MRXARX
MCID: MNT304
MIFTS: 35

Mental Retardation, X-Linked, with or Without Seizures, Arx-Related (MRXARX)

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

Aliases & Classifications for Mental Retardation, X-Linked, with or Without Seizures,...

MalaCards integrated aliases for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

Name: Mental Retardation, X-Linked, with or Without Seizures, Arx-Related 57 72 70
Mental Retardation, X-Linked 29 and Others 57 29 13
Mrxarx 57 12 72
Mental Retardation, with or Without Seizures, Arx-Related, X-Linked 29 6
Arx-Related Intellectual Disability 12 20
Mrx29 57 72
Mrx32 57 72
Mrx33 57 72
Mrx38 57 72
Mrx43 57 72
Mrx54 57 72
Mrx76 57 72
Mrx87 57 72
X-Linked Mental Retardation with or Without Seizures Arx-Related 12
Mental Retardation X-Linked with or Without Seizures Arx-Related 72
Non-Syndromic X-Linked Intellectual Disability Arx-Related 12
Mental Retardation, X-Linked, Type 29 and Others 39
X-Linked Mental Retardation 29 and Others 12
Mental Retardation, X-Linked 29; Mrx29 57
Mental Retardation, X-Linked 32; Mrx32 57
Mental Retardation, X-Linked 33; Mrx33 57
Mental Retardation, X-Linked 38; Mrx38 57
Mental Retardation, X-Linked 43; Mrx43 57
Mental Retardation, X-Linked 52; Mrx52 57
Mental Retardation, X-Linked 54; Mrx54 57
Mental Retardation, X-Linked 76; Mrx76 57
Mental Retardation, X-Linked 87; Mrx87 57
Mental Retardation, X-Linked 29 57
Mental Retardation, X-Linked 32 57
Mental Retardation, X-Linked 33 57
Mental Retardation, X-Linked 38 57
Mental Retardation, X-Linked 43 57
Mental Retardation, X-Linked 76 57
Mental Retardation, X-Linked 87 57
X-Linked Mental Retardation 29 12
X-Linked Mental Retardation 32 12
X-Linked Mental Retardation 33 12
X-Linked Mental Retardation 38 12
X-Linked Mental Retardation 43 12
X-Linked Mental Retardation 76 12
X-Linked Mental Retardation 87 12
Mental Retardation X-Linked 29 72
Mental Retardation X-Linked 32 72
Mental Retardation X-Linked 33 72
Mental Retardation X-Linked 38 72
Mental Retardation X-Linked 43 72
Mental Retardation X-Linked 76 72
Mental Retardation X-Linked 87 72
Mrx52 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive


HPO:

31
mental retardation, x-linked, with or without seizures, arx-related:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112021
OMIM® 57 300419
OMIM Phenotypic Series 57 PS309530
MeSH 44 D038901
MedGen 41 C0796244
UMLS 70 C0796244

Summaries for Mental Retardation, X-Linked, with or Without Seizures,...

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked, with or without seizures, ARX-related: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Mental Retardation, X-Linked, with or Without Seizures, Arx-Related, also known as mental retardation, x-linked 29 and others, is related to partington x-linked mental retardation syndrome and developmental and epileptic encephalopathy 1. An important gene associated with Mental Retardation, X-Linked, with or Without Seizures, Arx-Related is ARX (Aristaless Related Homeobox). Affiliated tissues include brain and testes, and related phenotypes are long palpebral fissure and periorbital fullness

Disease Ontology : 12 A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has material basis in hemizygous mutation in ARX on chromosome Xp21.3.

OMIM® : 57 ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008). (300419) (Updated 05-Apr-2021)

Related Diseases for Mental Retardation, X-Linked, with or Without Seizures,...

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:



Diseases related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related

Symptoms & Phenotypes for Mental Retardation, X-Linked, with or Without Seizures,...

Human phenotypes related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

31
# Description HPO Frequency HPO Source Accession
1 long palpebral fissure 31 occasional (7.5%) HP:0000637
2 periorbital fullness 31 occasional (7.5%) HP:0000629
3 seizure 31 occasional (7.5%) HP:0001250
4 intellectual disability 31 HP:0001249

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures (in some patients)
mental retardation, mild to severe (iq 21-67 for those reported)

Head And Neck Eyes:
periorbital fullness (in some patients)
wide palpebral fissures (in some patients)

Clinical features from OMIM®:

300419 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, X-Linked, with or Without Seizures,...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related

Genetic Tests for Mental Retardation, X-Linked, with or Without Seizures,...

