHD1 |
|
|
Axenfeld-Riegers syndrom »
[Lab info]
|
|
Axenfelds anomali »
[Lab info]
|
|
B |
|
Bardet-Biedls syndrom »
[Lab info]
|
|
Bartters syndrom och Gitelmans syndrom »
[Lab info]
|
|
BBS »
[Lab info]
|
|
Beans syndrom »
[Lab info]
|
|
Beckers muskeldystrofi »
DMD |
|
|
Beckers myotoni »
[Lab info]
|
|
Beckwith-Wiedemanns syndrom »
11p15 |
|
|
Beckwith-Wiedemann-spektrumtillstånd (BWSp) »
11p15 |
|
|
Behçets sjukdom »
[Lab info]
|
|
Bests makuladystrofi »
VMD2 |
|
|
Beta-galaktosidasbrist »
[Lab info]
|
|
Beta-glukuronidasbrist »
GUSB |
|
|
Beta-thalassemi »
HBB |
|
|
BFLS »
PHF6 |
|
|
BHD »
FLCN |
|
|
Birt-Hogg-Dubés syndrom »
FLCN |
|
|
Blackfan-Diamonds anemi »
RPS19 |
|
|
Blefarospasm »
[Lab info]
|
|
Blue rubber bleb nevus-syndromet »
[Lab info]
|
|
Blåsexstrofi »
[Lab info]
|
|
Blödarsjuka »
[Lab info]
|
|
BMD »
DMD |
|
|
BOR »
[Lab info]
|
|
BOS »
[Lab info]
|
|
Botniadystrofi »
RLBP |
|
|
Brachmann-de Langes syndrom »
NIPBL |
|
|
Branched-chain ketonuria »
[Lab info]
|
|
Brankiootorenal dysplasi »
[Lab info]
|
|
Brankiootorenalt syndrom »
[Lab info]
|
|
Brankiootosyndromet »
[Lab info]
|
|
BRCA1 »
BRCA1 |
BRCA2 |
CHEK2 |
|
|
BRCA2 »
BRCA1 |
BRCA2 |
CHEK2 |
|
|
Brosk-hårhypoplasisyndromet »
RMRP |
|
|
Brutons sjukdom »
BTK |
|
|
Bröstcancer, ärftlig »
BRCA1 |
BRCA2 |
CHEK2 |
|
|
BVMD »
VMD2 |
|
|
BWS »
11p15 |
|
|
Börjeson-Forssman-Lehmanns syndrom »
PHF6 |
|
|
C |
|
CACT-brist »
[Lab info]
|
|
CADASIL »
NOTCH3 |
|
|
CAH »
CYP11B1 |
P450C17 |
P450C21 |
|
|
CAH »
[Lab info]
|
|
Canale-Smiths syndrom »
[Lab info]
|
|
Canavans leukodystrofi »
ASPA |
|
|
Canavans leukodystrofi »
ASPA |
|
|
CAPS »
[Lab info]
|
|
Cardiofaciocutaneous syndrome »
[Lab info]
|
|
Carnitine uptake defect »
[Lab info]
|
|
Carolis sjukdom »
[Lab info]
|
|
Carolis sjukdom »
[Lab info]
|
|
Cartilage-hair hypoplasia »
RMRP |
|
|
Cat eye-syndromet »
22q11 |
|
|
CATCH 22 »
22q11 |
TBX1 |
|
|
CBS deficiency »
[Lab info]
|
|
CCD »
[Lab info]
|
|
CCHS »
[Lab info]
|
|
CD40-liganddefekt »
[Lab info]
|
|
CDG - 1A »
PMM2 |
PMI1 |
|
|
CDG - 1B »
[Lab info]
|
|
CDG-Ia »
PMM2 |
PMI1 |
|
|
CDG-Ib »
[Lab info]
|
|
CDGS-IB »
[Lab info]
|
|
CDLS »
NIPBL |
|
|
Central core disease »
RYR1 |
|
|
Central neurofibromatos »
NF2 |
|
|
Centronukleär myopati »
MTM1 |
|
|
Cerebello-okulo-renalt syndrom »
[Lab info]
|
|
Cerebral autosomal dominant arteriopati med subkortikala infarkter och leukoencefalopati »
NOTCH3 |
|
|
Cerebral gigantism »
NSD1 |
|
|
Cerebrohepatorenalt syndrom »
PEX1 |
|
|
CF »
CFTR |
|
|
CFC »
[Lab info]
|
|
CFTD »
[Lab info]
|
|
CGD »
[Lab info]
|
|
Charcot-Marie-Tooth »
PMP22 |
GJB1 |
MPZ |
17p11.2 |
|
|
CHARGE association »
CHD7 |
SEMA3E |
|
|
CHARGE-syndromet »
CHD7 |
SEMA3E |
|
|
CHH »
RMRP |
|
|
Chondrodysplasia punctata - X-kromosombunden dominant »
[Lab info]
|
|
Chondrodysplasia punctata, x-kromosombunden recessiv »
[Lab info]
|
|
Christ-Siemens-Touraines syndrom »
[Lab info]
|
|
Chronic granulomatous disease »
[Lab info]
|
|
Chronic mucocutaneous candidiasis disease »
[Lab info]
|
|
Chronic progressive external ophthalmoplegia »
[Lab info]
|
|
Chronic thromboembolic pulmonary hypertension »
[Lab info]
|
|
Churg-Strauss syndrom »
[Lab info]
|
|
CIDP »
[Lab info]
|
|
CINCA »
[Lab info]
|
|
CJD »
PRNP |
|
|
Cleidokranial dysplasi »
[Lab info]
|
|
CLN1 »
[Lab info]
|
|
CLN3 »
[Lab info]
|
|
CLN3 »
CLN3 |
|
|
CMCC »
[Lab info]
|
|
CMS »
[Lab info]
|
|
CMT »
PMP22 |
GJB1 |
MPZ |
17p11.2 |
|
|
Cockaynes syndrom »
[Lab info]
|
|
Coffin-Lowrys syndrom »
RPS6KA3 |
|
|
Coffin-Siris syndrom »
[Lab info]
|
|
Comel-Nethertons syndrom »
[Lab info]
|
|
Congenital Adrenal Hyperplasia »
CYP11B1 |
P450C17 |
P450C21 |
|
|
Congenital adrenal hyperplasia »
[Lab info]
|
|
Congenital central hypoventilation syndrome »
[Lab info]
|
|
Congenital disorder of glycosylation type Ia »
PMM2 |
PMI1 |
|
|
Congenital fiber type disproportion »
[Lab info]
|
|
Congenital myasthenic syndromes »
[Lab info]
|
|
Cornelia de Langes syndrom »
NIPBL |
|
|
Costellos syndrom »
[Lab info]
|
|
Cowdens sjukdom »
PTEN |
|
|
CPEO »
[Lab info]
|
|
CPS1 »
CPS1 |
|
|
CPT 1A-brist »
[Lab info]
|
|
CPT 2-brist »
[Lab info]
|
|
Creutzfeldt-Jakob disease »
PRNP |
|
|
Creutzfeldt-Jakobs sjukdom »
PRNP |
|
|
Cri-du-chat syndrom »
5p15.2 |
|
|
Crouzons syndrom »
FGFR2 |
|
|
Cryopyrin associated periodic syndromes »
[Lab info]
|
|
CTEPH »
[Lab info]
|
|
CUD »
[Lab info]
|
|
Curry-Hall syndrom »
EVC |
EVC2 |
|
|
Curry-Hall syndrome »
EVC |
EVC2 |
|
|
CVID »
[Lab info]
|
|
Cystationin-beta-syntasbrist »
[Lab info]
|
|
Cystinos »
[Lab info]
|
|
Cystisk fibros »
CFTR |
|
|
Cystisk pankreasfibros »
CFTR |
|
|
Cytochromoxidas brist - COX »
SCO2 |
|
|
D |
|
Dancing eye syndrome »
[Lab info]
|
|
Dandy-Walker-missbildning »
[Lab info]
|
|
Dandy-Walkers syndrom »
[Lab info]
|
|
Danons sjukdom »
LAMP2 |
|
|
Dariers sjukdom »
ATP2A2 |
|
|
DBA »
RPS19 |
|
|
de Langes syndrom »
NIPBL |
|
|
Dentato-rubro-pallido-luysian atrofi »
DRPLA |
|
|
Derivatkromosom 22-syndromet »
