PMSE
MCID: PLY062
MIFTS: 41

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy (PMSE)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

MalaCards integrated aliases for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

Name: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 57 36 29 13 6 39 70
Pmse Syndrome 57 20 58
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome 20
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome 58
Pretzel Syndrome 20
Pmse 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in childhood may occur
onset of seizures in first months of life
developmental stagnation after seizure onset
increased frequency among the amish


HPO:

31
polyhydramnios, megalencephaly, and symptomatic epilepsy:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

GARD : 20 Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability. Some patients also have heart problems, diabetes insipidus, kidney problems and leukemia. It is caused by a mutation in the LYK5 gene. Seizures are difficult to treat and there is ongoing research for more effective medication.

MalaCards based summary : Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy, also known as pmse syndrome, is related to polyhydramnios and macrocephaly/megalencephaly syndrome, autosomal recessive. An important gene associated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy is STRADA (STE20 Related Adaptor Alpha), and among its related pathways/superpathways are mTOR signaling pathway and mTOR signaling pathway (KEGG). Affiliated tissues include uterus, heart and brain, and related phenotypes are macrocephaly and megalencephaly

KEGG : 36 Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 C-terminal residues of the protein. Individuals affected by this condition suffer from severe mental retardation, gross movement disorders, and childhood mortality. Severe intractable epilepsy and megalencephaly are characteristic.

More information from OMIM: 611087

Related Diseases for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Diseases related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 polyhydramnios 30.0 STRADA STK11
2 macrocephaly/megalencephaly syndrome, autosomal recessive 10.5
3 epilepsy 10.5
4 megalencephaly 10.5
5 alacrima, achalasia, and mental retardation syndrome 10.2
6 west syndrome 10.2
7 heart septal defect 10.2
8 status epilepticus 10.2
9 atrial heart septal defect 10.2
10 congestive heart failure 10.2
11 diabetes insipidus 10.2
12 hypotonia 10.2

Graphical network of the top 20 diseases related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:



Diseases related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Symptoms & Phenotypes for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Human phenotypes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000256
2 megalencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001355
3 polyhydramnios 58 31 very rare (1%) Very frequent (99-80%) HP:0001561
4 infantile spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0012469
5 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
6 cerebral white matter hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0012430
7 periventricular white matter hyperdensities 58 31 frequent (33%) Frequent (79-30%) HP:0030891
8 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
9 decreased muscle mass 58 31 occasional (7.5%) Occasional (29-5%) HP:0003199
10 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
11 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
12 atrial septal defect 58 31 very rare (1%) Occasional (29-5%) HP:0001631
13 joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001388
14 diabetes insipidus 58 31 very rare (1%) Occasional (29-5%) HP:0000873
15 wide mouth 58 31 very rare (1%) Occasional (29-5%) HP:0000154
16 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
17 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
18 highly arched eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0002553
19 nephrocalcinosis 58 31 very rare (1%) Occasional (29-5%) HP:0000121
20 high forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000348
21 severe global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0011344
22 severe muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006829
23 tented upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0010804
24 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
25 focal impaired awareness seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002384
26 status epilepticus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002133
27 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
28 facial hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000297
29 interictal epileptiform activity 58 31 occasional (7.5%) Occasional (29-5%) HP:0011182
30 hypertelorism 31 very rare (1%) HP:0000316
31 wide nasal bridge 31 very rare (1%) HP:0000431
32 thick lower lip vermilion 31 very rare (1%) HP:0000179
33 long face 31 very rare (1%) HP:0000276
34 large forehead 31 very rare (1%) HP:0002003
35 premature birth 31 very rare (1%) HP:0001622
36 thick upper lip vermilion 31 very rare (1%) HP:0000215
37 hypotonia 31 very rare (1%) HP:0001252
38 hyperplasia of midface 31 very rare (1%) HP:0012371
39 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
40 intellectual disability 31 HP:0001249
41 seizures 58 Very frequent (99-80%)
42 muscular hypotonia 58 Very frequent (99-80%)
43 abnormal facial shape 58 Very frequent (99-80%)
44 strabismus 31 HP:0000486
45 slender build 31 HP:0001533
46 abnormality of cardiovascular system morphology 58 Occasional (29-5%)
47 generalized hypotonia 31 HP:0001290
48 difficulty walking 31 HP:0002355
49 inability to walk 31 HP:0002540
50 astrocytosis 31 HP:0002446

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Head And Neck Mouth:
open mouth
thick lips
enlarged mouth

Head And Neck Face:
long face
large forehead
hypotonic facies
overgrowth of the mandible

