CLN10
MCID: CRD182
MIFTS: 53

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 57 75 13
Neuronal Ceroid Lipofuscinosis Due to Cathepsin D Deficiency 57 12 53 25 75 73
Cln10 57 12 53 25 75
Neuronal Ceroid Lipofuscinosis 10 12 53 25 15
Cathepsin D Deficiency 12 53 25 59
Congenital Neuronal Ceroid Lipofuscinosis 25 59 75
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient 12 75
Ceroid Lipofuscinosis Neuronal 10 29 6
Cln10 Disease 25 59
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient 57
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient 53
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis 25
Neuronal Ceroid Lipofuscinosis, Congenital 73
Lipofuscinosis, Ceroid, Neuronal, Type 10 40
Cln10 Disease, Late Infantile 53
Cln10 Disease, Congenital 53
Cln10 Disease, Juvenile 53
Cln10 Disease, Adult 53
Congenital Ncl 59
Cathepsin D 13

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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 : 53 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 is Lysosome. 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 : 25 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 : 57 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 : 75 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 130)
# Related Disease Score Top Affiliating Genes
1 ceroid lipofuscinosis, neuronal, 1 28.9 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
2 neuronal ceroid lipofuscinosis 28.8 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
3 neuronal ceroid-lipofuscinoses 28.4 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
4 breast cancer 10.7
5 alzheimer disease 10.5
6 colorectal cancer 10.3
7 adenocarcinoma 10.3
8 ovarian cancer 10.3
9 squamous cell carcinoma 10.2
10 lymphopenia 10.2
11 bladder cancer 10.1
12 prostate cancer 10.1
13 gastric cancer 10.1
14 breast disease 10.1
15 lung cancer 10.0
16 melanoma 10.0
17 creutzfeldt-jakob disease 9.9
18 small cell cancer of the lung 9.9
19 endometrial cancer 9.9
20 microvascular complications of diabetes 5 9.9
21 breast cyst 9.9
22 dementia 9.9
23 endometrial adenocarcinoma 9.9
24 laryngeal squamous cell carcinoma 9.9
25 peptic ulcer disease 9.9
26 arteries, anomalies of 9.9
27 hepatocellular carcinoma 9.9
28 renal cell carcinoma, nonpapillary 9.9
29 neuroblastoma 9.9
30 squamous cell carcinoma, head and neck 9.9
31 aging 9.9
32 cervical cancer 9.9
33 ovarian cancer 1 9.9
34 lung cancer susceptibility 3 9.9
35 chronic kidney failure 9.9
36 coronary artery anomaly 9.9
37 adenoid cystic carcinoma 9.9
38 colon adenocarcinoma 9.9
39 gastric adenocarcinoma 9.9
40 kidney disease 9.9
41 adenoma 9.9
42 in situ carcinoma 9.9
43 amyloidosis 9.9
44 primary effusion lymphoma 9.9
45 adult neuronal ceroid lipofuscinosis 9.8 CLN6 DNAJC5
46 ceroid lipofuscinosis, neuronal, 13 9.7 CLN5 CLN8 DNAJC5
47 alzheimer disease 2 9.7
48 multiple system atrophy 1 9.7
49 inclusion body myositis 9.7
50 melanoma, uveal 9.7

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 10:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
3 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
4 low-set ears 32 HP:0000369
5 ataxia 32 HP:0001251
6 spasticity 32 HP:0001257
7 wide nasal bridge 32 HP:0000431
8 intellectual disability, severe 32 HP:0010864
9 abnormality of metabolism/homeostasis 32 HP:0001939
10 death in infancy 59 Very frequent (99-80%)
11 sensory axonal neuropathy 32 occasional (7.5%) HP:0003390
12 apnea 32 HP:0002104
13 intellectual disability, progressive 32 HP:0006887
14 rigidity 32 HP:0002063
15 status epilepticus 32 HP:0002133
16 visual loss 32 HP:0000572
17 respiratory failure 32 HP:0002878
18 mental deterioration 32 HP:0001268
19 rod-cone dystrophy 32 HP:0000510
20 cerebellar atrophy 32 HP:0001272
21 sloping forehead 32 HP:0000340
22 cerebral atrophy 32 HP:0002059
23 neuronal loss in central nervous system 32 HP:0002529
24 premature closure of fontanelles 32 HP:0005458
25 retinal atrophy 32 HP:0001105
26 increased neuronal autofluorescent lipopigment 32 HP:0002074

