CLN10
MCID: CRD182
MIFTS: 47

Ceroid Lipofuscinosis, Neuronal, 10 (CLN10)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 10

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 10:

Name: Ceroid Lipofuscinosis, Neuronal, 10 58 76 13
Neuronal Ceroid Lipofuscinosis Due to Cathepsin D Deficiency 58 12 54 26 76 74
Cathepsin D Deficiency 12 54 26 60 38
Cln10 58 12 54 26 76
Neuronal Ceroid Lipofuscinosis 10 12 54 26 15
Congenital Neuronal Ceroid Lipofuscinosis 26 60 76
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient 12 76
Ceroid Lipofuscinosis Neuronal 10 30 6
Cln10 Disease 26 60
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient 58
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient 54
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis 26
Neuronal Ceroid Lipofuscinosis, Congenital 74
Lipofuscinosis, Ceroid, Neuronal, Type 10 41
Cln10 Disease, Late Infantile 54
Cln10 Disease, Congenital 54
Cln10 Disease, Juvenile 54
Cln10 Disease, Adult 54
Congenital Ncl 60
Cathepsin D 13

Characteristics:

Orphanet epidemiological data:

60
congenital neuronal ceroid lipofuscinosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
cln10 disease
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (range birth to teenage years)
patients with null mutations in (ctsd) show a more severe phenotype with onset at birth ('congenital ncl') and early death within days


HPO:

33
ceroid lipofuscinosis, neuronal, 10:
Mortality/Aging death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ceroid Lipofuscinosis, Neuronal, 10

NIH Rare Diseases : 54 Neuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs and symptoms of CLN10 usually appear soon after birth. They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus). Infants with CLN10 disease have a small brain and small head (microcephaly). They also have problems controlling their movements. The areas of the brain involved in thinking and emotions are also severely affected. Sadly, infants with CLN10 disease often do not survive longer than hours or weeks after birth. In some cases, people with CLN10 disease do not develop symptoms until later in infancy, childhood, or adulthood. Symptoms in these cases may be more gradual and include ataxia, loss of speech and vision, and problems with memory and thinking (cognitive impairment). The lifespan of people diagnosed after early infancy is also shortened, but varies based on when their symptoms began. CLN10 disease is caused by changes (mutations) in the CTSD gene and inheritance is autosomal recessive. If the disease-causing genetic change completely prevents the CLN10 protein (cathepsin D) from being made, the infant will be born with the severe type. If however, some working CLN2 protein is made, the person will develop either the late infantile, juvenile, or adult type. At this time, there are no effective treatment options for CLN10 disease. Therefore, therapy is aimed at easing symptoms and improving quality of life (palliative care).Please note: Batten disease originally referred specifically to the juvenile and most common form of NCL, now known as CLN3. However, the term Batten disease is increasingly used to describe all forms of NCL. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 10, also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency, is related to ceroid lipofuscinosis, neuronal, 1 and neuronal ceroid lipofuscinosis, and has symptoms including seizures, ataxia and apnea. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 10 is CTSD (Cathepsin D), and among its related pathways/superpathways are Lysosome and Apoptosis. Affiliated tissues include brain, cerebellum and cortex, and related phenotypes are seizures and respiratory insufficiency

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that has material basis in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.

Genetics Home Reference : 26 CLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus). It is likely that some affected individuals also have seizures before birth while in the womb. Infants with CLN10 disease have unusually small heads (microcephaly) with brains that may be less than half the normal size. There is a loss of brain cells in areas that coordinate movement (the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve cells in the brain also lack a fatty substance called myelin, which protects them and promotes efficient transmission of nerve impulses. Infants with CLN10 disease often die hours to weeks after birth.

OMIM : 58 The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730). (610127)

UniProtKB/Swiss-Prot : 76 Ceroid lipofuscinosis, neuronal, 10: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy.