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Nose:
broad nasal bridge

Genitourinary Kidneys:
nephrocalcinosis (in some patients)

Skeletal:
joint laxity (1 patient)

Head And Neck Eyes:
hypertelorism
strabismus
peaked eyebrows

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Neurologic Central Nervous System:
ventriculomegaly
difficulty walking
inability to walk
astrocytosis
mental retardation
more
Muscle Soft Tissue:
hypotonia
skeletal muscle hypoplasia

Growth Weight:
thin body habitus

Cardiovascular Heart:
atrial septal defects (in some patients)

Endocrine Features:
diabetes insipidus (in some patients)

Clinical features from OMIM®:

611087 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.23 STK11 STRADA
2 Decreased substrate adherent cell growth GR00193-A-3 9.23 STK11 STRADA
3 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.65 STRADA

Drugs & Therapeutics for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Search Clinical Trials , NIH Clinical Center for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Genetic Tests for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Genetic tests related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

# Genetic test Affiliating Genes
1 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 29 STRADA

Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

MalaCards organs/tissues related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

40
Uterus, Heart, Brain, Skeletal Muscle

Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Articles related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

(show all 11)
# Title Authors PMID Year
1
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). 61 57 6
27170158 2016
2
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. 57 6 61
17522105 2007
3
STRADalpha deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice. 61 6
20424326 2010
4
STRADA-mutant human cortical organoids model megalencephaly and exhibit delayed neuronal differentiation. 61
33619909 2021
5
Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA. 61
33247513 2021
6
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. 61
33605605 2021
7
Repositioning of Somatic Golgi Apparatus Is Essential for the Dendritic Establishment of Adult-Born Hippocampal Neurons. 61
29217690 2018
8
mTOR inhibition in epilepsy: rationale and clinical perspectives. 61
25633849 2015
9
Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder. 61
23616120 2013
10
Caveat mTOR: aberrant signaling disrupts corticogenesis. 61
20424320 2010
11
ATP and MO25alpha regulate the conformational state of the STRADalpha pseudokinase and activation of the LKB1 tumour suppressor. 61
19513107 2009

Variations for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

ClinVar genetic disease variations for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