[Lab info]
|
|
Dermatomyosit »
[Lab info]
|
|
Desminopatier »
[Lab info]
|
|
Devics sjukdom »
[Lab info]
|
|
Diamond-Blackfans anemi »
RPS19 |
|
|
Diastrofisk dysplasi »
SLC26A2 |
|
|
DIDMOAD (diabetes insipidus, diabetes mellitus, bilateral optical atrophy, sensorineural deafness) »
[Lab info]
|
|
DiGeorges syndrom »
22q11 |
TBX1 |
|
|
DM1 »
DMPK |
ZNF9 |
|
|
DMD »
DMD |
|
|
DOCK8 »
[Lab info]
|
|
DPD brist »
DPD |
|
|
Dravets syndrom »
[Lab info]
|
|
DRPLA »
DRPLA |
|
|
Duchennes muskeldystrofi »
DMD |
|
|
Duplikation 17p11.2-syndromet »
17p11.2 |
RAI1 |
|
|
Dyskeratosis congenita »
[Lab info]
|
|
Dyskondrosteos »
SHOX |
SHOXY |
|
|
Dystrofia myotonika »
DMPK |
ZNF9 |
|
|
DYT 11 »
SGCE |
|
|
DYT1 »
DYT1 |
|
|
E |
|
EDMD »
[Lab info]
|
|
EDMD2 »
[Lab info]
|
|
EDS »
[Lab info]
|
|
Ehlers-Danlos syndrom »
[Lab info]
|
|
Ektodermal dysplasi »
[Lab info]
|
|
Ellis-van Crevelds syndrom »
EVC |
EVC2 |
|
|
Emanuels syndrom »
[Lab info]
|
|
Emery-Dreifuss muskeldystrofi »
[Lab info]
|
|
Encefalofacial angiomatos »
[Lab info]
|
|
Eosinofil granulomatos med polyangit »
[Lab info]
|
|
Erytrodermisk iktyos »
[Lab info]
|
|
erytropoetisk protoporfyri »
[Lab info]
|
|
Erytropoetisk protoporfyri »
[Lab info]
|
|
Esofagusatresi »
[Lab info]
|
|
Essentiell trombocytemi »
THPO |
MPL |
JAK2 |
|
|
F |
|
Fabrys sjukdom »
GLA |
|
|
Faciocutaneoskeletal syndrome »
[Lab info]
|
|
Faciodigitogenitalt syndrom »
FGD1 |
|
|
Faciogenitalt syndrom »
FGD1 |
|
|
Facioskapulohumeral muskeldystrofi »
4q35 |
|
|
FAH-brist »
FAH |
|
|
Familjär amyloid neuropati typ IV »
GSN |
|
|
Familjär hyperparathyroidism »
HRPT2 |
|
|
Familjär hypokalemi-hypomagnesemi »
[Lab info]
|
|
Familjär medelhavsfeber »
MEFV |
|
|
Familjär medullär tyroideacancer »
[Lab info]
|
|
Familjär medullär tyroideacancer »
RET Oncogene |
|
|
Familjär medullär tyroideacancer »
RET Oncogene |
|
|
Familjärt autoinflammatoriskt köldsyndrom »
[Lab info]
|
|
Fanconis anemi »
FANCA |
FANCC |
FANCG |
|
|
FCAS »
[Lab info]
|
|
FCS-syndromet »
[Lab info]
|
|
Fenylketonuri »
PAH |
|
|
Fibrodysplasia ossificans progressiva »
ACVR1 |
|
|
FLNB-related disorder »
[Lab info]
|
|
Floating-Harborsyndromet »
SRCAP |
|
|
FMF »
MEFV |
|
|
FMTC »
[Lab info]
|
|
FMTC »
RET Oncogene |
|
|
FMTC »
RET Oncogene |
|
|
Fokal dermal hypoplasi »
[Lab info]
|
|
Fokal dermal hypoplasi - Goltz syndrom »
PORCN |
|
|
FOP »
ACVR1 |
|
|
Fosfofruktokinasbrist »
PFKM |
|
|
Fosfomannosisomerasbrist »
[Lab info]
|
|
Fosfomannosisomerasbrist »
[Lab info]
|
|
Fosfomannosmutasbrist »
PMM2 |
PMI1 |
|
|
Fragil X-syndromet »
FMR1 |
FMR2 |
|
|
Fragilt X-associerat tremor »
FMR1 |
FMR2 |
|
|
Franceschetti-Kleins syndrom »
[Lab info]
|
|
FRAXA-syndromet »
FMR1 |
FMR2 |
|
|
FRDA »
FRDA |
|
|
Friedreichs ataxi »
FRDA |
|
|
FSHD »
4q35 |
|
|
FSHD »
HPRT1 |
|
|
FSHD1 »
4q35 |
|
|
Fumarylacetoacetasbrist »
FAH |
|
|
FXTAS »
FMR1 |
FMR2 |
|
|
Föllings sjukdom »
PAH |
|
|
G |
|
Galaktos 6-sulfatasbrist »
[Lab info]
|
|
Galaktosemi »
GALT |
|
|
Gauchers sjukdom »
GBA |
|
|
Gelsolinamyloidos »
GSN |
|
|
genitala missbildningar och retardation »
[Lab info]
|
|
Gilbert Syndrom »
UGT1A1 |
|
|
Gillespies sjukdom »
PAX6 |
|
|
Glaukom (kongenitalt) »
[Lab info]
|
|
GLD »
GALC |
|
|
Globoidcell leukodystrofi »
GALC |
|
|
Glukostransportprotein typ 1-brist »
SLC2A1 |
|
|
GLUT1-bristsyndromet »
SLC2A1 |
|
|
Glutarsyraemi typ 1 »
GCDH |
|
|
Glutarsyrauri typ I »
GCDH |
|
|
Glutaryl-CoA dehydrogenasbrist »
GCDH |
|
|
Glycinencefalopati »
AMT |
GLDC |
GCSH |
|
|
Glycogen storage disease (GSD) »
[Lab info]
|
|
Glycogen storage disease (GSD) »
GAA |
|
|
Glycogen storage disease type V »
[Lab info]
|
|
Glykogeninlagringssjukdomar med leverpåverkan »
[Lab info]
|
|
Glykogenos typ V »
[Lab info]
|
|
Glykogenos typ VII »
PFKM |
|
|
Glykogenoser med leverpåverkan »
GAA |
|
|
Glykogenoser med leverpåverkan »
[Lab info]
|
|
GM2-gangliosidos »
[Lab info]
|
|
Goldenhars syndrom »
[Lab info]
|
|
Gorham-Stouts sjukdom och generaliserad lymfatisk anomali »
[Lab info]
|
|
Grön starr (kongenital) »
[Lab info]
|
|
GSD V »
[Lab info]
|
|
H |
|
HAE »
[Lab info]
|
|
Hallervorden-Spatz sjukdom »
PANK2 |
|
|
Harlekin iktyos »
[Lab info]
|
|
hATTR-amyloidos »
[Lab info]
|
|
Hedesundasjukan »
TIA1 |
|
|
Hemifacial mikrosomi »
[Lab info]
|
|
Hemofili A och B »
[Lab info]
|
Hemokromatos »
HFE |
HJV |
HAMP |
TFR2 |
SLC40A1 |
|
|
Hemolytiskt uremiskt syndrom, atypiskt »
[Lab info]
|
|
Hepatolentikulär degeneration »
ATP7B |
|
|
Hepatorenal tyrosinemi »
FAH |
|
|
Hereditary angioedema »
[Lab info]
|
|
Hereditary brachial plexus neuropathy »
[Lab info]
|
|
Hereditary myopathy with lactic acidosis »
[Lab info]
|
|
Hereditary neuropathy with liability to pressure palsies »
[Lab info]
|
|
Hereditär amyloidos, finsk typ »
GSN |
|
|
Hereditär diffus leukoencefalopati med sfäroider »
CSF1R |
|
|
Hereditär diffus leukoencefalopati med sfäroider (HDLS) »
CSF1R |
|
|
Hereditär hemorragisk telangiektasi »
[Lab info]
|
|
Hereditär motorisk och sensorisk neuropati »
