MCID: SJG002
MIFTS: 51

Sjogren-Larsson Syndrome

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

Aliases & Classifications for Sjogren-Larsson Syndrome

MalaCards integrated aliases for Sjogren-Larsson Syndrome:

Name: Sjogren-Larsson Syndrome 54 38 12 50 24 25 13 52 42 14 69 50 25 56 29
Sls 50 25 71
Fatty Aldehyde Dehydrogenase Deficiency 50 25
Sjogren Larsson Syndrome 12 50
Faldh Deficiency 50 25
Congenital Icthyosis Mental Retardation Spasticity Syndrome 25
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia 50
Fatty Acid Alcohol Oxidoreductase Deficiency 56
Ichthyosis Oligophrenia Syndrome 25
Sjogren-Larsson's Syndrome 12
Sjoegren-Larsson Syndrome 71
Fadh Deficiency 50
Fao Deficiency 50

Characteristics:

Orphanet epidemiological data:

56
sjögren-larsson syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset of neurologic symptoms often by 30 months
prevalent in sweden


HPO:

32
sjogren-larsson syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Sjogren-Larsson Syndrome

UniProtKB/Swiss-Prot : 71 Sjoegren-Larsson syndrome: An autosomal recessive neurocutaneous disorder characterized by a combination of severe mental retardation, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects.

MalaCards based summary : Sjogren-Larsson Syndrome, also known as sls, is related to ichthyosis alopecia eclabion ectropion mental retardation and spondylometaepiphyseal dysplasia, short limb-hand type, and has symptoms including short stature, scoliosis and dysarthria. An important gene associated with Sjogren-Larsson Syndrome is ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2), and among its related pathways/superpathways is Glycerophospholipid biosynthesis. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include skin, retina and eye, and related phenotypes are behavior/neurological and integument

NIH Rare Diseases : 50 sjogren-larsson syndrome (sls) is an inborn error of lipid metabolism, characterized by congenital ichthyosis (dry, scaly skin), intellectual disability, and spasticity (stiffness and involuntary muscle spasms).  the syndrome is caused by mutations in the gene called fadh (fatty aldehyde dehydrogenase) and is inherited in an autosomal recessive fashion. treatment is symptomatic. last updated: 9/21/2012

OMIM : 54
Sjogren-Larsson syndrome is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). (270200)

Wikipedia : 72 Sjögren–Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at birth.... more...

Related Diseases for Sjogren-Larsson Syndrome

Graphical network of the top 20 diseases related to Sjogren-Larsson Syndrome:



Diseases related to Sjogren-Larsson Syndrome

Symptoms & Phenotypes for Sjogren-Larsson Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Eyes:
macular degeneration
photophobia
glistening white dots in fundus
superficial corneal opacities
upper eyelid ichthyosis
more
Head And Neck- Teeth:
enamel hypoplasia

Skeletal- Spine:
thoracic kyphosis

Skeletal- Feet:
sole thickening

Laboratory- Abnormalities:
fatty alcohol:nad+ oxidoreductase deficiency in leukocytes and fibroblasts

Neurologic- Central Nervous System:
mental retardation
spasticity
seizures
demyelination in central white matter

Skin Nails & Hair- Nails:
normal nails

Skin Nails & Hair- Hair:
normal hair

Skeletal- Hands:
palm thickening

Skin Nails & Hair- Skin:
pruritic ichthyosis (onset birth to first several months)


Clinical features from OMIM:

270200

Human phenotypes related to Sjogren-Larsson Syndrome:

56 32 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 dysarthria 56 32 frequent (33%) Frequent (79-30%) HP:0001260
4 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
5 spasticity 56 32 Very frequent (99-80%) HP:0001257
6 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
7 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 kyphosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002808
9 macular degeneration 56 32 frequent (33%) Frequent (79-30%) HP:0000608
10 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
11 photophobia 56 32 frequent (33%) Frequent (79-30%) HP:0000613
12 hyperkeratosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000962
13 ichthyosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008064
14 dry skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000958
15 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
16 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
17 spastic diplegia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001264
18 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
19 retinopathy 56 32 frequent (33%) Frequent (79-30%) HP:0000488
20 erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0010783
21 urticaria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001025
22 abnormal pyramidal signs 56 32 hallmark (90%) Very frequent (99-80%) HP:0007256
23 abnormality of retinal pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007703
24 corneal erosion 56 32 frequent (33%) Frequent (79-30%) HP:0200020
25 abnormality of dental enamel 56 32 occasional (7.5%) Occasional (29-5%) HP:0000682
26 inflammatory abnormality of the eye 56 32 frequent (33%) Frequent (79-30%) HP:0100533
27 generalized hyperpigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007440
28 thoracic kyphosis 32 HP:0002942
29 neurological speech impairment 56 Frequent (79-30%)
30 hypoplasia of dental enamel 32 HP:0006297
31 cns demyelination 32 HP:0007305
32 opacification of the corneal epithelium 32 HP:0007727

UMLS symptoms related to Sjogren-Larsson Syndrome:


muscle spasticity, seizures, photophobia

MGI Mouse Phenotypes related to Sjogren-Larsson Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 PNPLA6 SKAP2 ABHD12 ALDH3A2 FA2H LPIN1
2 integument MP:0010771 9.26 ALDH3A2 FA2H LPIN1 PNPLA6
3 nervous system MP:0003631 9.02 ABHD12 ALDH3A2 FA2H LPIN1 PNPLA6

Drugs & Therapeutics for Sjogren-Larsson Syndrome

Drugs for Sjogren-Larsson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 A Study of Topical NS2 Cream to Treat Ichthyosis in Sjögren-Larsson Syndrome (SLS) Completed NCT02402309 Phase 2 Active topical NS2 1% dermatologic cream;Vehicle placebo 0.0% NS2 dermatologic cream
2 Sjogren-Larsson Syndrome: Natural History, Clinical Variation and Evaluation of Biochemical Markers Unknown status NCT01971957

Search NIH Clinical Center for Sjogren-Larsson Syndrome

Cochrane evidence based reviews: sjogren-larsson syndrome

Genetic Tests for Sjogren-Larsson Syndrome

Genetic tests related to Sjogren-Larsson Syndrome:

id Genetic test Affiliating Genes
1 Sjögren-Larsson Syndrome 29
2 Sjogren-Larsson Syndrome 24 ALDH3A2

Anatomical Context for Sjogren-Larsson Syndrome

MalaCards organs/tissues related to Sjogren-Larsson Syndrome:

39
Skin, Retina, Eye

Publications for Sjogren-Larsson Syndrome

Articles related to Sjogren-Larsson Syndrome:

(show all 30)
id Title Authors Year
1
OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME. ( 28301413 )
2017
2
Sjogren-Larsson syndrome: A rare neurocutaneous disorder. ( 27195039 )
2016
3
A rare case of Sjogren-Larsson syndrome with recurrent pneumonia and asthma. ( 27462357 )
2016
4
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. ( 28471629 )
2016
5
Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. ( 23034980 )
2013
6
The Sjogren-Larsson syndrome gene encodes a hexadecenal dehydrogenase of the sphingosine 1-phosphate degradation pathway. ( 22633490 )
2012
7
Sjogren-Larsson syndrome. ( 22411255 )
2012
8
Sjogren-Larsson syndrome: A case report of a rare disease. ( 23130213 )
2011
9
Do you know this syndrome? Sjogren-Larsson syndrome. ( 21308331 )
2010
10
Typical neuroradiological features of sjogren-larsson syndrome. A case report. ( 24207035 )
2009
11
Sjogren-larsson syndrome: case report and review of neurologic abnormalities and ichthyosis. ( 19901712 )
2009
12
Ocular features of Sjogren-Larsson syndrome. ( 17300584 )
2007
13
Adeno-associated virus vectors are able to restore fatty aldehyde dehydrogenase-deficiency. Implications for gene therapy in Sjogren-Larsson syndrome. ( 15834613 )
2005
14
Sjogren-Larsson syndrome: report of two cases. ( 17642579 )
2004
15
Sjogren-Larsson syndrome. ( 11929038 )
2002
16
[Sjogren-Larsson syndrome: two cases with delayed diagnosis]. ( 12218895 )
2002
17
Sjogren - Larsson Syndrome: a case report. ( 12391475 )
2002
18
Mutations associated with Sjogren-Larsson syndrome. ( 9250352 )
1997
19
A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden. ( 9254849 )
1997
20
Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. ( 8528251 )
1996
21
Sjogren-Larsson syndrome. ( 8855639 )
1996
22
The Sjogren-Larsson syndrome in a north Indian sibship. ( 1937621 )
1991
23
Cranial CT in the Sjogren-Larsson syndrome. ( 3431701 )
1987
24
Sjogren-Larsson syndrome. ( 3804430 )
1986
25
Sjogren-Larsson syndrome (dizygotic twins). ( 560199 )
1977
26
Sjogren-Larsson syndrome. ( 4190405 )
1970
27
The Sjogren-Larsson syndrome. ( 5302287 )
1968
28
Sjogren-Larsson syndrome and histidinemia: hereditary biochemical diseases with defects of speech and oral functions. ( 14001384 )
1963
29
Congenital ichthyosis, mental retardation and spasticity (Sjogren-Larsson syndrome). ( 14009718 )
1962
30
Oligophrenia in combination with congenital ichthyosis, spastic disorders and macular degeneration (Sjogren-Larsson syndrome). ( 13842646 )
1960

