LAMSHF
MCID: LMB069
MIFTS: 34

Lamb-Shaffer Syndrome (LAMSHF)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Lamb-Shaffer Syndrome

MalaCards integrated aliases for Lamb-Shaffer Syndrome:

Name: Lamb-Shaffer Syndrome 57 58 73 28 5 38 75
12p12.1 Microdeletion Syndrome 58 28
Lamshf 57 73
Developmental and Speech Delay Due to Sox5 Deficiency 58
Sox5 Haploinsufficiency Syndrome 58
Monosomy 12p12.1 58
Del(12)(p12.1) 58

Characteristics:


Inheritance:

Lamb-Shaffer Syndrome: Autosomal dominant 58 57
Developmental and Speech Delay Due to Sox5 Deficiency: Autosomal dominant 58
12p12.1 Microdeletion Syndrome: Autosomal dominant 58

Prevelance:

Lamb-Shaffer Syndrome: <1/1000000 (Worldwide) 58
Developmental and Speech Delay Due to Sox5 Deficiency: <1/1000000 (Worldwide) 58
12p12.1 Microdeletion Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Lamb-Shaffer Syndrome: Infancy 58
Developmental and Speech Delay Due to Sox5 Deficiency: Infancy,Neonatal 58
12p12.1 Microdeletion Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
highly variable phenotype


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Lamb-Shaffer Syndrome

Orphanet 58 Lamb-shaffer syndrome: A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.

12p12.1 microdeletion syndrome: 12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations.

Developmental and speech delay due to sox5 deficiency: Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

MalaCards based summary: Lamb-Shaffer Syndrome, also known as 12p12.1 microdeletion syndrome, is related to strabismus and refractive error. An important gene associated with Lamb-Shaffer Syndrome is SOX5 (SRY-Box Transcription Factor 5). Affiliated tissues include brain and tongue, and related phenotypes are intellectual disability and motor delay

OMIM®: 57 Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015). (616803) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 An autosomal dominant, neurodevelopmental disorder characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. Additional variable skeletal abnormalities may also be present.

Wikipedia: 75 Lamb-Shaffer syndrome is a rare autosomal dominant condition. Less than 40 cases have been reported by... more...

Related Diseases for Lamb-Shaffer Syndrome

Diseases related to Lamb-Shaffer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 strabismus 10.1
2 refractive error 10.1

Symptoms & Phenotypes for Lamb-Shaffer Syndrome

Human phenotypes related to Lamb-Shaffer Syndrome:

58 30 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Obligate (100%) Obligate (100%)
Very frequent (99-80%)
HP:0001249
2 motor delay 58 30 Obligate (100%) Obligate (100%)
HP:0001270
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000750
5 specific learning disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001328
6 hyperplasia of the maxilla 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0430028
7 delayed ability to walk 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0031936
8 frontal bossing 58 30 Frequent (33%) Frequent (79-30%)
HP:0002007
9 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001252
10 narrow palate 58 30 Frequent (33%) Frequent (79-30%)
HP:0000189
11 pectus carinatum 58 30 Frequent (33%) Frequent (79-30%)
HP:0000768
12 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0000648
13 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
HP:0001256
14 strabismus 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000486
15 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
16 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
17 dental crowding 58 30 Frequent (33%) Frequent (79-30%)
HP:0000678
18 vertebral fusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0002948
19 lumbar hyperlordosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002938
20 2-3 toe syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0004691
21 exotropia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000577
22 thoracic kyphoscoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0005659
23 abnormality of brain morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0012443
24 exaggerated median tongue furrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0002711
25 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0001250
26 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0002650
27 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
28 self-injurious behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100716
29 thick vermilion border 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012471
30 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
31 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
32 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007018
33 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
34 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
35 mitral regurgitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001653
36 long face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000276
37 abnormal social behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012433
38 abnormality of the genital system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000078
39 butterfly vertebrae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003316
40 upper motor neuron dysfunction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002493
41 feeding difficulties 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0011968
42 autistic behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000729
43 fused cervical vertebrae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002949
44 abnormal temper tantrums 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025160
45 aggressive behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000718
46 hyperactivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000752
47 broad nasal tip 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000455
48 short chin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000331
49 mild postnatal growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001530
50 pes planus 30 Occasional (7.5%) HP:0001763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
poor speech development