PMP22 |
GJB1 |
MPZ |
17p11.2 |
|
|
Hereditär neuralgisk amyotrofi »
[Lab info]
|
|
Hereditär sensorisk och autonom neuropati typ V »
[Lab info]
|
|
Hereditär spastisk parapares »
[Lab info]
|
|
Hereditära multipla osteokondrom »
[Lab info]
|
|
Hereditärt angioödem »
[Lab info]
|
|
Heredopathia atactica polyneuritiformis »
[Lab info]
|
|
Herpesencefalit hos nyfödda »
[Lab info]
|
|
Hexosaminidas A-brist »
[Lab info]
|
|
Hexosaminidas B-brist »
[Lab info]
|
|
HIES »
[Lab info]
|
|
Hippel-Lindaus syndrom »
VHL |
|
|
HML »
[Lab info]
|
|
HMO »
[Lab info]
|
|
HMSN »
PMP22 |
GJB1 |
MPZ |
17p11.2 |
|
|
HNPP »
[Lab info]
|
|
HNPP »
PMP22 |
MPZ |
17p11.2 |
|
|
Homocystinuri »
[Lab info]
|
|
Hoyeraal-Hreidarssons syndrom »
[Lab info]
|
|
HSAN V »
[Lab info]
|
|
HSP »
[Lab info]
|
|
HT1 »
FAH |
|
|
Hunters sjukdom »
IDS |
|
|
Huntingtons chorea »
Huntingtin |
|
|
Huntingtons sjukdom »
Huntingtin |
|
|
Hurlers »
[Lab info]
|
|
Hurlers »
[Lab info]
|
|
Hurlers, Hurler-Scheies och Scheies sjukdom »
[Lab info]
|
|
Hurler-Scheies och Scheies sjukdom »
[Lab info]
|
|
Hurler-Scheies och Scheies sjukdom »
[Lab info]
|
|
Hydroxylasbrist »
CYP21A2 |
|
|
Hyper IgE-syndrom »
[Lab info]
|
|
hyper-IgE-syndrom »
[Lab info]
|
|
Hyper-IgE-syndromet »
[Lab info]
|
|
Hyper-IgM-syndromet »
[Lab info]
|
|
Hyperimmunoglobulin E infection syndrome »
[Lab info]
|
|
Hyperkalemisk periodisk paralys »
SCN4A |
FIP1L1/PDGFRA [4q12] (CHIC2 deletion) |
|
|
Hyperkalemisk periodisk paralys och paramyotonia congenita »
SCN4A |
|
|
HyperPP »
SCN4A |
FIP1L1/PDGFRA [4q12] (CHIC2 deletion) |
|
|
Hyperprostaglandin E-syndromet »
[Lab info]
|
|
Hypofosfatasi »
[Lab info]
|
|
Hypogammaglobulinemi »
[Lab info]
|
|
Hypogonadotrop hypogonadism »
XP22.3 |
KAL1 |
|
|
Hypohidrotisk ektodermal dysplasi »
[Lab info]
|
|
Hypohidrotisk ektodermal dysplasi med immunbrist »
[Lab info]
|
|
Hypokalemisk periodisk paralys »
CACNL1A3 |
SCN4A |
KCNE3 |
|
|
Hypokondroplasi »
FGFR3 |
|
|
Hypoparatyreoidism »
[Lab info]
|
|
HypoPP »
CACNL1A3 |
SCN4A |
KCNE3 |
|
|
I |
|
idic(15)-syndromet »
[Lab info]
|
|
Iktyos »
GJB2 |
|
|
Iktyos (kongenital) »
[Lab info]
|
|
Immotile cilia syndrome »
[Lab info]
|
|
Immundefekt med normalt eller högt IgM »
[Lab info]
|
|
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked »
[Lab info]
|
|
INCL »
[Lab info]
|
|
Incontinentia pigmenti »
IKBKG |
|
|
Infantil neuronal ceroidlipofuscinos »
[Lab info]
|
|
Interstitiell deletion 4q »
[Lab info]
|
|
IPEX-liknande syndrom »
[Lab info]
|
|
IPEX-syndromet »
[Lab info]
|
|
Iron sulphur cluster deficiency myopathy »
[Lab info]
|
|
Isaacs syndrom »
[Lab info]
|
|
ISCU-myopati »
[Lab info]
|
|
Isokromosom 12p-syndromet »
[Lab info]
|
|
Isokromosom 18p-syndromet »
[Lab info]
|
|
Isovaleriansyrauri »
[Lab info]
|
|
Itos hypomelanos »
[Lab info]
|
|
J |
|
Jackson-Weiss »
FGFR2 |
|
|
Jacobsens syndrom »
11q23 |
|
|
Jervell och Lange-Nielsens syndrom »
[Lab info]
|
|
JLNS »
[Lab info]
|
|
JLNS »
KCNH2 |
KCNQ1 |
|
|
JNCL »
CLN3 |
|
|
JNCL »
[Lab info]
|
|
Jobs syndrom »
[Lab info]
|
|
Joubert-Boltshauser syndrom »
[Lab info]
|
|
Jouberts syndrom »
[Lab info]
|
|
Juvenil Battens sjukdom »
[Lab info]
|
|
Juvenil Battens sjukdom »
CLN3 |
|
|
Juvenil Huntingtons sjukdom »
Huntingtin |
|
|
Juvenil neuronal ceroidlipofuscinos »
[Lab info]
|
|
K |
|
Kabukisyndromet »
[Lab info]
|
|
Kallmanns syndrom »
XP22.3 |
KAL1 |
|
|
Karbamylfosfatsyntetasbrist »
CPS1 |
|
|
Kardiofaciokutant syndrom »
[Lab info]
|
|
Kardiokutant syndrom »
[Lab info]
|
|
Kardiokutant syndrom »
[Lab info]
|
|
Karnitin-palmitoyltransferas 1A-brist »
[Lab info]
|
|
Kartageners syndrom »
[Lab info]
|
|
Kearns-Sayres syndrom »
[Lab info]
|
|
Kennedys sjukdom »
AR |
|
|
Keratosis follicularis »
ATP2A2 |
|
|
Ketotic hyperglycinemia »
[Lab info]
|
|
Kinsbournes syndrom »
[Lab info]
|
|
Klippel-Feils anomali »
[Lab info]
|
|
Klippel-Feils syndrom »
[Lab info]
|
|
Klippel-Trenaunays syndrom »
[Lab info]
|
|
Kondroektodermal dysplasi »
EVC |
EVC2 |
|
|
Kongenital aniridi »
[Lab info]
|
|
Kongenital aniridi »
PAX6 |
|
|
Kongenital binjurebarkshyperplasi »
CYP21A2 |
|
|
Kongenital binjurebarkshyperplasi »
CYP11B1 |
P450C17 |
P450C21 |
|
|
Kongenital binjurebarkshyperplasi (CAH) »
[Lab info]
|
|
Kongenital dystrofia myotonika »
DMPK |
ZNF9 |
|
|
Kongenital fibertypsdisproportion »
[Lab info]
|
|
Kongenital hypoplastisk anemi »
RPS19 |
|
|
Kongenital iktyos »
[Lab info]
|
|
Kongenital myasteni »
[Lab info]
|
|
Kongenital myopati med fibertypsdisproportion »
[Lab info]
|
|
Kongenitala muskeldystrofier »
[Lab info]
|
|
Kongenitala myastena syndrom »
[Lab info]
|
|
Kongenitalt centralt hypoventilationssyndrom »
[Lab info]
|
|
Kongenitalt glaukom »
[Lab info]
|
|
Kongenitalt glaukom »
[Lab info]
|
|
Kostmanns sjukdom »
[Lab info]
|
|
Kostmanns sjukdom »
CSF3R |
ELA2 |
|
|
Kostmanns sjukdom »
CSF3R |
ELA2 |
|
|
Krabbes sjukdom »
GALC |
|
|
Kronisk granulomatös sjukdom »
[Lab info]
|
|
Kronisk inflammatorisk demyeliniserande polyneuropati »
[Lab info]
