Skip to main content
Log in
Sciensano
Support
Belgian Genetic Tests database
Toggle navigation
Main navigation
Home
Genetic tests
Analytes
Diseases
Labs
Guide
Contact
Diseases
20
50
100
Search
Reset
Name
Orphanumber
Description
XREF(s)
Adenylosuccinate lyase deficiency
46
A disorder of purine metabolism…
Orphanet
,
ICD-10
,
OMIM
,
MeSH
Adenylosuccinate synthetase-like 1-related distal myopathy
482601
A rare autosomal recessive distal…
Orphanet
,
OMIM
,
ICD-10
ADNP syndrome
404448
A rare syndromic intellectual…
Orphanet
,
ICD-10
,
OMIM
Adrenocortical carcinoma
1501
A rare cancer that arises from the…
Orphanet
,
OMIM
,
MeSH
,
ICD-10
,
MedDRA
Adrenomyeloneuropathy
139399
A form of the peroxisomal disease X-…
Orphanet
,
ICD-10
,
OMIM
Adult hepatocellular carcinoma
210159
A rare carcinoma of the liver…
Orphanet
,
OMIM
,
ICD-10
Adult hypophosphatasia
247676
A moderate form of hypophosphatasia (…
Orphanet
,
ICD-10
,
OMIM
Adult Krabbe disease
206448
Orphanet
,
ICD-10
Adult polyglucosan body disease
206583
A glycogen storage disease of adults…
Orphanet
,
ICD-10
,
OMIM
ADULT syndrome
978
A rare ectodermal dysplasia syndrome…
Orphanet
,
MeSH
,
ICD-10
,
OMIM
Adult-onset autosomal dominant leukodystrophy
99027
A rare, slowly progressive neurological…
Orphanet
,
ICD-10
,
OMIM
Adult-onset autosomal recessive sideroblastic anemia
255132
A very rare non-syndromic autosomal…
Orphanet
,
OMIM
,
ICD-10
Adult-onset autosomal recessive cerebellar ataxia
284289
A rare, genetic, autosomal recessive…
Orphanet
,
ICD-10
,
OMIM
Adult-onset cervical dystonia, DYT23 type
420492
A rare, genetic, isolated dystonia…
Orphanet
,
ICD-10
,
OMIM
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
329336
A rare mitochondrial disease…
Orphanet
,
ICD-10
,
OMIM
Adult-onset citrullinemia type I
247573
A form of citrullinemia type I…
Orphanet
Adult-onset distal myopathy due to VCP mutation
329478
A rare, genetic distal myopathy…
Orphanet
Adult-onset dystonia-parkinsonism
199351
A rare neurodegenerative disease…
Orphanet
,
OMIM
,
ICD-10
Adult-onset foveomacular vitelliform dystrophy
99000
A rare, genetic, macular dystrophy…
Orphanet
,
ICD-10
,
OMIM
,
OMIM
,
OMIM
,
OMIM
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
329314
An extremely rare multiple…
Orphanet
,
ICD-10
,
OMIM
Pagination
First page
« First
Previous page
‹ Previous
Page
5
Page
6
Page
7
Page
8
Current page
9
Page
10
Page
11
Page
12
Page
13
Next page
Next ›
Last page
Last »
Download XLSX
Download PDF
Did not find what you were looking for? Contact us through the support center.
Read more