MRD13
MCID: MNT143
MIFTS: 38

Mental Retardation, Autosomal Dominant 13 (MRD13)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 13

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 13:

Name: Mental Retardation, Autosomal Dominant 13 58 76 30 13 6 74
Mrd13 58 12 76
Mental Retardation, Autosomal Dominant 13, with Neuronal Migration Defects 58 12
Autosomal Dominant Non-Syndromic Intellectual Disability 13 12 15
Mental Retardation Autosomal Dominant 13 with Neuronal Migration Defects 76
Mental Retardation, Autosomal Dominant, Type 13 41
Autosomal Dominant Mental Retardation 13 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
most patients have de novo mutations
dysmorphic features are mild or variable


HPO:

33
mental retardation, autosomal dominant 13:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 13

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 13: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia.

MalaCards based summary : Mental Retardation, Autosomal Dominant 13, also known as mrd13, is related to charcot-marie-tooth disease, axonal, type 2o and chromosome 15q24 deletion syndrome. An important gene associated with Mental Retardation, Autosomal Dominant 13 is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1), and among its related pathways/superpathways are Gene Expression and RNA Polymerase II Transcription Initiation And Promoter Clearance. Related phenotypes are abnormal facial shape and microcephaly

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31.

OMIM : 58 MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013). (614563)

Related Diseases for Mental Retardation, Autosomal Dominant 13

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Dominant 27
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 32
Mental Retardation, Autosomal Recessive 48 Mental Retardation, Autosomal Recessive 49
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 55
Mental Retardation, Autosomal Dominant 44 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Dominant 49 Mental Retardation, Autosomal Recessive 61
Mental Retardation, Autosomal Dominant 50 Mental Retardation, Autosomal Dominant 51
Mental Retardation, Autosomal Dominant 52 Mental Retardation, Autosomal Dominant 53
Mental Retardation, Autosomal Dominant 54 Mental Retardation, Autosomal Dominant 56
Mental Retardation, Autosomal Dominant 57 Mental Retardation, Autosomal Recessive 63
Mental Retardation, Autosomal Recessive 64 Mental Retardation, Autosomal Dominant 58
Mental Retardation, Autosomal Recessive 65 Mental Retardation, Autosomal Recessive 66
Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Dominant 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2o 10.0 DYNC1H1 LOC107984661
2 chromosome 15q24 deletion syndrome 9.9 DYNC1H1 SIN3A
3 autosomal dominant non-syndromic intellectual disability 9.6 DYNC1H1 SAP18

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 13

Human phenotypes related to Mental Retardation, Autosomal Dominant 13:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 33 occasional (7.5%) HP:0001999
2 microcephaly 33 occasional (7.5%) HP:0000252
3 abnormality of the foot 33 occasional (7.5%) HP:0001760
4 cerebellar hypoplasia 33 occasional (7.5%) HP:0001321
5 small hand 33 occasional (7.5%) HP:0200055
6 hypoplasia of the corpus callosum 33 occasional (7.5%) HP:0002079
7 peripheral axonal neuropathy 33 occasional (7.5%) HP:0003477
8 hypoplasia of the brainstem 33 occasional (7.5%) HP:0002365
9 spastic tetraplegia 33 very rare (1%) HP:0002510
10 intellectual disability 33 HP:0001249
11 muscular hypotonia 33 HP:0001252
12 gait disturbance 33 HP:0001288
13 prominent forehead 33 HP:0011220
14 downslanted palpebral fissures 33 HP:0000494
15 hyporeflexia 33 HP:0001265
16 pachygyria 33 HP:0001302
17 plagiocephaly 33 HP:0001357
18 focal-onset seizure 33 HP:0007359

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
focal seizures
mental retardation (in some patients)
abnormal gait
cerebellar hypoplasia (in some patients)
thin corpus callosum (in some patients)
more
Neurologic Peripheral Nervous System:
hyporeflexia (in some patients)
axonal neuropathy (in some patients)

Skeletal Feet:
foot deformities (in some patients)

Skeletal Hands:
small hands (in some patients)

Head And Neck Head:
microcephaly (in some patients)
prominent forehead (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (in some patients)

Head And Neck Face:
facial dysmorphism, mild (in some patients)

Clinical features from OMIM:

614563

GenomeRNAi Phenotypes related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased TP53 mRNA expression GR00389-S-6 8.62 HDAC1 SIN3A

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 13

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Dominant 13

Genetic Tests for Mental Retardation, Autosomal Dominant 13

Genetic tests related to Mental Retardation, Autosomal Dominant 13:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 13 30 DYNC1H1