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 10

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 150)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 28.5 CLN3 CLN5 CLN6 CLN8 CTSD
2 neuronal ceroid lipofuscinosis 28.5 CLN3 CLN5 CLN6 CLN8 CTSD
3 neuronal ceroid-lipofuscinoses 28.1 CLN3 CLN5 CLN6 CLN8 CTSD
4 breast cancer 10.8
5 alzheimer disease 10.5
6 colorectal cancer 10.3
7 adenocarcinoma 10.3
8 ovarian cancer 10.3
9 squamous cell carcinoma 10.3
10 lymphopenia 10.2
11 bladder cancer 10.1
12 prostate cancer 10.1
13 prostate cancer, hereditary, 8 10.1
14 prostate cancer, hereditary, 6 10.1
15 gastric cancer 10.1
16 melanoma 10.1
17 breast disease 10.1
18 lung cancer 10.0
19 endometrial cancer 10.0
20 creutzfeldt-jakob disease 10.0
21 small cell cancer of the lung 10.0
22 microvascular complications of diabetes 5 10.0
23 breast cyst 10.0
24 dementia 10.0
25 endometrial adenocarcinoma 10.0
26 laryngeal squamous cell carcinoma 10.0
27 peptic ulcer disease 10.0
28 sulfite oxidase deficiency due to molybdenum cofactor deficiency 10.0
29 arteries, anomalies of 9.9
30 hepatocellular carcinoma 9.9
31 renal cell carcinoma, nonpapillary 9.9
32 neuroblastoma 9.9
33 squamous cell carcinoma, head and neck 9.9
34 aging 9.9
35 cervical cancer 9.9
36 ovarian cancer 1 9.9
37 lung cancer susceptibility 3 9.9
38 chronic kidney failure 9.9
39 coronary artery anomaly 9.9
40 oral squamous cell carcinoma 9.9
41 lymphoma 9.9
42 adenoid cystic carcinoma 9.9
43 cholera 9.9
44 colon adenocarcinoma 9.9
45 gastric adenocarcinoma 9.9
46 kidney disease 9.9
47 adenoma 9.9
48 in situ carcinoma 9.9
49 amyloidosis 9.9
50 rere-related disorders 9.9

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 10:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 10

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 10

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 10:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
3 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
4 sensory axonal neuropathy 33 occasional (7.5%) HP:0003390
5 low-set ears 33 HP:0000369
6 ataxia 33 HP:0001251
7 spasticity 33 HP:0001257
8 wide nasal bridge 33 HP:0000431
9 intellectual disability, severe 33 HP:0010864
10 abnormality of metabolism/homeostasis 33 HP:0001939
11 death in infancy 60 Very frequent (99-80%)
12 apnea 33 HP:0002104
13 intellectual disability, progressive 33 HP:0006887
14 rigidity 33 HP:0002063
15 status epilepticus 33 HP:0002133
16 visual loss 33 HP:0000572
17 respiratory failure 33 HP:0002878
18 mental deterioration 33 HP:0001268
19 rod-cone dystrophy 33 HP:0000510
20 cerebellar atrophy 33 HP:0001272
21 sloping forehead 33 HP:0000340
22 cerebral atrophy 33 HP:0002059
23 neuronal loss in central nervous system 33 HP:0002529
24 premature closure of fontanelles 33 HP:0005458
25 retinal atrophy 33 HP:0001105
26 increased neuronal autofluorescent lipopigment 33 HP:0002074

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears

Head And Neck Head:
microcephaly

Head And Neck Face:
sloping forehead

Head And Neck Nose:
broad nasal bridge

Muscle Soft Tissue:
muscle biopsy shows angular atrophic fibers with granulovacuolar material (in some patients)
intracellular granular osmiophilic deposits

Laboratory Abnormalities:
decrease or absence of cathepsin d (ctsd) protein immunostaining

Neurologic Central Nervous System:
seizures
ataxia
spasticity
rigidity
status epilepticus
more
Respiratory:
apnea
respiratory failure

Head And Neck Eyes:
retinal atrophy
retinitis pigmentosa
loss of vision, progressive

Skeletal Skull:
overriding sutures
obliterated fontanelles

Neurologic Peripheral Nervous System:
axonal sensory neuropathy (in some patients)

Clinical features from OMIM:

610127

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 10:


seizures, ataxia, apnea, muscle rigidity, muscle spasticity

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 10:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.35 CLN3 CLN5 CLN6 CLN8 CTSD
2 vision/eye MP:0005391 9.02 CLN3 CLN5 CLN6 CLN8 CTSD

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 10

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Neuropsychological Investigations in Batten Disease Recruiting NCT01873924

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 10

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 10

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 10:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis Neuronal 10 30 CTSD

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 10

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 10:

42
Brain, Cerebellum, Cortex, Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 10

Articles related to Ceroid Lipofuscinosis, Neuronal, 10:

# Title Authors Year
1
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology. ( 25298308 )
2014
2
Murine cathepsin D deficiency is associated with dysmyelination/myelin disruption and accumulation of cholesteryl esters in the brain. ( 19845830 )
2010
3
Cathepsin D deficiency induces persistent neurodegeneration in the absence of Bax-dependent apoptosis. ( 17314303 )
2007
4
Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis. ( 17495518 )
2007
5
Cathepsin D deficiency underlies congenital human neuronal ceroid- lipofuscinosis. ( 16670177 )
2006
6
Cathepsin D deficiency is associated with a human neurodegenerative disorder. ( 16685649 )
2006
7
Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme. ( 11589006 )
2001
8
Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. ( 10995834 )
2000