Genetic tests related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

# Genetic test Affiliating Genes
1 Mental Retardation, with or Without Seizures, Arx-Related, X-Linked 29 ARX
2 Mental Retardation, X-Linked 29 and Others 29

Anatomical Context for Mental Retardation, X-Linked, with or Without Seizures,...

MalaCards organs/tissues related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

40
Brain, Testes

Publications for Mental Retardation, X-Linked, with or Without Seizures,...

Articles related to Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

(show all 46)
# Title Authors PMID Year
1
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 57 6 61
17480217 2007
2
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. 6 57
15850492 2005
3
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. 6 57
12116222 2002
4
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 57 6
11971879 2002
5
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis. 57 6
10398246 1999
6
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability. 6
31623504 2020
7
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. 6
26029707 2015
8
The genetic landscape of infantile spasms. 6
24781210 2014
9
Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females. 6
23039062 2013
10
CDKL5 and ARX mutations in males with early-onset epilepsy. 6
23583054 2013
11
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 6
23246292 2013
12
Novel mutation in ARX associated with early hand preference and a mild phenotype. 6
22922607 2012
13
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. 6
21204215 2011
14
ARX spectrum disorders: making inroads into the molecular pathology. 6
20506206 2010
15
Mutations in ARX Result in Several Defects Involving GABAergic Neurons. 6
20300201 2010
16
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. 6
19606478 2009
17
Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. 6
19507262 2009
18
Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 6
19439424 2009
19
Expansion of the ARX spectrum. 57
18462864 2008
20
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 6
17664401 2007
21
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. 6
17490853 2007
22
Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. 6
17331656 2007
23
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. 6
16235064 2006
24
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. 6
16078051 2005
25
Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation. 6
15726411 2005
26
A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. 6
15533998 2004
27
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. 6
15200506 2004
28
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. 6
15151512 2004
29
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 57
14722918 2004
30
Polyalanine expansion of ARX associated with cryptogenic West syndrome. 6
12874418 2003
31
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. 6
12640086 2003
32
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 6
12376946 2002
33
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 6
12379852 2002
34
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. 6
12376949 2002
35
Clinical study and haplotype analysis in two brothers with Partington syndrome. 6
12376938 2002
36
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 6
11889467 2002
37
Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22. 57
10398242 1999
38
Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54). 57
10398243 1999
39
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. 6
10353782 1999
40
Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21. 57
9001795 1996
41
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). 57
8826457 1996
42
Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). 57
8826462 1996
43
Linkage analysis in three families with nonspecific X-linked mental retardation. 6
8826464 1996
44
Anterior basal encephalocele in the median cleft face syndrome. Comments on nosology and treatment. 6
2080994 1990
45
X-linked mental retardation with dystonic movements of the hands. 6
3177452 1988
46
A morphological classification of sincipital encephalomeningoceles. 6
5008734 1972

Variations for Mental Retardation, X-Linked, with or Without Seizures,...

ClinVar genetic disease variations for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