Variations for Sjogren-Larsson Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Sjogren-Larsson Syndrome:

71 (show all 26)
id Symbol AA change Variation ID SNP ID
1 ALDH3A2 p.Leu106Arg VAR_002249 rs72547558
2 ALDH3A2 p.Cys214Tyr VAR_002250 rs72547564
3 ALDH3A2 p.Cys226Trp VAR_002251 rs72547565
4 ALDH3A2 p.Asp245Asn VAR_002252 rs72547568
5 ALDH3A2 p.Pro315Ser VAR_002254 rs72547571
6 ALDH3A2 p.Ser365Leu VAR_002255 rs72547573
7 ALDH3A2 p.Gly412Arg VAR_002256 rs778115541
8 ALDH3A2 p.Ile45Phe VAR_017510
9 ALDH3A2 p.Val64Asp VAR_017511 rs72547556
10 ALDH3A2 p.Pro114Leu VAR_017512 rs72547559
11 ALDH3A2 p.Pro121Leu VAR_017513 rs72547560
12 ALDH3A2 p.Thr184Met VAR_017514 rs72547562
13 ALDH3A2 p.Thr184Arg VAR_017515
14 ALDH3A2 p.Gly185Ala VAR_017516 rs72547563
15 ALDH3A2 p.Arg228Cys VAR_017517 rs72547566
16 ALDH3A2 p.Cys237Tyr VAR_017518 rs72547567
17 ALDH3A2 p.Lys266Asn VAR_017519 rs72547569
18 ALDH3A2 p.Tyr279Asn VAR_017520 rs72547570
19 ALDH3A2 p.Met328Ile VAR_017521 rs72547572
20 ALDH3A2 p.Asn386Ser VAR_017522 rs72547575
21 ALDH3A2 p.Gly406Arg VAR_017523
22 ALDH3A2 p.His411Tyr VAR_017524
23 ALDH3A2 p.Ser415Asn VAR_017525
24 ALDH3A2 p.Phe419Ser VAR_017526 rs72547576
25 ALDH3A2 p.Arg423His VAR_017527 rs768290318
26 ALDH3A2 p.Lys447Glu VAR_017528 rs67939114

ClinVar genetic disease variations for Sjogren-Larsson Syndrome:

6 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1 ALDH3A2 NM_000382.2(ALDH3A2): c.521delT (p.Leu174Argfs) deletion Pathogenic rs387906254 GRCh37 Chromosome 17, 19559728: 19559728
2 ALDH3A2 NM_000382.2(ALDH3A2): c.809delG (p.Gly270Glufs) deletion Pathogenic rs387906255 GRCh37 Chromosome 17, 19564450: 19564450
3 ALDH3A2 NM_000382.2(ALDH3A2) indel Pathogenic rs730880264 GRCh37 Chromosome 17, 19566646: 19566648
4 ALDH3A2 NM_000382.2(ALDH3A2): c.641G> A (p.Cys214Tyr) single nucleotide variant Pathogenic rs72547564 GRCh37 Chromosome 17, 19559848: 19559848
5 ALDH3A2 NM_000382.2(ALDH3A2): c.943C> T (p.Pro315Ser) single nucleotide variant Pathogenic rs72547571 GRCh37 Chromosome 17, 19566648: 19566648
6 ALDH3A2 NM_000382.2(ALDH3A2): c.1297_1298delGA (p.Glu433Argfs) deletion Pathogenic rs387906256 GRCh37 Chromosome 17, 19575123: 19575124
7 ALDH3A2 NM_000382.2(ALDH3A2): c.1307_1311dupACAAA (p.Leu438Thrfs) duplication Pathogenic rs387906257 GRCh37 Chromosome 17, 19575133: 19575137
8 ALDH3A2 NM_000382.2(ALDH3A2): c.798G> C (p.Lys266Asn) single nucleotide variant Pathogenic/Likely pathogenic rs72547569 GRCh37 Chromosome 17, 19561175: 19561175
9 ALDH3A2 NM_000382.2(ALDH3A2): c.1157A> G (p.Asn386Ser) single nucleotide variant Pathogenic rs72547575 GRCh37 Chromosome 17, 19568310: 19568310
10 ALDH3A2 NM_000382.2(ALDH3A2): c.28C> T (p.Gln10Ter) single nucleotide variant Likely pathogenic rs72547554 GRCh37 Chromosome 17, 19552312: 19552312
11 ALDH3A2 NM_000382.2(ALDH3A2): c.471+1delG deletion Likely pathogenic rs786204741 GRCh38 Chromosome 17, 19652633: 19652633
12 ALDH3A2 NM_000382.2(ALDH3A2): c.551C> T (p.Thr184Met) single nucleotide variant Pathogenic/Likely pathogenic rs72547562 GRCh37 Chromosome 17, 19559758: 19559758
13 ALDH3A2 NM_000382.2(ALDH3A2): c.798+5G> A single nucleotide variant Likely pathogenic rs786204677 GRCh37 Chromosome 17, 19561180: 19561180
14 ALDH3A2 NM_000382.2(ALDH3A2): c.901_903delGCTinsCC (p.Ala301Profs) indel Likely pathogenic rs786204759 GRCh37 Chromosome 17, 19564542: 19564544
15 ALDH3A2 NM_000382.2(ALDH3A2): c.1100delA (p.Asn367Thrfs) deletion Likely pathogenic rs786204625 GRCh37 Chromosome 17, 19566805: 19566805
16 ALDH3A2 NM_000382.2(ALDH3A2): c.733G> A (p.Asp245Asn) single nucleotide variant Pathogenic rs72547568 GRCh38 Chromosome 17, 19657797: 19657797
17 ALDH3A2 NM_000382.2(ALDH3A2): c.574dupA (p.Ile192Asnfs) duplication Pathogenic/Likely pathogenic rs886041826 GRCh37 Chromosome 17, 19559781: 19559781
18 ALDH3A2 NM_000382.2(ALDH3A2): c.25_50del26 (p.Arg9Alafs) deletion Pathogenic/Likely pathogenic rs1057517010 GRCh38 Chromosome 17, 19648996: 19649021
19 ALDH3A2 NM_000382.2(ALDH3A2): c.151_152delAA (p.Lys51Glufs) deletion Likely pathogenic rs1057517403 GRCh38 Chromosome 17, 19649122: 19649123
20 ALDH3A2 NM_000382.2(ALDH3A2): c.153+2T> G single nucleotide variant Likely pathogenic rs1057516863 GRCh37 Chromosome 17, 19552439: 19552439
21 ALDH3A2 NM_000382.2(ALDH3A2): c.231delA (p.Glu77Aspfs) deletion Likely pathogenic rs1057516386 GRCh37 Chromosome 17, 19554937: 19554937
22 ALDH3A2 NM_000382.2(ALDH3A2): c.234G> A (p.Trp78Ter) single nucleotide variant Likely pathogenic rs759874793 GRCh38 Chromosome 17, 19651627: 19651627