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
strabismus
myopia
downslanting palpebral fissures
epicanthal folds

Head And Neck Mouth:
open mouth

Skeletal Spine:
scoliosis (in some patients)
vertebral clefts (in some patients)

Skeletal Feet:
flat feet (in some patients)
long halluces (in some patients)
overlapping toes (in some patients)

Head And Neck Face:
frontal bossing
facial asymmetry

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
bulbous nasal tip

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Skeletal Hands:
clinodactyly
long fingers (in some patients)

Head And Neck Teeth:
crowded teeth

Neurologic Behavioral Psychiatric Manifestations:
stereotypic features

Clinical features from OMIM®:

616803 (Updated 08-Dec-2022)

Drugs & Therapeutics for Lamb-Shaffer Syndrome

Search Clinical Trials, NIH Clinical Center for Lamb-Shaffer Syndrome

Genetic Tests for Lamb-Shaffer Syndrome

Genetic tests related to Lamb-Shaffer Syndrome:

# Genetic test Affiliating Genes
1 Lamb-Shaffer Syndrome 28 SOX5
2 12p12.1 Microdeletion Syndrome 28

Anatomical Context for Lamb-Shaffer Syndrome

Organs/tissues related to Lamb-Shaffer Syndrome:

MalaCards : Brain, Tongue

Publications for Lamb-Shaffer Syndrome

Articles related to Lamb-Shaffer Syndrome:

(show all 12)
# Title Authors PMID Year
1
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. 62 57 5
26111154 2015
2
Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. 57 5
23498568 2013
3
Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability. 57 5
23220431 2013
4
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. 57 5
22290657 2012
5
A copy number variation morbidity map of developmental delay. 57
21841781 2011
6
Ophthalmic manifestations of Lamb-Shaffer syndrome: a case presentation and literature review. 62
36113698 2022
7
[Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family]. 62
34365620 2021
8
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5). 62
33296143 2021
9
A SOX5 gene variant as a possible contributor to short stature. 62
33434147 2020
10
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. 62
31578471 2020
11
Roles and regulation of SOX transcription factors in skeletogenesis. 62
30902252 2019
12
Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. 62
29477873 2018

Variations for Lamb-Shaffer Syndrome

ClinVar genetic disease variations for Lamb-Shaffer Syndrome:

5 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOX5 NM_006940.6(SOX5):c.622C>T (p.Gln208Ter) SNV Pathogenic
545592 rs1555307370 GRCh37: 12:23893920-23893920
GRCh38: 12:23740986-23740986
2 overlap with 6 genes GRCh37/hg19 12p12.1(chr12:22602778-25225668)x1 CN LOSS Pathogenic
666436 GRCh37: 12:22602778-25225668
GRCh38:
3 SOX5 GRCh37/hg19 12p12.1(chr12:24102502-24173232)x1 CN LOSS Pathogenic
695070 GRCh37: 12:24102502-24173232
GRCh38:
4 SOX5 GRCh37/hg19 12p12.1(chr12:23723120-23908799)x1 CN LOSS Pathogenic
695071 GRCh37: 12:23723120-23908799
GRCh38:
5 SOX5 GRCh37/hg19 12p12.1(chr12:23147341-23893799)x1 CN LOSS Pathogenic
695072 GRCh37: 12:23147341-23893799
GRCh38:
6 overlap with 3 genes GRCh37/hg19 12p12.1(chr12:23457173-25177321)x1 CN LOSS Pathogenic
695073 GRCh37: 12:23457173-25177321
GRCh38:
7 SOX5 GRCh37/hg19 12p12.1(chr12:23773664-23893799)x1 CN LOSS Pathogenic
695074 GRCh37: 12:23773664-23893799
GRCh38:
8 SOX5 GRCh37/hg19 12p12.1(chr12:23718347-23769414)x1 CN LOSS Pathogenic
695075 GRCh37: 12:23718347-23769414
GRCh38:
9 SOX5 GRCh37/hg19 12p12.1(chr12:23685093-23728869)x1 CN LOSS Pathogenic
695076 GRCh37: 12:23685093-23728869
GRCh38:
10 SOX5 NM_006940.6(SOX5):c.518G>A (p.Trp173Ter) SNV Pathogenic
695077 rs1594078334 GRCh37: 12:23908622-23908622
GRCh38: 12:23755688-23755688
11 SOX5 NM_006940.6(SOX5):c.747_748del (p.Arg250fs) DEL Pathogenic
522101 rs1555301854 GRCh37: 12:23887680-23887681
GRCh38: 12:23734746-23734747
12 SOX5 NM_006940.6(SOX5):c.820C>T (p.Gln274Ter) SNV Pathogenic
695078 rs1593090725 GRCh37: 12:23818489-23818489
GRCh38: 12:23665555-23665555
13 SOX5 NM_006940.6(SOX5):c.1060G>T (p.Gly354Ter) SNV Pathogenic
222022 rs869025321 GRCh37: 12:23757425-23757425
GRCh38: 12:23604491-23604491
14 SOX5 NC_000012.12:g.23771866_23888764del DEL Pathogenic
222020 GRCh37: 12:23924800-24041698
GRCh38: 12:23771866-23888764
15 SOX5 NC_000012.12:g.23484745_23564581del DEL Pathogenic
222018 GRCh37: 12:23637679-23717515
GRCh38: 12:23484745-23564581
16 SOX5 NC_000012.11:g.23979791_24033225del DEL Pathogenic
222021 GRCh37: 12:23979791-24033225
GRCh38: 12:23826857-23880291
17 SOX5 NC_000012.12:g.23488792_23626279del DEL Pathogenic
222019 GRCh37: 12:23641726-23779213
GRCh38: 12:23488792-23626279
18 SOX5 NM_006940.6(SOX5):c.1465dup (p.Leu489fs) DUP Pathogenic
695080 rs1592099396 GRCh37: 12:23716214-23716215
GRCh38: 12:23563280-23563281
19 SOX5 NM_006940.6(SOX5):c.1597+2T>A SNV Pathogenic
449233 rs1555141265 GRCh37: 12:23699248-23699248
GRCh38: 12:23546314-23546314
20 SOX5 NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter) SNV Pathogenic
695082 rs1591909421 GRCh37: 12:23696303-23696303
GRCh38: 12:23543369-23543369
21 SOX5 NM_006940.6(SOX5):c.1814A>G (p.Tyr605Cys) SNV Pathogenic
695087 rs1591833522 GRCh37: 12:23689561-23689561
GRCh38: 12:23536627-23536627
22 SOX5 NM_006940.6(SOX5):c.1819G>T (p.Glu607Ter) SNV Pathogenic
695088 rs1591833497 GRCh37: 12:23689556-23689556
GRCh38: 12:23536622-23536622
23 SOX5 NM_006940.6(SOX5):c.405dup (p.Lys136fs) DUP Pathogenic
973764 rs2096571436 GRCh37: 12:23998992-23998993
GRCh38: 12:23846058-23846059
24 SOX5 NM_006940.6(SOX5):c.959del (p.Pro320fs) DEL Pathogenic
979189 rs2079966010 GRCh37: 12:23793804-23793804
GRCh38: 12:23640870-23640870
25 SOX5 NM_006940.6(SOX5):c.755dup (p.Gln253fs) DUP Pathogenic
1172669 GRCh37: 12:23887672-23887673
GRCh38: 12:23734738-23734739
26 SOX5 NM_006940.6(SOX5):c.433dup (p.Thr145fs) DUP Pathogenic
1300230 GRCh37: 12:23998964-23998965
GRCh38: 12:23846030-23846031
27 SOX5 NM_006940.6(SOX5):c.1489-2A>G SNV Pathogenic
1686224 GRCh37: 12:23699360-23699360
GRCh38: 12:23546426-23546426
28 SOX5 NM_006940.6(SOX5):c.1807C>T (p.Gln603Ter) SNV Pathogenic