Variations for Ceroid Lipofuscinosis, Neuronal, 10

UniProtKB/Swiss-Prot genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 10:

76
# Symbol AA change Variation ID SNP ID
1 CTSD p.Phe229Ile VAR_029362 rs121912789
2 CTSD p.Trp383Cys VAR_029363 rs121912790

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 10:

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTSD NM_001909.4(CTSD): c.446G> T (p.Gly149Val) single nucleotide variant Pathogenic rs797045137 GRCh38 Chromosome 11, 1758994: 1758994
2 CTSD NM_001909.4(CTSD): c.446G> T (p.Gly149Val) single nucleotide variant Pathogenic rs797045137 GRCh37 Chromosome 11, 1780224: 1780224
3 CTSD NM_001909.4(CTSD): c.1196G> A (p.Arg399His) single nucleotide variant Pathogenic rs797045138 GRCh37 Chromosome 11, 1774776: 1774776
4 CTSD NM_001909.4(CTSD): c.1196G> A (p.Arg399His) single nucleotide variant Pathogenic rs797045138 GRCh38 Chromosome 11, 1753546: 1753546
5 CTSD NM_001909.4(CTSD): c.685T> A (p.Phe229Ile) single nucleotide variant Pathogenic rs121912789 GRCh37 Chromosome 11, 1778573: 1778573
6 CTSD NM_001909.4(CTSD): c.685T> A (p.Phe229Ile) single nucleotide variant Pathogenic rs121912789 GRCh38 Chromosome 11, 1757343: 1757343
7 CTSD NM_001909.4(CTSD): c.1149G> C (p.Trp383Cys) single nucleotide variant Pathogenic rs121912790 GRCh37 Chromosome 11, 1774823: 1774823
8 CTSD NM_001909.4(CTSD): c.1149G> C (p.Trp383Cys) single nucleotide variant Pathogenic rs121912790 GRCh38 Chromosome 11, 1753593: 1753593
9 CTSD NM_001909.4(CTSD): c.764dupA (p.Tyr255Terfs) duplication Pathogenic rs786205105 GRCh37 Chromosome 11, 1776199: 1776199
10 CTSD NM_001909.4(CTSD): c.764dupA (p.Tyr255Terfs) duplication Pathogenic rs786205105 GRCh38 Chromosome 11, 1754969: 1754969
11 CTSD NM_001909.4(CTSD): c.470C> T (p.Ser157Leu) single nucleotide variant Pathogenic rs587779409 GRCh37 Chromosome 11, 1780200: 1780200
12 CTSD NM_001909.4(CTSD): c.470C> T (p.Ser157Leu) single nucleotide variant Pathogenic rs587779409 GRCh38 Chromosome 11, 1758970: 1758970
13 CTSD NM_001909.4: c.486-12G> A single nucleotide variant Pathogenic
14 CTSD NM_001909.4(CTSD): c.1072-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149019571 GRCh37 Chromosome 11, 1774907: 1774907
15 CTSD NM_001909.4(CTSD): c.1072-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149019571 GRCh38 Chromosome 11, 1753677: 1753677
16 CTSD NM_001909.4(CTSD): c.1215C> A (p.Gly405=) single nucleotide variant Conflicting interpretations of pathogenicity rs138733377 GRCh37 Chromosome 11, 1774757: 1774757
17 CTSD NM_001909.4(CTSD): c.1215C> A (p.Gly405=) single nucleotide variant Conflicting interpretations of pathogenicity rs138733377 GRCh38 Chromosome 11, 1753527: 1753527
18 CTSD NM_001909.4(CTSD): c.173C> T (p.Ala58Val) single nucleotide variant Benign/Likely benign rs17571 GRCh37 Chromosome 11, 1782594: 1782594
19 CTSD NM_001909.4(CTSD): c.173C> T (p.Ala58Val) single nucleotide variant Benign/Likely benign rs17571 GRCh38 Chromosome 11, 1761364: 1761364
20 CTSD NM_001909.4(CTSD): c.189C> T (p.Thr63=) single nucleotide variant Benign/Likely benign rs114051835 GRCh37 Chromosome 11, 1782578: 1782578
21 CTSD NM_001909.4(CTSD): c.189C> T (p.Thr63=) single nucleotide variant Benign/Likely benign rs114051835 GRCh38 Chromosome 11, 1761348: 1761348
22 CTSD NM_001909.4(CTSD): c.231C> T (p.Ala77=) single nucleotide variant Benign/Likely benign rs2230067 GRCh37 Chromosome 11, 1780867: 1780867
23 CTSD NM_001909.4(CTSD): c.231C> T (p.Ala77=) single nucleotide variant Benign/Likely benign rs2230067 GRCh38 Chromosome 11, 1759637: 1759637
24 CTSD NM_001909.4(CTSD): c.465T> C (p.Thr155=) single nucleotide variant Benign/Likely benign rs11555039 GRCh37 Chromosome 11, 1780205: 1780205
25 CTSD NM_001909.4(CTSD): c.465T> C (p.Thr155=) single nucleotide variant Benign/Likely benign rs11555039 GRCh38 Chromosome 11, 1758975: 1758975
26 CTSD NM_001909.4(CTSD): c.844G> A (p.Gly282Arg) single nucleotide variant Benign/Likely benign rs147278302 GRCh37 Chromosome 11, 1775352: 1775352
27 CTSD NM_001909.4(CTSD): c.844G> A (p.Gly282Arg) single nucleotide variant Benign/Likely benign rs147278302 GRCh38 Chromosome 11, 1754122: 1754122
28 CTSD NM_001909.4(CTSD): c.353-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141523461 GRCh38 Chromosome 11, 1759099: 1759099
29 CTSD NM_001909.4(CTSD): c.353-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141523461 GRCh37 Chromosome 11, 1780329: 1780329
30 CTSD NM_001909.4(CTSD): c.639C> G (p.Pro213=) single nucleotide variant Conflicting interpretations of pathogenicity rs146073498 GRCh38 Chromosome 11, 1757389: 1757389
31 CTSD NM_001909.4(CTSD): c.639C> G (p.Pro213=) single nucleotide variant Conflicting interpretations of pathogenicity rs146073498 GRCh37 Chromosome 11, 1778619: 1778619
32 CTSD NM_001909.4(CTSD): c.827+13T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369602025 GRCh38 Chromosome 11, 1754893: 1754893
33 CTSD NM_001909.4(CTSD): c.827+13T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369602025 GRCh37 Chromosome 11, 1776123: 1776123
34 CTSD NM_001909.4(CTSD): c.828-17G> A single nucleotide variant Benign rs78735768 GRCh37 Chromosome 11, 1775385: 1775385
35 CTSD NM_001909.4(CTSD): c.828-17G> A single nucleotide variant Benign rs78735768 GRCh38 Chromosome 11, 1754155: 1754155
36 CTSD NM_001909.4(CTSD): c.686_688delTCT (p.Phe229del) deletion Likely pathogenic rs1057519591 GRCh37 Chromosome 11, 1778570: 1778572
37 CTSD NM_001909.4(CTSD): c.686_688delTCT (p.Phe229del) deletion Likely pathogenic rs1057519591 GRCh38 Chromosome 11, 1757340: 1757342