|
|
Kronisk mukokutan candidiasis »
[Lab info]
|
|
Kroniskt infantilt neurologiskt hud- och ledsyndrom »
[Lab info]
|
|
Kryopyrinassocierade periodiska syndrom »
[Lab info]
|
|
L |
|
Lamellär iktyos »
[Lab info]
|
|
LAMP2 »
LAMP2 |
|
|
Langer-Giedions syndrom »
[Lab info]
|
|
LAPS-syndromet (laryngotracheal stenosis, arthropathy, prognathism, short stature) »
[Lab info]
|
|
Larsens syndrom »
[Lab info]
|
|
Larsens syndrom (dominant form) »
[Lab info]
|
|
Laurence-Moon-Bardet-Biedls syndrom »
[Lab info]
|
|
LCA »
[Lab info]
|
|
LCHAD-brist »
[Lab info]
|
|
LCHADD »
[Lab info]
|
|
Leber congenital amaurosis »
[Lab info]
|
|
Lebers kongenitala amauros »
[Lab info]
|
|
Lebers kongenitala amauros »
[Lab info]
|
|
Lebers opticusneuropati »
MTND4 |
|
|
Leighs syndrom »
[Lab info]
|
|
LEOPARD syndrom »
[Lab info]
|
|
LEOPARD syndrom »
[Lab info]
|
|
Lesch-Nyhans syndrom »
HPRT1 |
|
|
LFSNHL (low frequency sensorineural hearing loss) »
[Lab info]
|
|
LGMD »
[Lab info]
|
|
LHON »
MTND4 |
|
|
Li-Fraumeni Syndrom »
P53 [17p13.1] |
|
|
Limb-girdle muskeldystrofi »
[Lab info]
|
|
Lindaus sjukdom »
VHL |
|
|
Linderholms myopati »
[Lab info]
|
|
LMBBS »
[Lab info]
|
|
Loeys-Dietz syndrom »
[Lab info]
|
|
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency »
[Lab info]
|
|
Louis-Bars sjukdom »
[Lab info]
|
|
Lowes syndrom »
[Lab info]
|
|
LPI »
[Lab info]
|
|
LQTS »
[Lab info]
|
|
LQTS »
KCNH2 |
KCNQ1 |
|
|
Lymfangioleiomyomatos »
[Lab info]
|
|
Lysinurisk proteinintolerans »
[Lab info]
|
|
Lysosomassocierat membranprotein 2 »
LAMP2 |
|
|
Långt QT-syndrom »
[Lab info]
|
|
Långt QT-syndrom »
KCNH2 |
KCNQ1 |
|
|
Långt QT-syndrom »
KCNH2 |
KCNQ1 |
|
|
M |
Machado-Josephs sjukdom »
ATXN1 |
ATXN2 |
ATXN3 |
CACNA1A |
ATXN7 |
|
|
Malign hypertermi »
RYR1 |
|
|
Malign hypertermikänslighet »
[Lab info]
|
|
Mandibulofacial dysostos »
[Lab info]
|
|
Mannosidos »
[Lab info]
|
|
Mannosidos »
[Lab info]
|
|
Maple syrup urine disease »
[Lab info]
|
|
Marble bone disease »
[Lab info]
|
|
Marchiafava-Micheli disease »
[Lab info]
|
|
Marfans syndrom »
FBN1 |
TGFBR1 |
TGFBR2 |
|
|
Markörkromosom 15-syndromet »
[Lab info]
|
|
Maroteaux-Lamys sjukdom »
[Lab info]
|
|
Maroteaux-Lamys sjukdom »
[Lab info]
|
|
Mastocytos »
[Lab info]
|
|
MC4R deficiency »
MC4R |
|
|
MCAD-brist »
[Lab info]
|
|
McArdles sjukdom »
[Lab info]
|
|
McCune-Albrights syndrom »
[Lab info]
|
|
MCPH »
[Lab info]
|
|
MCPH-SCKS spektrum (Primär mikrocefali: Primär mikrocefali (autosomal recessiv) »
[Lab info]
|
|
MECP2-duplikationssyndromet »
[Lab info]
|
|
MED »
[Lab info]
|
|
Medfödd aniridi »
[Lab info]
|
|
Medfödd benskörhet »
COL1A1 |
COL1A2 |
|
|
Medfödd cilieorörlighet »
[Lab info]
|
|
Medfödd grön starr »
[Lab info]
|
|
Medfödd spondyloepifyseal dysplasi »
[Lab info]
|
|
Medium-chain acyl-CoA dehydrogenase deficiency »
[Lab info]
|
|
MELAS »
[Lab info]
|
|
Melnick-Frasers syndrom »
[Lab info]
|
|
MEN 1 »
MEN1 |
|
|
MEN 2A »
RET Oncogene |
|
|
MEN 2B »
RET Oncogene |
|
|
MEN1 »
[Lab info]
|
|
MEN1 »
MEN1 |
|
|
MEN2 »
RET Oncogene |
|
|
MEN2 »
RET Oncogene |
|
|
MEN2 »
[Lab info]
|
|
Meretojas sjukdom »
GSN |
|
|
MERRF »
[Lab info]
|
|
Metakromatisk leukodystrofi »
[Lab info]
|
|
Metaphyseal chondrodysplasia McKusick type »
RMRP |
|
|
Metylen-tetrahydrofolat-reduktasbrist »
MTHFR |
|
|
MHE »
[Lab info]
|
|
Microcephalia vera »
[Lab info]
|
|
Microcephalia vera »
[Lab info]
|
|
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes »
[Lab info]
|
|
Mitokondriell trifunktionell proteinbrist »
[Lab info]
|
|
Mitokondriell trifunktionell proteinbrist »
[Lab info]
|
|
MLD »
[Lab info]
|
|
Moebius sequence »
[Lab info]
|
|
Moebius syndrome »
[Lab info]
|
|
Mohrs syndrom (OFD II) »
[Lab info]
|
|
Monosomi 13q-syndromet »
13q |
|
|
Monosomi 18p-syndromet »
[Lab info]
|
|
Monosomi 18p-syndromet »
[Lab info]
|
|
Monosomi 18q-syndromet »
[Lab info]
|
|
Monosomi 18q-syndromet »
[Lab info]
|
|
Monosomi 4p-syndromet »
4p16.3 |
|
|
Monosomi 4q-syndromet »
[Lab info]
|
|
Monosomi 4q-syndromet »
[Lab info]
|
|
Monosomi 5p-syndromet »
5p15.2 |
|
|
Monosomi 9p-syndromet »
[Lab info]
|
|
Monosomi 9p-syndromet »
[Lab info]
|
|
MOP »
ACVR1 |
|
|
Morbus Gaucher »
GBA |
|
|
Morquios sjukdom »
[Lab info]
|
|
Moschcowitz sjukdom »
[Lab info]
|
|
Motorneuronsjukdom »
[Lab info]
|
|
Mowat-Wilsons sjukdom »
[Lab info]
|
|
Moyamoya »
[Lab info]
|
|
MPI-CDG »
[Lab info]
|
|
MPS I »
[Lab info]
|
|
MPS II »
IDS |
|
|
MPS III »
[Lab info]
|
|
MPS IV »
[Lab info]
|
|
MPS VI »
[Lab info]
|
|
MPS VII »
GUSB |
|
|
MPS VII »
[Lab info]
|
|
MSUD »
[Lab info]
|
|
MTHFR deficiency »
MTHFR |
|
|
MTP »
[Lab info]
|
|
MTP »
[Lab info]
|
|
Muckle-Wells syndrom »
[Lab info]
|
|
Mukopolysackaridos typ I »
[Lab info]
|
|
Mukopolysackaridos typ III »
[Lab info]
|
|
Mukopolysackaridos typ III »
[Lab info]
|
|
Mukopolysackaridos typ IV »
[Lab info]
|
|
Mukopolysackaridos typ VI »
[Lab info]
|
|
Mukopolysackaridos typ VII »
[Lab info]
|
|
Mukopolysackaridos-typ-VII »
GUSB |
|
|
Mukoviskoidos »