Anatomical Context for Mental Retardation, Autosomal Dominant 13

Publications for Mental Retardation, Autosomal Dominant 13

Variations for Mental Retardation, Autosomal Dominant 13

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 13:

76
# Symbol AA change Variation ID SNP ID
1 DYNC1H1 p.His3822Pro VAR_065085 rs387906739
2 DYNC1H1 p.Glu1518Lys VAR_067823 rs387906740
3 DYNC1H1 p.Lys129Ile VAR_070580
4 DYNC1H1 p.Arg1567Gln VAR_070582 rs797044901
5 DYNC1H1 p.Arg1962Cys VAR_070583 rs879253881
6 DYNC1H1 p.Lys3241Thr VAR_070584
7 DYNC1H1 p.Lys3336Asn VAR_070585 rs397509410
8 DYNC1H1 p.Arg3344Gln VAR_070586 rs397509412
9 DYNC1H1 p.Arg3384Gln VAR_070587 rs397509411

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 13:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYNC1H1 NM_001376.4(DYNC1H1): c.3603G> T (p.Arg1201Ser) single nucleotide variant Pathogenic rs727505393 GRCh37 Chromosome 14, 102463410: 102463410
2 DYNC1H1 NM_001376.4(DYNC1H1): c.3603G> T (p.Arg1201Ser) single nucleotide variant Pathogenic rs727505393 GRCh38 Chromosome 14, 101997073: 101997073
3 DYNC1H1 NM_001376.4(DYNC1H1): c.926G> A (p.Arg309His) single nucleotide variant Likely pathogenic rs797045177 GRCh37 Chromosome 14, 102446852: 102446852
4 DYNC1H1 NM_001376.4(DYNC1H1): c.926G> A (p.Arg309His) single nucleotide variant Likely pathogenic rs797045177 GRCh38 Chromosome 14, 101980515: 101980515
5 DYNC1H1 NM_001376.4(DYNC1H1): c.1706G> C (p.Arg569Pro) single nucleotide variant Pathogenic rs797045178 GRCh38 Chromosome 14, 101985931: 101985931
6 DYNC1H1 NM_001376.4(DYNC1H1): c.1706G> C (p.Arg569Pro) single nucleotide variant Pathogenic rs797045178 GRCh37 Chromosome 14, 102452268: 102452268
7 DYNC1H1 NM_001376.4(DYNC1H1): c.7918G> A (p.Glu2640Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs797045535 GRCh37 Chromosome 14, 102483494: 102483494
8 DYNC1H1 NM_001376.4(DYNC1H1): c.7918G> A (p.Glu2640Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs797045535 GRCh38 Chromosome 14, 102017157: 102017157
9 DYNC1H1 NM_001376.4(DYNC1H1): c.11183G> C (p.Arg3728Pro) single nucleotide variant Likely pathogenic rs797045529 GRCh37 Chromosome 14, 102505162: 102505162
10 DYNC1H1 NM_001376.4(DYNC1H1): c.11183G> C (p.Arg3728Pro) single nucleotide variant Likely pathogenic rs797045529 GRCh38 Chromosome 14, 102038825: 102038825
11 DYNC1H1 NM_001376.4(DYNC1H1): c.4700G> T (p.Arg1567Leu) single nucleotide variant Likely pathogenic rs797044901 GRCh38 Chromosome 14, 102002694: 102002694
12 DYNC1H1 NM_001376.4(DYNC1H1): c.4700G> T (p.Arg1567Leu) single nucleotide variant Likely pathogenic rs797044901 GRCh37 Chromosome 14, 102469031: 102469031
13 DYNC1H1 NM_001376.4(DYNC1H1): c.11465A> C (p.His3822Pro) single nucleotide variant Pathogenic rs387906739 GRCh37 Chromosome 14, 102505753: 102505753
14 DYNC1H1 NM_001376.4(DYNC1H1): c.11465A> C (p.His3822Pro) single nucleotide variant Pathogenic rs387906739 GRCh38 Chromosome 14, 102039416: 102039416
15 DYNC1H1 NM_001376.4(DYNC1H1): c.4552G> A (p.Glu1518Lys) single nucleotide variant Pathogenic rs387906740 GRCh37 Chromosome 14, 102468883: 102468883
16 DYNC1H1 NM_001376.4(DYNC1H1): c.4552G> A (p.Glu1518Lys) single nucleotide variant Pathogenic rs387906740 GRCh38 Chromosome 14, 102002546: 102002546
17 DYNC1H1 NM_001376.4(DYNC1H1): c.10008G> T (p.Lys3336Asn) single nucleotide variant Pathogenic rs397509410 GRCh37 Chromosome 14, 102498733: 102498733
18 DYNC1H1 NM_001376.4(DYNC1H1): c.10008G> T (p.Lys3336Asn) single nucleotide variant Pathogenic rs397509410 GRCh38 Chromosome 14, 102032396: 102032396