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 10:


seizures, ataxia, apnea, muscle rigidity, muscle spasticity

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.55 CLN3 CLN6 CLN8 CTSD DNAJC5
2 nervous system MP:0003631 9.43 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
3 vision/eye MP:0005391 9.1 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 10

Search Clinical Trials , 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 29 CTSD

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 10

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

41
Brain, Cerebellum, Cortex, Lung, Breast, Heart, Eye

Publications for Ceroid Lipofuscinosis, Neuronal, 10

Articles related to Ceroid Lipofuscinosis, Neuronal, 10:

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

75
# 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.685T> A (p.Phe229Ile) single nucleotide variant Pathogenic rs121912789 GRCh37 Chromosome 11, 1778573: 1778573
2 CTSD NM_001909.4(CTSD): c.685T> A (p.Phe229Ile) single nucleotide variant Pathogenic rs121912789 GRCh38 Chromosome 11, 1757343: 1757343
3 CTSD NM_001909.4(CTSD): c.1149G> C (p.Trp383Cys) single nucleotide variant Pathogenic rs121912790 GRCh37 Chromosome 11, 1774823: 1774823
4 CTSD NM_001909.4(CTSD): c.1149G> C (p.Trp383Cys) single nucleotide variant Pathogenic rs121912790 GRCh38 Chromosome 11, 1753593: 1753593
5 CTSD NM_001909.4(CTSD): c.764dupA (p.Tyr255Terfs) duplication Pathogenic rs786205105 GRCh37 Chromosome 11, 1776199: 1776199
6 CTSD NM_001909.4(CTSD): c.764dupA (p.Tyr255Terfs) duplication Pathogenic rs786205105 GRCh38 Chromosome 11, 1754969: 1754969
7 CTSD NM_001909.4(CTSD): c.470C> T (p.Ser157Leu) single nucleotide variant Pathogenic rs587779409 GRCh37 Chromosome 11, 1780200: 1780200
8 CTSD NM_001909.4(CTSD): c.470C> T (p.Ser157Leu) single nucleotide variant Pathogenic rs587779409 GRCh38 Chromosome 11, 1758970: 1758970
9 CTSD NM_001909.4: c.486-12G> A single nucleotide variant Pathogenic
10 CTSD NM_001909.4(CTSD): c.1072-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149019571 GRCh37 Chromosome 11, 1774907: 1774907
11 CTSD NM_001909.4(CTSD): c.1072-7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs149019571 GRCh38 Chromosome 11, 1753677: 1753677
12 CTSD NM_001909.4(CTSD): c.1215C> A (p.Gly405=) single nucleotide variant Conflicting interpretations of pathogenicity rs138733377 GRCh37 Chromosome 11, 1774757: 1774757
13 CTSD NM_001909.4(CTSD): c.1215C> A (p.Gly405=) single nucleotide variant Conflicting interpretations of pathogenicity rs138733377 GRCh38 Chromosome 11, 1753527: 1753527
14 CTSD NM_001909.4(CTSD): c.173C> T (p.Ala58Val) single nucleotide variant Benign/Likely benign rs17571 GRCh37 Chromosome 11, 1782594: 1782594
15 CTSD NM_001909.4(CTSD): c.173C> T (p.Ala58Val) single nucleotide variant Benign/Likely benign rs17571 GRCh38 Chromosome 11, 1761364: 1761364
16 CTSD NM_001909.4(CTSD): c.189C> T (p.Thr63=) single nucleotide variant Benign/Likely benign rs114051835 GRCh37 Chromosome 11, 1782578: 1782578
17 CTSD NM_001909.4(CTSD): c.189C> T (p.Thr63=) single nucleotide variant Benign/Likely benign rs114051835 GRCh38 Chromosome 11, 1761348: 1761348
18 CTSD NM_001909.4(CTSD): c.231C> T (p.Ala77=) single nucleotide variant Benign/Likely benign rs2230067 GRCh37 Chromosome 11, 1780867: 1780867