CFTR |
|
|
Multipel endokrin neoplasi typ 1 »
[Lab info]
|
|
Multipel endokrin neoplasi typ 2 »
[Lab info]
|
|
Multipel epifyseal dysplasi »
[Lab info]
|
|
multipla cartilaginära exostoser »
[Lab info]
|
|
multipla hereditära exostoser »
[Lab info]
|
|
multipla osteokondrom »
[Lab info]
|
|
MWS »
[Lab info]
|
|
Myelofibros »
JAK2 |
|
|
Myhres syndrom »
[Lab info]
|
|
Myoclonic epilepsy with ragged-red fibers »
[Lab info]
|
|
Myofibrillära myopatier »
[Lab info]
|
|
Myofosforylasbrist »
[Lab info]
|
|
Myoklonisk dystoni »
SGCE |
|
|
Myopathia distalis tarda hereditaria »
TIA1 |
|
|
Myopathy with exercise intolerance (Swedish type) »
[Lab info]
|
|
Myositis ossificans progressiva »
ACVR1 |
|
|
Myotonia congenita »
[Lab info]
|
|
Myotubulär myopati »
MTM1 |
|
|
Möbius syndrom »
[Lab info]
|
|
N |
|
Narkolepsi typ 2 »
[Lab info]
|
|
NARP »
[Lab info]
|
|
NBIA 1 »
PANK2 |
|
|
NDM »
[Lab info]
|
|
Nemalinmyopati »
[Lab info]
|
|
Neonatal diabetes mellitus »
[Lab info]
|
|
Neonatal herpes simplexencefalit »
[Lab info]
|
|
Nethertons syndrom »
[Lab info]
|
|
Neurodegeneration with brain iron accumulation 1 »
PANK2 |
|
|
Neurofibromatos typ 1 »
NF1 |
|
|
Neurofibromatos typ 2 »
NF2 |
|
|
Neuropathia ataxia retinitis pigmentosa »
[Lab info]
|
|
Neutropeni, kongenital »
ELA2 |
CSF3R |
|
|
NF1 »
NF1 |
|
|
NF2 »
NF2 |
|
|
Niemann-Picks sjukdom typ C »
[Lab info]
|
|
Niikawa-Kurokis syndrom »
[Lab info]
|
|
NKH »
AMT |
GLDC |
GCSH |
|
|
NMO-spektrumtillstånd »
[Lab info]
|
|
NOMID »
[Lab info]
|
|
Nonketotisk hyperglycinemi »
AMT |
GLDC |
GCSH |
|
|
Noonans syndrom »
NF1 |
PTPN11 |
|
|
Noonans syndrom med multipla lentigines »
[Lab info]
|
|
O |
|
OAVS »
[Lab info]
|
|
Obesitas »
MC4R |
|
|
OFD I och II »
[Lab info]
|
|
OI »
COL1A1 |
COL1A2 |
|
|
OIC »
COL1A1 |
COL1A2 |
|
|
Okulocerebrorenalt syndrom »
[Lab info]
|
|
Okänslighet för manligt könshormon »
AR |
|
|
Olliers sjukdom »
[Lab info]
|
|
ONH-syndromet »
[Lab info]
|
|
Oppenheims Dystoni - DYT1 »
DYT1 |
|
|
Opsoklonus-myoklonussyndromet »
[Lab info]
|
|
Optikushypoplasi »
[Lab info]
|
|
Ornitintranskarbamylasbrist »
OTC |
|
|
Orofaciodigitalt syndrom I och II »
[Lab info]
|
|
Oslers sjukdom »
[Lab info]
|
|
Osler-Weber-Rendus syndrom »
[Lab info]
|
|
Osteogenesis imperfecta »
COL1A1 |
COL1A2 |
|
|
Osteopetros »
[Lab info]
|
|
OTC brist »
OTC |
|
|
P |
|
Pachyonychia congenita »
[Lab info]
|
|
PAH »
[Lab info]
|
|
Pantotenatkinas-associerad neurodegeneration »
PANK2 |
|
|
Papillon Léage-Psaumes syndrom (OFD I) »
[Lab info]
|
|
Paramyotonia congenita »
[Lab info]
|
|
Paroxysmal nattlig hemoglobinuri »
[Lab info]
|
|
Paroxysmal nokturn hemoglobinuri »
[Lab info]
|
|
Partiell monosomi 1p36-syndromet »
1p36 |
|
|
Partiell trisomi 11/22 »
[Lab info]
|
|
PC »
[Lab info]
|
|
PCD »
[Lab info]
|
|
PDH brist »
[Lab info]
|
|
Pearsons syndrom »
[Lab info]
|
|
Pelizaeus-Merzbachers sjukdom »
PLP1 |
|
|
Pelletier-Leistis syndrom »
SRCAP |
|
|
Pemfigus vulgaris »
[Lab info]
|
|
Permanent neonatal diabetes mellitus »
[Lab info]
|
|
Peroxisomala biogenesdefekter »
PEX1 |
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Persisterande Müllerian duct syndrom (PMDS) »
[Lab info]
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Pfeiffers syndrom »
FGFR1 |
FGFR2 |
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Phelan McDermid syndrome »
[Lab info]
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Phelan-McDermids syndrom »
22q13 |
SHANK3 |
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Phenylketonuria »
PAH |
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Pigmentary orthocromatic leukodystrophy (POLD) »
CSF1R |
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PKAN »
PANK2 |
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PKU »
PAH |
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Pleoform iktyos »
[Lab info]
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PMD »
PLP1 |
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PNDM »
[Lab info]
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Polyarteritis nodosa »
[Lab info]
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Polycystisk njursjukdom (autosomal recessiv) »
PKHD1 |
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Polymyosit »
[Lab info]
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Pompes sjukdom »
GAA |
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Porfyri »
[Lab info]
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Potocki-Lupskis syndrom »
17p11.2 |
RAI1 |
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Prader-Willis syndrom »
SNRPN |
15q11-13 |
NECDIN |
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Primär binjurebarkssvikt »
[Lab info]
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Primär ciliär dyskinesi »
[Lab info]
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Primär karnitinbrist »
[Lab info]
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Primär lateral skleros »
[Lab info]