23 ALDH3A2 NM_000382.2(ALDH3A2): c.281dupA (p.Ala95Glyfs) duplication Likely pathogenic rs1057516481 GRCh38 Chromosome 17, 19651674: 19651674
24 ALDH3A2 NM_000382.2(ALDH3A2): c.577delG (p.Val193Serfs) deletion Likely pathogenic rs1057516851 GRCh38 Chromosome 17, 19656471: 19656471
25 ALDH3A2 NM_000382.2(ALDH3A2): c.769dupA (p.Ile257Asnfs) duplication Likely pathogenic rs1057517190 GRCh37 Chromosome 17, 19561146: 19561146
26 ALDH3A2 NM_000382.2(ALDH3A2): c.798+1G> A single nucleotide variant Likely pathogenic rs1057517278 GRCh38 Chromosome 17, 19657863: 19657863
27 ALDH3A2 NM_000382.2(ALDH3A2): c.798+1_798+6del6 deletion Likely pathogenic rs1057517352 GRCh38 Chromosome 17, 19657863: 19657868
28 ALDH3A2 NM_000382.2(ALDH3A2): c.798+1delG deletion Pathogenic rs1057517080 GRCh37 Chromosome 17, 19561176: 19561176
29 ALDH3A2 NM_000382.2(ALDH3A2): c.824_825delAG (p.Glu275Valfs) deletion Likely pathogenic rs1057516788 GRCh38 Chromosome 17, 19661152: 19661153
30 ALDH3A2 NM_000382.2(ALDH3A2): c.1094C> T (p.Ser365Leu) single nucleotide variant Likely pathogenic rs72547573 GRCh38 Chromosome 17, 19663486: 19663486
31 ALDH3A2 NM_000382.2(ALDH3A2): c.1108-2A> G single nucleotide variant Likely pathogenic rs1057516742 GRCh38 Chromosome 17, 19664946: 19664946
32 ALDH3A2 NM_000382.2(ALDH3A2): c.1108-1G> C single nucleotide variant Pathogenic rs1036733598 GRCh38 Chromosome 17, 19664947: 19664947
33 ALDH3A2 NM_000382.2(ALDH3A2): c.1108-1G> T single nucleotide variant Likely pathogenic rs1036733598 GRCh38 Chromosome 17, 19664947: 19664947
34 ALDH3A2 NM_000382.2(ALDH3A2): c.1302dupT (p.Ala435Cysfs) duplication Likely pathogenic rs1057517299 GRCh38 Chromosome 17, 19671815: 19671815
35 ALDH3A2 NM_000382.2(ALDH3A2): c.1444-1G> T single nucleotide variant Likely pathogenic rs1057517004 GRCh38 Chromosome 17, 19675557: 19675557
36 ALDH3A2 NM_000382.2(ALDH3A2): c.103C> T (p.Gln35Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 19649074: 19649074
37 ALDH3A2 NM_000382.2(ALDH3A2): c.370_372delGGA (p.Gly124del) deletion Pathogenic GRCh38 Chromosome 17, 19651763: 19651765
38 ALDH3A2 NM_000382.2(ALDH3A2): c.631A> G (p.Lys211Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 19656525: 19656525

Expression for Sjogren-Larsson Syndrome

Search GEO for disease gene expression data for Sjogren-Larsson Syndrome.

Pathways for Sjogren-Larsson Syndrome

GO Terms for Sjogren-Larsson Syndrome

Cellular components related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.26 ALDH3A2 FA2H LPIN1 PNPLA6
2 endoplasmic reticulum membrane GO:0005789 8.92 ALDH3A2 FA2H LPIN1 PNPLA6

Biological processes related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 FA2H LPIN1 PNPLA6
2 metabolic process GO:0008152 9.33 ALDH3A2 PNPLA6 TAZ
3 fatty acid metabolic process GO:0006631 9.32 FA2H LPIN1
4 sphingolipid biosynthetic process GO:0030148 8.96 ALDH3A2 FA2H
5 glycerophospholipid catabolic process GO:0046475 8.62 ABHD12 PNPLA6

Molecular functions related to Sjogren-Larsson Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysophospholipase activity GO:0004622 8.62 ABHD12 PNPLA6

Sources for Sjogren-Larsson Syndrome

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