19 CTSD NM_001909.4(CTSD): c.231C> T (p.Ala77=) single nucleotide variant Benign/Likely benign rs2230067 GRCh38 Chromosome 11, 1759637: 1759637
20 CTSD NM_001909.4(CTSD): c.465T> C (p.Thr155=) single nucleotide variant Benign/Likely benign rs11555039 GRCh37 Chromosome 11, 1780205: 1780205
21 CTSD NM_001909.4(CTSD): c.465T> C (p.Thr155=) single nucleotide variant Benign/Likely benign rs11555039 GRCh38 Chromosome 11, 1758975: 1758975
22 CTSD NM_001909.4(CTSD): c.844G> A (p.Gly282Arg) single nucleotide variant Benign/Likely benign rs147278302 GRCh37 Chromosome 11, 1775352: 1775352
23 CTSD NM_001909.4(CTSD): c.844G> A (p.Gly282Arg) single nucleotide variant Benign/Likely benign rs147278302 GRCh38 Chromosome 11, 1754122: 1754122
24 CTSD NM_001909.4(CTSD): c.353-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141523461 GRCh38 Chromosome 11, 1759099: 1759099
25 CTSD NM_001909.4(CTSD): c.353-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs141523461 GRCh37 Chromosome 11, 1780329: 1780329
26 CTSD NM_001909.4(CTSD): c.639C> G (p.Pro213=) single nucleotide variant Conflicting interpretations of pathogenicity rs146073498 GRCh38 Chromosome 11, 1757389: 1757389
27 CTSD NM_001909.4(CTSD): c.639C> G (p.Pro213=) single nucleotide variant Conflicting interpretations of pathogenicity rs146073498 GRCh37 Chromosome 11, 1778619: 1778619
28 CTSD NM_001909.4(CTSD): c.827+13T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369602025 GRCh38 Chromosome 11, 1754893: 1754893
29 CTSD NM_001909.4(CTSD): c.827+13T> C single nucleotide variant Conflicting interpretations of pathogenicity rs369602025 GRCh37 Chromosome 11, 1776123: 1776123
30 CTSD NM_001909.4(CTSD): c.446G> T (p.Gly149Val) single nucleotide variant Pathogenic rs797045137 GRCh38 Chromosome 11, 1758994: 1758994
31 CTSD NM_001909.4(CTSD): c.446G> T (p.Gly149Val) single nucleotide variant Pathogenic rs797045137 GRCh37 Chromosome 11, 1780224: 1780224
32 CTSD NM_001909.4(CTSD): c.1196G> A (p.Arg399His) single nucleotide variant Pathogenic rs797045138 GRCh37 Chromosome 11, 1774776: 1774776
33 CTSD NM_001909.4(CTSD): c.1196G> A (p.Arg399His) single nucleotide variant Pathogenic rs797045138 GRCh38 Chromosome 11, 1753546: 1753546
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 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 9.46 CLN3 CLN5 CLN6 CLN8
2 synaptic vesicle GO:0008021 9.32 CLN3 DNAJC5
3 melanosome GO:0042470 9.26 CTSD DNAJC5
4 lysosome GO:0005764 9.13 CLN3 CLN5 CTSD
5 lysosomal membrane GO:0005765 8.8 CLN3 CLN5 DNAJC5

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.48 CLN3 DNAJC5
2 cholesterol metabolic process GO:0008203 9.46 CLN6 CLN8
3 neuromuscular process controlling balance GO:0050885 9.43 CLN3 CLN8
4 associative learning GO:0008306 9.4 CLN3 CLN8
5 negative regulation of proteolysis GO:0045861 9.37 CLN3 CLN8
6 lysosome organization GO:0007040 9.33 CLN3 CLN6 CLN8
7 ceramide metabolic process GO:0006672 9.32 CLN3 CLN8
8 cellular macromolecule catabolic process GO:0044265 9.26 CLN6 CLN8
9 lysosomal lumen acidification GO:0007042 9.13 CLN3 CLN5 CLN6
10 protein catabolic process GO:0030163 9.02 CLN3 CLN5 CLN6 CLN8 CTSD

Sources for Ceroid Lipofuscinosis, Neuronal, 10

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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