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Primär mikrocefali »
[Lab info]
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Primär mikrocefali och Seckels syndrom »
[Lab info]
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Primär renal tubulär hypokalemisk metabolisk alkalos »
[Lab info]
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Progressiv arteriell ocklusiv sjukdom »
[Lab info]
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Progressiv bulbär pares »
[Lab info]
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Progressiv extern oftalmoplegi »
[Lab info]
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Progressiv spinal muskelatrofi »
[Lab info]
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Propionsyrauri »
[Lab info]
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Propionyl-CoA carboxylase deficiency »
[Lab info]
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Prune belly-syndromet »
[Lab info]
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Pseudoakondroplasi »
COMP |
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Pseudobulbär pares »
[Lab info]
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Pseudohypoaldosteronism typ 1 »
[Lab info]
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Pseudovaginal perineoscrotal hypospadias »
SRD5A2 |
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Pseudoxanthoma elasticum »
[Lab info]
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PTLS »
17p11.2 |
RAI1 |
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Pulmonell arteriell hypertension och kronisk tromboembolisk pulmonell hypertension »
[Lab info]
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PWS »
SNRPN |
15q11-13 |
NECDIN |
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PXE »
[Lab info]
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Pyruvat dehydrogenas brist »
[Lab info]
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R |
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RAS-MAPK-syndromen »
NF1 |
PTPN11 |
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Rasmussens encefalit »
[Lab info]
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Rasmussens syndrom »
[Lab info]
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Refsums sjukdom »
[Lab info]
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Renal PHA1 (rPHA1) »
[Lab info]
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Retinoblastom »
MCM6 |
Lactase |
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Retinoblastom »
RB1 |
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Retinocerebellär angiomatos »
VHL |
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Retts syndrom »
MECP2 |
CDKL5 |
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Riegers anomali »
[Lab info]
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Ringkromosom 22-syndromet »
[Lab info]
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Rubinstein-Taybis syndrom »
16p13.3 |
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S |
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Saethre-Chotzen »
TWIST |
FGFR2 |
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Sallas sjukdom »
SLC17A5 |
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Sandhoffs sjukdom »
[Lab info]
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Sanfilippos sjukdom »
[Lab info]
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Sanfilippos sjukdom »
[Lab info]
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Sanfilippos sjukdom »
[Lab info]
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Santavuori-Haltias sjukdom »
[Lab info]
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SCA (1,2,3,6,7) »
ATXN1 |
ATXN2 |
ATXN3 |
CACNA1A |
ATXN7 |
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SCID »
[Lab info]
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SCKS »
[Lab info]
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SCN »
[Lab info]
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SDS »
SBDS |
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Seckels syndrom: SCKS »
[Lab info]
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Septo-optisk dysplasi »
[Lab info]
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Severe combined immunodeficiency »
[Lab info]
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Severe congenital neutropenia »
[Lab info]
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Severe congenital neutropenia (SCN) »
CSF3R |
ELA2 |
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Severe myoclonic epilepsy of infancy »
[Lab info]
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Shwachman-Bodian-Diamonds syndrom »
SBDS |
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Shwachmans syndrom »
SBDS |
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Sialic acid storage disorder »
SLC17A5 |
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Sialuria Finnish type »
SLC17A5 |