19 DYNC1H1 NM_001376.4(DYNC1H1): c.10151G> A (p.Arg3384Gln) single nucleotide variant Pathogenic rs397509411 GRCh37 Chromosome 14, 102499473: 102499473
20 DYNC1H1 NM_001376.4(DYNC1H1): c.10151G> A (p.Arg3384Gln) single nucleotide variant Pathogenic rs397509411 GRCh38 Chromosome 14, 102033136: 102033136
21 DYNC1H1 NM_001376.4(DYNC1H1): c.10031G> A (p.Arg3344Gln) single nucleotide variant Pathogenic rs397509412 GRCh37 Chromosome 14, 102498756: 102498756
22 DYNC1H1 NM_001376.4(DYNC1H1): c.10031G> A (p.Arg3344Gln) single nucleotide variant Pathogenic rs397509412 GRCh38 Chromosome 14, 102032419: 102032419
23 DYNC1H1 NM_001376.4(DYNC1H1): c.10573C> T (p.Arg3525Cys) single nucleotide variant Pathogenic rs869312693 GRCh37 Chromosome 14, 102500472: 102500472
24 DYNC1H1 NM_001376.4(DYNC1H1): c.10573C> T (p.Arg3525Cys) single nucleotide variant Pathogenic rs869312693 GRCh38 Chromosome 14, 102034135: 102034135
25 DYNC1H1 NM_001376.4(DYNC1H1): c.12332A> G (p.Lys4111Arg) single nucleotide variant Uncertain significance rs1060499574 GRCh38 Chromosome 14, 102042440: 102042440
26 DYNC1H1 NM_001376.4(DYNC1H1): c.12332A> G (p.Lys4111Arg) single nucleotide variant Uncertain significance rs1060499574 GRCh37 Chromosome 14, 102508777: 102508777
27 DYNC1H1 NM_001376.4(DYNC1H1): c.4868G> A (p.Arg1623Gln) single nucleotide variant Likely pathogenic rs1064796765 GRCh38 Chromosome 14, 102002950: 102002950
28 DYNC1H1 NM_001376.4(DYNC1H1): c.4868G> A (p.Arg1623Gln) single nucleotide variant Likely pathogenic rs1064796765 GRCh37 Chromosome 14, 102469287: 102469287
29 DYNC1H1 NM_001376.4(DYNC1H1): c.6122T> C (p.Met2041Thr) single nucleotide variant Likely pathogenic rs1555409836 GRCh38 Chromosome 14, 102009987: 102009987
30 DYNC1H1 NM_001376.4(DYNC1H1): c.6122T> C (p.Met2041Thr) single nucleotide variant Likely pathogenic rs1555409836 GRCh37 Chromosome 14, 102476324: 102476324
31 DYNC1H1 NM_001376.4(DYNC1H1): c.9959C> T (p.Ala3320Val) single nucleotide variant Likely pathogenic rs1555411305 GRCh37 Chromosome 14, 102498684: 102498684
32 DYNC1H1 NM_001376.4(DYNC1H1): c.9959C> T (p.Ala3320Val) single nucleotide variant Likely pathogenic rs1555411305 GRCh38 Chromosome 14, 102032347: 102032347
33 DYNC1H1 NM_001376.4(DYNC1H1): c.10172C> T (p.Pro3391Leu) single nucleotide variant Likely pathogenic rs1555411378 GRCh37 Chromosome 14, 102499494: 102499494
34 DYNC1H1 NM_001376.4(DYNC1H1): c.10172C> T (p.Pro3391Leu) single nucleotide variant Likely pathogenic rs1555411378 GRCh38 Chromosome 14, 102033157: 102033157
35 DYNC1H1 NM_001376.4(DYNC1H1): c.10280A> C (p.Gln3427Pro) single nucleotide variant Likely pathogenic rs1555411394 GRCh37 Chromosome 14, 102499688: 102499688
36 DYNC1H1 NM_001376.4(DYNC1H1): c.10280A> C (p.Gln3427Pro) single nucleotide variant Likely pathogenic rs1555411394 GRCh38 Chromosome 14, 102033351: 102033351
37 DYNC1H1 NM_001376.4(DYNC1H1): c.4042G> A (p.Glu1348Lys) single nucleotide variant Likely pathogenic rs1047509819 GRCh38 Chromosome 14, 102000367: 102000367
38 DYNC1H1 NM_001376.4(DYNC1H1): c.4042G> A (p.Glu1348Lys) single nucleotide variant Likely pathogenic rs1047509819 GRCh37 Chromosome 14, 102466704: 102466704
39 DYNC1H1 NM_001376.4(DYNC1H1): c.1544C> T (p.Ala515Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 102452106: 102452106
40 DYNC1H1 NM_001376.4(DYNC1H1): c.1544C> T (p.Ala515Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 101985769: 101985769
41 DYNC1H1 NM_001376.4(DYNC1H1): c.4808G> C (p.Arg1603Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 102469227: 102469227
42 DYNC1H1 NM_001376.4(DYNC1H1): c.4808G> C (p.Arg1603Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 102002890: 102002890