6 (show top 50) (show all 154)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARX NM_139058.3(ARX):c.98T>C (p.Leu33Pro) SNV Pathogenic 11198 rs28936077 GRCh37: X:25033757-25033757
GRCh38: X:25015640-25015640
2 LOC109610631 , ARX NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup) Duplication Pathogenic 473011 rs1556056154 GRCh37: X:25031653-25031654
GRCh38: X:25013536-25013537
3 LOC109610631 , ARX NM_139058.3(ARX):c.306_308GGC[18] (p.Ala108_Ala115dup) Microsatellite Pathogenic 210327 rs387906492 GRCh37: X:25031776-25031777
GRCh38: X:25013659-25013660
4 ARX ARX, ARG2085HIS Variation Pathogenic 626338 GRCh37:
GRCh38:
5 ARX NM_139058.3(ARX):c.956C>A (p.Ser319Ter) SNV Pathogenic 945320 GRCh37: X:25031156-25031156
GRCh38: X:25013039-25013039
6 ARX NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs) Duplication Pathogenic 950929 GRCh37: X:25025336-25025337
GRCh38: X:25007219-25007220
7 LOC109610631 , ARX NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) Duplication Pathogenic 11187 rs387906493 GRCh37: X:25031660-25031661
GRCh38: X:25013543-25013544
8 LOC109610631 , ARX NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) Duplication Pathogenic 11187 rs387906493 GRCh37: X:25031660-25031661
GRCh38: X:25013543-25013544
9 LOC109610631 , ARX NM_139058.3(ARX):c.306_308GGC[17] (p.Ala109_Ala115dup) Microsatellite Pathogenic 11186 rs387906492 GRCh37: X:25031776-25031777
GRCh38: X:25013659-25013660
10 ARX NM_139058.3(ARX):c.856G>A (p.Gly286Ser) SNV Pathogenic 11199 rs28935479 GRCh37: X:25031256-25031256
GRCh38: X:25013139-25013139
11 ARX NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) Deletion Pathogenic 872755 GRCh37: X:25023005-25023005
GRCh38: X:25004888-25004888
12 LOC109610631 , ARX NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) Duplication Pathogenic 96455 rs398124510 GRCh37: X:25031647-25031648
GRCh38: X:25013530-25013531
13 ARX NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer) Deletion Likely pathogenic 617900 rs1569394026 GRCh37: X:25025293-25025302
GRCh38: X:25007176-25007185
14 ARX NM_139058.3(ARX):c.1187dup (p.Gly397fs) Duplication Likely pathogenic 11194 rs1328291159 GRCh37: X:25025488-25025489
GRCh38: X:25007371-25007372
15 ARX NM_139058.3(ARX):c.187G>A (p.Ala63Thr) SNV Uncertain significance 581240 rs769996976 GRCh37: X:25033668-25033668
GRCh38: X:25015551-25015551
16 ARX NM_139058.3(ARX):c.187G>A (p.Ala63Thr) SNV Uncertain significance 581240 rs769996976 GRCh37: X:25033668-25033668
GRCh38: X:25015551-25015551
17 ARX NM_139058.3(ARX):c.1327A>G (p.Ser443Gly) SNV Uncertain significance 843814 GRCh37: X:25025349-25025349
GRCh38: X:25007232-25007232
18 ARX NM_139058.3(ARX):c.553C>T (p.Pro185Ser) SNV Uncertain significance 845059 GRCh37: X:25031559-25031559
GRCh38: X:25013442-25013442
19 ARX NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup) Microsatellite Uncertain significance 951453 GRCh37: X:25031551-25031552
GRCh38: X:25013434-25013435
20 ARX NM_139058.3(ARX):c.1616C>T (p.Ala539Val) SNV Uncertain significance 953570 GRCh37: X:25022860-25022860
GRCh38: X:25004743-25004743
21 LOC109610631 , ARX NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del) Deletion Uncertain significance 969560 GRCh37: X:25031795-25031809
GRCh38: X:25013678-25013692
22 LOC109610631 , ARX NM_139058.3(ARX):c.437C>T (p.Ala146Val) SNV Uncertain significance 989377 GRCh37: X:25031675-25031675
GRCh38: X:25013558-25013558
23 ARX NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs) Insertion Uncertain significance 641421 rs1601945655 GRCh37: X:25022920-25022921
GRCh38: X:25004803-25004804
24 ARX and overlap with 1 gene(s) NC_000023.10:g.(?_25028377)_(25033854_?)dup Duplication Uncertain significance 643146 GRCh37: X:25028377-25033854
GRCh38: X:25010260-25015737
25 overlap with 4 genes NC_000023.10:g.(?_25013922)_(25025556_?)dup Duplication Uncertain significance 643147 GRCh37: X:25013922-25025556
GRCh38: X:24995805-25007439
26 ARX and overlap with 1 gene(s) NC_000023.10:g.(?_25022767)_(25033874_?)dup Duplication Uncertain significance 540227 GRCh37: X:25022767-25033874
GRCh38: X:25004650-25015757
27 ARX NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe) Indel Uncertain significance 565771 rs1569395505 GRCh37: X:25031637-25031638
GRCh38: X:25013520-25013521