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SIASD »
SLC17A5 |
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Sicklecellsanemi »
HBB |
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Silver-Russells syndrom »
[Lab info]
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Sipples syndrom »
RET Oncogene |
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Sipples syndrom »
RET Oncogene |
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Sipples syndrom »
[Lab info]
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Sjögren-Larssons syndrom »
ALDH3A2 |
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Skelleftesjukan »
[Lab info]
|
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skulder-bäcken-muskeldystrofi »
[Lab info]
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SLS »
ALDH3A2 |
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Slys sjukdom »
[Lab info]
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Slys sjukdom »
GUSB |
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SMA (1,2,3) »
SMN1 |
NAIP |
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SMA 0, SMA I (Werdnig-Hoffmanns sjukdom) »
SMN1 |
NAIP |
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SMA II, SMA III (Kugelberg-Welanders sjukdom) »
SMN1 |
NAIP |
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SMA IV »
SMN1 |
NAIP |
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SMEI »
[Lab info]
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Smith-Lemli-Opitz syndrom »
DHCR7 |
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Smith-Magenis Syndrom »
17p11.2 |
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SMS »
17p11.2 |
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Sotos syndrom »
NSD1 |
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Spielmeyer-Vogts sjukdom »
CLN3 |
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Spielmeyer-Vogts sjukdom »
[Lab info]
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Spielmeyer-Vogts sjukdom »
CLN3 |
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Spinal Muskelatrofi (1,2,3) »
SMN1 |
NAIP |
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Spinobulbär muskelatrofi »
AR |
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Spinocerebellär ataxi (1,2,3,6,7) »
ATXN1 |
ATXN2 |
ATXN3 |
CACNA1A |
ATXN7 |
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Spondyloepifyseal dysplasi med sen debut »
[Lab info]
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Spondyloepiphyseal dysplasia congenita »
[Lab info]
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Spondyloepiphyseal dysplasia tarda »
[Lab info]
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SSADH-brist »
ALDH5A1 |
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STAT3-brist »
[Lab info]
|
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Steinerts sjukdom »
DMPK |
ZNF9 |
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Stiff person syndrome »
[Lab info]
|
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Strümpel-Lorrains syndrom »
[Lab info]
|
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Sturge-Weber-Dimitris syndrom »
[Lab info]
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Sturge-Webers syndrom »
[Lab info]
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Subakut nekrotiserande encefalomyelopati »
[Lab info]
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Succinatsemialdehyd-dehydrogenasbrist »
ALDH5A1 |
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Surdokardiellt syndrom »
[Lab info]
|
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Surdokardiellt syndrom »
KCNH2 |
KCNQ1 |
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Svår kombinerad immunbrist »
[Lab info]
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Svår medfödd neutropeni »
[Lab info]
|
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Systemic primary carnitine deficiency »
[Lab info]
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Systemisk mastocytos »
[Lab info]
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Systemisk multiinflammatorisk sjukdom med neonatal debut »
[Lab info]
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Systemisk PHA1 (sPHA1) »
[Lab info]
|
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Systemisk skleros »
[Lab info]
|
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T |
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Takayasus arterit »
[Lab info]
|
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TAR-syndromet »
RBM8A |
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Taruis sjukdom »
PFKM |
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Tay-Sachs sjukdom »
[Lab info]
|
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Testosteron 5-alfa-reduktas brist »
SRD5A2 |
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Tetrasomi 12p-syndromet »
[Lab info]
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TFP-brist »
[Lab info]
|