1527935 GRCh37: 12:23689568-23689568
GRCh38: 12:23536634-23536634
29 SOX5 NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter) SNV Pathogenic
695081 rs895607185 GRCh37: 12:23716203-23716203
GRCh38: 12:23563269-23563269
30 overlap with 9 genes GRCh37/hg19 1p36.12-36.11(chr1:23814543-24163928) CN LOSS Pathogenic
1703538 GRCh37: 1:23814543-24163928
GRCh38:
31 SOX5 NM_006940.6(SOX5):c.1136del (p.Ser379fs) DEL Pathogenic
1709432 GRCh37: 12:23757349-23757349
GRCh38: 12:23604415-23604415
32 SOX5 NM_006940.6(SOX5):c.352C>T (p.Arg118Ter) SNV Pathogenic
1098341 GRCh37: 12:23999046-23999046
GRCh38: 12:23846112-23846112
33 SOX5 NM_006940.6(SOX5):c.1782G>A (p.Trp594Ter) SNV Pathogenic
695086 rs1591833842 GRCh37: 12:23689593-23689593
GRCh38: 12:23536659-23536659
34 SOX5 NM_006940.6(SOX5):c.1678A>G (p.Met560Val) SNV Pathogenic
695083 rs1591908609 GRCh37: 12:23696238-23696238
GRCh38: 12:23543304-23543304
35 SOX5 NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) SNV Pathogenic/Likely Pathogenic
620040 rs1565669640 GRCh37: 12:23696205-23696205
GRCh38: 12:23543271-23543271
36 SOX5 NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) SNV Pathogenic/Likely Pathogenic
503755 rs767241917 GRCh37: 12:23893905-23893905
GRCh38: 12:23740971-23740971
37 SOX5 NM_006940.6(SOX5):c.1681A>C (p.Asn561His) SNV Likely Pathogenic
695084 rs1591908568 GRCh37: 12:23696235-23696235
GRCh38: 12:23543301-23543301
38 SOX5 NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) SNV Likely Pathogenic
695079 rs1592099852 GRCh37: 12:23716269-23716269
GRCh38: 12:23563335-23563335
39 SOX5 NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys) SNV Likely Pathogenic
982856 rs1942462618 GRCh37: 12:23696157-23696157
GRCh38: 12:23543223-23543223
40 SOX5 NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser) SNV Likely Pathogenic
807695 rs1591833522 GRCh37: 12:23689561-23689561
GRCh38: 12:23536627-23536627
41 SOX5 NM_006940.6(SOX5):c.1789A>G (p.Met597Val) SNV Likely Pathogenic
873457 rs1940534444 GRCh37: 12:23689586-23689586
GRCh38: 12:23536652-23536652
42 SOX5 NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) SNV Likely Pathogenic
431148 rs1135401816 GRCh37: 12:23689480-23689480
GRCh38: 12:23536546-23536546
43 SOX5 NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) SNV Likely Pathogenic
695085 rs773832380 GRCh37: 12:23696204-23696204
GRCh38: 12:23543270-23543270
44 SOX5 NM_006940.6(SOX5):c.932-2A>C SNV Likely Pathogenic
1709787 GRCh37: 12:23793833-23793833
GRCh38: 12:23640899-23640899
45 SOX5 NM_006940.6(SOX5):c.482-2A>C SNV Likely Pathogenic
374026 rs1057518845 GRCh37: 12:23908660-23908660
GRCh38: 12:23755726-23755726
46 SOX5 NM_006940.6(SOX5):c.224_225del (p.Gln75fs) DEL Likely Pathogenic
1703251 GRCh37: 12:24048772-24048773
GRCh38: 12:23895838-23895839
47 SOX5 NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) SNV Likely Pathogenic
695089 rs1591833159 GRCh37: 12:23689507-23689507
GRCh38: 12:23536573-23536573
48 SOX5 NM_006940.6(SOX5):c.1673G>A (p.Arg558His) SNV Likely Pathogenic
973345 GRCh37: 12:23696243-23696243
GRCh38: 12:23543309-23543309
49 SOX5 NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg) SNV Uncertain Significance
1172558 GRCh37: 12:23689519-23689519
GRCh38: 12:23536585-23536585
50 SOX5 NM_006940.6(SOX5):c.1017G>A (p.Gln339_Gln340=) SNV Uncertain Significance
1696452 GRCh37: 12:23793746-23793746
GRCh38: 12:23640812-23640812

Expression for Lamb-Shaffer Syndrome

Search GEO for disease gene expression data for Lamb-Shaffer Syndrome.

Pathways for Lamb-Shaffer Syndrome

GO Terms for Lamb-Shaffer Syndrome

Sources for Lamb-Shaffer Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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