Expression for Ceroid Lipofuscinosis, Neuronal, 10

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 10.

Pathways for Ceroid Lipofuscinosis, Neuronal, 10

Pathways related to Ceroid Lipofuscinosis, Neuronal, 10 according to KEGG:

38
# Name Kegg Source Accession
1 Lysosome hsa04142
2 Apoptosis hsa04210
3 Autophagy - animal hsa04140

Pathways related to Ceroid Lipofuscinosis, Neuronal, 10 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 CLN3 CLN5 CTSD

GO Terms for Ceroid Lipofuscinosis, Neuronal, 10

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 CLN3 CLN5 CLN6 CLN8
2 membrane raft GO:0045121 9.16 CLN3 CTSD
3 lysosome GO:0005764 8.8 CLN3 CLN5 CTSD

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 10 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol metabolic process GO:0008203 9.46 CLN6 CLN8
2 negative regulation of proteolysis GO:0045861 9.37 CLN3 CLN8
3 ceramide metabolic process GO:0006672 9.32 CLN3 CLN8
4 visual perception GO:0007601 9.18 CLN6
5 lysosome organization GO:0007040 9.16 CLN3 CLN6
6 neuromuscular process controlling balance GO:0050885 9.13 CLN3
7 lysosomal lumen acidification GO:0007042 9.13 CLN3 CLN5 CLN6
8 associative learning GO:0008306 9.1 CLN3
9 protein catabolic process GO:0030163 9.02 CLN3 CLN5 CLN6 CLN8 CTSD
10 cellular macromolecule catabolic process GO:0044265 8.96 CLN6

Sources for Ceroid Lipofuscinosis, Neuronal, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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