6 (show top 50) (show all 124)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STRADA STRADA, 7-KB DEL Deletion Pathogenic 2186 GRCh37:
GRCh38:
2 STRADA NM_001003787.4(STRADA):c.842dup (p.Asp281fs) Duplication Pathogenic 254243 rs886037929 GRCh37: 17:61784010-61784011
GRCh38: 17:63706650-63706651
3 STRADA NM_001003787.4(STRADA):c.1036C>T (p.Arg346Ter) SNV Pathogenic 536756 rs748855607 GRCh37: 17:61781765-61781765
GRCh38: 17:63704405-63704405
4 STRADA NM_001003787.4(STRADA):c.28C>T (p.Arg10Ter) SNV Pathogenic 952543 GRCh37: 17:61805702-61805702
GRCh38: 17:63728342-63728342
5 STRADA NM_001003787.4(STRADA):c.682C>T (p.Arg228Ter) SNV Pathogenic 842228 GRCh37: 17:61784678-61784678
GRCh38: 17:63707318-63707318
6 STRADA NM_001003787.4(STRADA):c.252_253TG[1] (p.Val85fs) Microsatellite Pathogenic 856509 GRCh37: 17:61790859-61790860
GRCh38: 17:63713499-63713500
7 STRADA NM_001003787.4(STRADA):c.140C>G (p.Ser47Ter) SNV Pathogenic 942810 GRCh37: 17:61791452-61791452
GRCh38: 17:63714092-63714092
8 STRADA NM_001003787.4(STRADA):c.37-1G>C SNV Likely pathogenic 663375 rs1230074670 GRCh37: 17:61804056-61804056
GRCh38: 17:63726696-63726696
9 STRADA NM_001003787.4(STRADA):c.1101-1G>C SNV Likely pathogenic 800960 rs1598144913 GRCh37: 17:61781408-61781408
GRCh38: 17:63704048-63704048
10 STRADA NM_001003787.4(STRADA):c.823G>A (p.Gly275Ser) SNV Uncertain significance 837429 GRCh37: 17:61784030-61784030
GRCh38: 17:63706670-63706670
11 STRADA NM_001003787.4(STRADA):c.917C>T (p.Pro306Leu) SNV Uncertain significance 839474 GRCh37: 17:61781884-61781884
GRCh38: 17:63704524-63704524
12 STRADA NM_001003787.4(STRADA):c.736C>T (p.Pro246Ser) SNV Uncertain significance 468887 rs201773578 GRCh37: 17:61784624-61784624
GRCh38: 17:63707264-63707264
13 STRADA NM_001003787.4(STRADA):c.1154G>A (p.Arg385His) SNV Uncertain significance 536753 rs751571199 GRCh37: 17:61781101-61781101
GRCh38: 17:63703741-63703741
14 STRADA NM_001003787.4(STRADA):c.535G>T (p.Val179Leu) SNV Uncertain significance 536754 rs777475313 GRCh37: 17:61787897-61787897
GRCh38: 17:63710537-63710537
15 STRADA NM_001003787.4(STRADA):c.1063T>C (p.Phe355Leu) SNV Uncertain significance 949165 GRCh37: 17:61781738-61781738
GRCh38: 17:63704378-63704378
16 STRADA NM_001003787.4(STRADA):c.946C>T (p.Arg316Cys) SNV Uncertain significance 864475 GRCh37: 17:61781855-61781855
GRCh38: 17:63704495-63704495
17 STRADA NM_001003787.4(STRADA):c.950C>T (p.Ser317Leu) SNV Uncertain significance 937105 GRCh37: 17:61781851-61781851
GRCh38: 17:63704491-63704491
18 STRADA NM_001003787.4(STRADA):c.1264G>A (p.Glu422Lys) SNV Uncertain significance 942197 GRCh37: 17:61780991-61780991
GRCh38: 17:63703631-63703631
19 STRADA NM_001003787.4(STRADA):c.694G>A (p.Asp232Asn) SNV Uncertain significance 843578 GRCh37: 17:61784666-61784666
GRCh38: 17:63707306-63707306
20 STRADA NM_001003787.4(STRADA):c.1223C>A (p.Ser408Tyr) SNV Uncertain significance 847533 GRCh37: 17:61781032-61781032
GRCh38: 17:63703672-63703672
21 STRADA NM_001003787.4(STRADA):c.170A>T (p.Glu57Val) SNV Uncertain significance 847603 GRCh37: 17:61791422-61791422
GRCh38: 17:63714062-63714062
22 STRADA NM_001003787.4(STRADA):c.128A>G (p.Asn43Ser) SNV Uncertain significance 959455 GRCh37: 17:61791464-61791464
GRCh38: 17:63714104-63714104
23 STRADA NM_001003787.4(STRADA):c.37-3T>C SNV Uncertain significance 963522 GRCh37: 17:61804058-61804058
GRCh38: 17:63726698-63726698
24 STRADA NM_001003787.4(STRADA):c.620G>C (p.Gly207Ala) SNV Uncertain significance 964869 GRCh37: 17:61784740-61784740
GRCh38: 17:63707380-63707380
25 STRADA NM_001003787.4(STRADA):c.1009G>A (p.Gly337Ser) SNV Uncertain significance 972368 GRCh37: 17:61781792-61781792
GRCh38: 17:63704432-63704432
26 STRADA NM_001003787.4(STRADA):c.368A>G (p.Lys123Arg) SNV Uncertain significance 468883 rs1045863605 GRCh37: 17:61788177-61788177
GRCh38: 17:63710817-63710817
27 STRADA NM_001003787.4(STRADA):c.947G>A (p.Arg316His) SNV Uncertain significance 468890 rs1305201887 GRCh37: 17:61781854-61781854
GRCh38: 17:63704494-63704494
28 STRADA NM_001003787.4(STRADA):c.992C>T (p.Thr331Ile) SNV Uncertain significance 536758 rs539671529 GRCh37: 17:61781809-61781809
GRCh38: 17:63704449-63704449
29 STRADA NM_001003787.4(STRADA):c.326A>G (p.Asn109Ser) SNV Uncertain significance 855059 GRCh37: 17:61790788-61790788
GRCh38: 17:63713428-63713428