Expression for Mental Retardation, Autosomal Dominant 13

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 13.

Pathways for Mental Retardation, Autosomal Dominant 13

Pathways related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.39 GTF2B HDAC1 SAP18 SIN3A TBP
2
Show member pathways
12.58 GTF2B HDAC1 SAP18 SIN3A TBP
3 11.94 GTF2B HDAC1 TBP
4
Show member pathways
11.84 HDAC1 SAP18 SIN3A
5
Show member pathways
11.69 HDAC1 SAP18 SIN3A
6 11.66 GTF2B HDAC1 SIN3A TBP
7 11.53 HDAC1 SIN3A
8 11.51 HDAC1 SIN3A
9 11.46 HDAC1 TBP
10 11.43 HDAC1 SAP18 SIN3A
11 11.33 HDAC1 SIN3A
12 11.31 HDAC1 TBP
13 11.26 HDAC1 TBP
14 11.25 HDAC1 SAP18 SIN3A
15 11.15 HDAC1 SAP18 SIN3A
16 11.04 HDAC1 SIN3A
17 10.88 GTF2B TBP
18
Show member pathways
10.52 HDAC1 SAP18 SIN3A

GO Terms for Mental Retardation, Autosomal Dominant 13

Cellular components related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcriptional repressor complex GO:0017053 9.37 HDAC1 SIN3A
2 transcription factor complex GO:0005667 9.33 HDAC1 SIN3A TBP
3 transcription factor TFIID complex GO:0005669 9.32 GTF2B TBP
4 histone deacetylase complex GO:0000118 9.26 HDAC1 SAP18
5 Sin3 complex GO:0016580 8.96 HDAC1 SIN3A
6 transcriptional preinitiation complex GO:0097550 8.62 GTF2B TBP

Biological processes related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 snRNA transcription by RNA polymerase II GO:0042795 9.37 GTF2B TBP
2 regulation of megakaryocyte differentiation GO:0045652 9.32 HDAC1 SIN3A
3 negative regulation of nucleic acid-templated transcription GO:1903507 9.26 SAP18 SIN3A
4 RNA polymerase II preinitiation complex assembly GO:0051123 9.16 GTF2B TBP
5 protein deacetylation GO:0006476 8.96 HDAC1 SIN3A
6 histone deacetylation GO:0016575 8.8 HDAC1 SAP18 SIN3A

Molecular functions related to Mental Retardation, Autosomal Dominant 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription corepressor activity GO:0003714 9.58 HDAC1 SAP18 SIN3A
2 transcription regulatory region sequence-specific DNA binding GO:0000976 9.48 HDAC1 SIN3A
3 promoter-specific chromatin binding GO:1990841 9.46 GTF2B HDAC1
4 transcription factor binding GO:0008134 9.46 GTF2B HDAC1 SIN3A TBP
5 repressing transcription factor binding GO:0070491 9.43 HDAC1 TBP
6 RNA polymerase II core promoter sequence-specific DNA binding GO:0000979 9.37 GTF2B TBP
7 core promoter binding GO:0001047 9.32 GTF2B TBP
8 protein deacetylase activity GO:0033558 9.26 HDAC1 SIN3A
9 histone deacetylase activity GO:0004407 9.13 HDAC1 SAP18 SIN3A
10 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 HDAC1 SIN3A TBP

Sources for Mental Retardation, Autosomal Dominant 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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