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Thomsens sjukdom »
[Lab info]
|
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Thoracic lymphangiomatosis »
[Lab info]
|
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Tibial muskeldystrofi »
[Lab info]
|
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Tidig form av retinitis pigmentosa »
[Lab info]
|
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TMD »
[Lab info]
|
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TNDM »
[Lab info]
|
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Transient neonatal diabetes mellitus »
[Lab info]
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Treacher Collins syndrom »
[Lab info]
|
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Trichorhinophalangeal syndrome »
[Lab info]
|
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Trifunktionell proteinbrist »
[Lab info]
|
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Trikorinofalangealt syndrom »
[Lab info]
|
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Trisomi 13-syndromet »
[Lab info]
|
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Trisomi 18-syndromet »
[Lab info]
|
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Trisomi 9-mosaiksyndromet »
[Lab info]
|
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Trombocytopenia-absent radiussyndromet »
RBM8A |
|
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Trombotisk trombocytopen purpura »
[Lab info]
|
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TRPS »
[Lab info]
|
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TSC »
TSC1 |
TSC2 |
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Tuberous sclerosis complex »
TSC1 |
TSC2 |
|
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Tuberös skleros »
TSC1 |
TSC2 |
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Tuberös skleroskomplexet »
TSC1 |
TSC2 |
|
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Tyrosinemi typ 1 »
FAH |
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U |
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Udd distal myopathy »
[Lab info]
|
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Upshaw-Schulman syndrom »
[Lab info]
|
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Ushers syndrom »
[Lab info]
|
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V |
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Vanishing bone disease »
[Lab info]
|
|
Variabel immunbrist »
[Lab info]
|
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VCFS »
22q11 |
TBX1 |
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Velokardiofacialt syndrom »
22q11 |
TBX1 |
|
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Vestibularisschwannomatos »
NF2 |
|
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Vitelliform makuladystrofi »
VMD2 |
|
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von Eulenbergs sjukdom »
SCN4A |
|
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von Hippel-Lindaus syndrom »
VHL |
|
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von Willebrands sjukdom (svår och medelsvår form) »
[Lab info]
|
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W |
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WAD »
EVC |
EVC2 |
|
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WAGR-syndromet »
[Lab info]
|
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Warts-hypogammaglobulinemia--infections-myelokathexis-Zuelzer-Krills syndrom »
[Lab info]
|
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WBS »
7q11.23 |
|
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Welanders distala myopati »
TIA1 |
|
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Wermers sjukdom »
[Lab info]
|
|
Wermers sjukdom »
MEN1 |
|
|
Weyers akrofaciala dysostos »
EVC |
EVC2 |
|
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WHIM »
[Lab info]
|
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WHIM-syndromet »
[Lab info]
|
|
Williams syndrom »
7q11.23 |
|
|
Williams-Beurens syndrom »
7q11.23 |
|
|
Wilms tumör »
[Lab info]
|
|
Wilsons sjukdom »
ATP7B |
|
|
Wiskott-Aldrichs syndrom »
[Lab info]
|
|
Wolf-Hirschhorns syndrom »
4p16.3 |
|
|
Wolf-Hirschhorns syndrom »
4p16.3 |
|
|
Wolframs syndrom »
[Lab info]
|
|
Wolfs syndrom »
4p16.3 |
|
|
X |
|
X-kromosombunden agammaglobulinemi »
BTK |
|
|
X-kromosombunden erytropoetisk protoporfyri »
[Lab info]
|
|
X-kromosombunden hypofosfatemisk rakit »
PHEX |
|
|
X-kromosombunden SBMA »
AR |
|
|
XL-EDMD »
[Lab info]
|
|
XLH »
PHEX |
|
|
Z |
|
Zellwegers syndrom »
PEX1 |
|
|
Ä |
|
Ärftlig ferrokelatasbrist »
[Lab info]
|
|
Ärftlig hörselnedsättning - DFNA3A »
GJB2 |
|
|
Ärftlig karnitinbrist »
[Lab info]
|
|
Ärftlig neuralgisk amyotrofi »
[Lab info]
|
|
Ärftlig skulderneurit »
[Lab info]
|
|
Ärftlig smärtokänslighet »
[Lab info]
|
|
Ärftlig transtyretinamyloidos »
[Lab info]
|
|
Ärftlig tryckkänslig neuropati »
[Lab info]
|
|
Ärftlig tryckkänslig neuropati »
PMP22 |
MPZ |
17p11.2 |
|
Början