30 STRADA NM_001003787.4(STRADA):c.38G>A (p.Arg13Gln) SNV Uncertain significance 863115 GRCh37: 17:61804054-61804054
GRCh38: 17:63726694-63726694
31 STRADA NM_001003787.4(STRADA):c.195G>C (p.Glu65Asp) SNV Uncertain significance 933465 GRCh37: 17:61791397-61791397
GRCh38: 17:63714037-63714037
32 STRADA NM_001003787.4(STRADA):c.298C>A (p.Arg100=) SNV Uncertain significance 936513 GRCh37: 17:61790816-61790816
GRCh38: 17:63713456-63713456
33 STRADA NM_001003787.4(STRADA):c.1091C>G (p.Pro364Arg) SNV Uncertain significance 939258 GRCh37: 17:61781710-61781710
GRCh38: 17:63704350-63704350
34 STRADA NM_001003787.4(STRADA):c.827A>G (p.His276Arg) SNV Uncertain significance 942436 GRCh37: 17:61784026-61784026
GRCh38: 17:63706666-63706666
35 STRADA NM_001003787.4(STRADA):c.38G>T (p.Arg13Leu) SNV Uncertain significance 965964 GRCh37: 17:61804054-61804054
GRCh38: 17:63726694-63726694
36 STRADA NM_001003787.4(STRADA):c.410T>C (p.Phe137Ser) SNV Uncertain significance 967086 GRCh37: 17:61788135-61788135
GRCh38: 17:63710775-63710775
37 STRADA NM_001003787.4(STRADA):c.707A>G (p.Tyr236Cys) SNV Uncertain significance 999709 GRCh37: 17:61784653-61784653
GRCh38: 17:63707293-63707293
38 STRADA NM_001003787.4(STRADA):c.911C>T (p.Thr304Ile) SNV Uncertain significance 1001334 GRCh37: 17:61781890-61781890
GRCh38: 17:63704530-63704530
39 STRADA NM_001003787.4(STRADA):c.1067T>C (p.Val356Ala) SNV Uncertain significance 1001751 GRCh37: 17:61781734-61781734
GRCh38: 17:63704374-63704374
40 STRADA NM_001003787.4(STRADA):c.160T>C (p.Ser54Pro) SNV Uncertain significance 1002146 GRCh37: 17:61791432-61791432
GRCh38: 17:63714072-63714072
41 STRADA NM_001003787.4(STRADA):c.1193C>T (p.Thr398Ile) SNV Uncertain significance 1002910 GRCh37: 17:61781062-61781062
GRCh38: 17:63703702-63703702
42 STRADA NM_001003787.4(STRADA):c.512C>T (p.Ala171Val) SNV Uncertain significance 1005256 GRCh37: 17:61787920-61787920
GRCh38: 17:63710560-63710560
43 STRADA NM_001003787.4(STRADA):c.179G>T (p.Ser60Ile) SNV Uncertain significance 433135 rs56271007 GRCh37: 17:61791413-61791413
GRCh38: 17:63714053-63714053
44 STRADA NM_001003787.4(STRADA):c.1174G>A (p.Glu392Lys) SNV Uncertain significance 1010891 GRCh37: 17:61781081-61781081
GRCh38: 17:63703721-63703721
45 STRADA NM_001003787.4(STRADA):c.1053C>G (p.His351Gln) SNV Uncertain significance 1011736 GRCh37: 17:61781748-61781748
GRCh38: 17:63704388-63704388
46 STRADA NM_001003787.4(STRADA):c.95-9C>G SNV Uncertain significance 573154 rs751729626 GRCh37: 17:61800695-61800695
GRCh38: 17:63723335-63723335
47 STRADA NM_001003787.4(STRADA):c.695A>G (p.Asp232Gly) SNV Uncertain significance 576387 rs1405579656 GRCh37: 17:61784665-61784665
GRCh38: 17:63707305-63707305
48 STRADA NM_001003787.4(STRADA):c.412A>G (p.Ile138Val) SNV Uncertain significance 452292 rs767564418 GRCh37: 17:61788133-61788133
GRCh38: 17:63710773-63710773
49 STRADA NM_001003787.4(STRADA):c.580A>C (p.Arg194=) SNV Uncertain significance 663220 rs750255190 GRCh37: 17:61787852-61787852
GRCh38: 17:63710492-63710492
50 STRADA NM_001003787.4(STRADA):c.456C>T (p.Tyr152=) SNV Uncertain significance 951818 GRCh37: 17:61788089-61788089
GRCh38: 17:63710729-63710729

Expression for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Search GEO for disease gene expression data for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy.

Pathways for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Pathways related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to KEGG:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

Pathways related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 STRADA STK11
2
Show member pathways
11.71 STRADA STK11
3
Show member pathways
11.55 STRADA STK11
4
Show member pathways
11.19 STRADA STK11
5 10.25 STRADA STK11

GO Terms for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Biological processes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.26 STRADA STK11
2 protein phosphorylation GO:0006468 9.16 STRADA STK11
3 cell cycle arrest GO:0007050 8.96 STRADA STK11
4 activation of protein kinase activity GO:0032147 8.62 STRADA STK11

Molecular functions related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.96 STRADA STK11
2 protein kinase activator activity GO:0030295 8.62 STRADA STK11

Sources for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....