28 ARX NM_139058.3(ARX):c.904G>C (p.Ala302Pro) SNV Uncertain significance 568505 rs146224124 GRCh37: X:25031208-25031208
GRCh38: X:25013091-25013091
29 ARX NM_139058.3(ARX):c.87C>G (p.Ile29Met) SNV Uncertain significance 573520 rs148694386 GRCh37: X:25033768-25033768
GRCh38: X:25015651-25015651
30 ARX NM_139058.3(ARX):c.1520_1560del (p.Ala507fs) Deletion Uncertain significance 574104 rs1569393457 GRCh37: X:25022916-25022956
GRCh38: X:25004799-25004839
31 ARX NM_139058.3(ARX):c.766G>C (p.Ala256Pro) SNV Uncertain significance 576797 rs769056463 GRCh37: X:25031346-25031346
GRCh38: X:25013229-25013229
32 ARX NM_139058.3(ARX):c.769C>G (p.Arg257Gly) SNV Uncertain significance 579735 rs1475419182 GRCh37: X:25031343-25031343
GRCh38: X:25013226-25013226
33 ARX NM_139058.3(ARX):c.1226C>A (p.Pro409Gln) SNV Uncertain significance 645341 rs1601946603 GRCh37: X:25025450-25025450
GRCh38: X:25007333-25007333
34 LOC109610631 , ARX NM_139058.3(ARX):c.411A>C (p.Glu137Asp) SNV Uncertain significance 653677 rs1601948681 GRCh37: X:25031701-25031701
GRCh38: X:25013584-25013584
35 ARX NM_139058.3(ARX):c.586G>C (p.Gly196Arg) SNV Uncertain significance 660203 rs1287749285 GRCh37: X:25031526-25031526
GRCh38: X:25013409-25013409
36 ARX NM_139058.3(ARX):c.1300_1302GCC[10] (p.Ala438_Ala440dup) Microsatellite Uncertain significance 589872 rs398124508 GRCh37: X:25025355-25025356
GRCh38: X:25007238-25007239
37 ARX NM_139058.3(ARX):c.158C>G (p.Pro53Arg) SNV Uncertain significance 663519 rs1329228660 GRCh37: X:25033697-25033697
GRCh38: X:25015580-25015580
38 ARX NM_139058.3(ARX):c.1579A>T (p.Arg527Ter) SNV Uncertain significance 663628 rs1601945626 GRCh37: X:25022897-25022897
GRCh38: X:25004780-25004780
39 ARX NM_139058.3(ARX):c.611G>T (p.Arg204Leu) SNV Uncertain significance 664053 rs755745002 GRCh37: X:25031501-25031501
GRCh38: X:25013384-25013384
40 LOC109610631 , ARX NM_139058.3(ARX):c.454G>A (p.Ala152Thr) SNV Uncertain significance 157758 rs587783201 GRCh37: X:25031658-25031658
GRCh38: X:25013541-25013541
41 ARX NM_139058.3(ARX):c.1388G>A (p.Ser463Asn) SNV Uncertain significance 540218 rs763950769 GRCh37: X:25025288-25025288
GRCh38: X:25007171-25007171
42 LOC109610631 , ARX NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del) Deletion Uncertain significance 540220 rs1470521514 GRCh37: X:25031771-25031791
GRCh38: X:25013654-25013674
43 ARX NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del) Deletion Uncertain significance 540221 rs1556055511 GRCh37: X:25031348-25031410
GRCh38: X:25013231-25013293
44 LOC109610631 , ARX NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) Deletion Uncertain significance 96454 rs398124510 GRCh37: X:25031648-25031671
GRCh38: X:25013531-25013554
45 ARX NM_139058.3(ARX):c.223T>G (p.Phe75Val) SNV Uncertain significance 377131 rs999545482 GRCh37: X:25031889-25031889
GRCh38: X:25013772-25013772
46 ARX NM_139058.3(ARX):c.509G>A (p.Ser170Asn) SNV Uncertain significance 473012 rs1556056051 GRCh37: X:25031603-25031603
GRCh38: X:25013486-25013486
47 LOC109610631 , ARX NM_139058.3(ARX):c.306_308GGC[4] (p.Ala110_Ala115del) Microsatellite Uncertain significance 473008 rs387906492 GRCh37: X:25031777-25031794
GRCh38: X:25013660-25013677
48 ARX NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) SNV Uncertain significance 1006158 GRCh37: X:25025490-25025490
GRCh38: X:25007373-25007373
49 ARX NM_139058.3(ARX):c.535G>C (p.Gly179Arg) SNV Uncertain significance 1009217 GRCh37: X:25031577-25031577
GRCh38: X:25013460-25013460
50 ARX NM_139058.3(ARX):c.659_664GCACCG[3] (p.220_221GT[3]) Microsatellite Uncertain significance 234664 rs876661147 GRCh37: X:25031441-25031442
GRCh38: X:25013324-25013325

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related:

72
# Symbol AA change Variation ID SNP ID
1 ARX p.Leu33Pro VAR_015669 rs28936077
2 ARX p.Gly286Ser VAR_015671 rs28935479

Expression for Mental Retardation, X-Linked, with or Without Seizures,...

Search GEO for disease gene expression data for Mental Retardation, X-Linked, with or Without Seizures, Arx-Related.

Pathways for Mental Retardation, X-Linked, with or Without Seizures,...

GO Terms for Mental Retardation, X-Linked, with or Without Seizures,...

Sources for Mental Retardation, X-Linked, with or Without Seizures,...

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
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