CDG2M
MCID: CNG389
MIFTS: 41

Congenital Disorder of Glycosylation, Type Iim (CDG2M)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iim

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Iim:

Name: Congenital Disorder of Glycosylation, Type Iim 58 54 30 6 74
Congenital Disorder of Glycosylation Type Iim 12 54 60 76 15
Cdg2m 58 54 60 76
Epileptic Encephalopathy, Early Infantile, 22 58 12 76
Congenital Disorder of Glycosylation Type 2m 12 54 60
Slc35a2-Cdg 12 54 60
Cdg-Iim 54 60 76
Epileptic Encephalopathy, Early Infantile, 22; Eiee22 58 54
Cdg Syndrome Type Iim 54 60
Cdg Iim 58 76
Cdgiim 58 76
Eiee22 58 76
Glycosylation, Congenital Disorder of, Type Iim 41
Congenital Disorder of Glycosylation, X-Linked 13
Congenital Disorder of Glycosylation X-Linked 76
Congenital Disorder of Glycosylation 2m 76
Spasms, Infantile 45
Cdg Iim; Cdgiim 58

Characteristics:

Orphanet epidemiological data:

60
slc35a2-cdg
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
onset in infancy
males carry mutations in the somatic mosaic state
abnormal transferrin pattern tends to improve with age

Inheritance:
x-linked dominant
somatic mosaicism (in males)


HPO:

33
congenital disorder of glycosylation, type iim:
Inheritance somatic mosaicism x-linked dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iim

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 2M: A disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iim, also known as congenital disorder of glycosylation type iim, is related to slc35a2-congenital disorder of glycosylation and west syndrome, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iim is SLC35A2 (Solute Carrier Family 35 Member A2), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include brain, cerebellum and skin, and related phenotypes are gastroesophageal reflux and nystagmus

Disease Ontology : 12 A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has material basis in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 356961Disease definitionSLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).Visit the Orphanet disease page for more resources.

OMIM : 58 Congenital disorder of glycosylation type IIm, or early infantile epileptic encephalopathy-22, is an X-linked dominant severe neurologic disorder characterized by infantile-onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech. Brain malformations include cerebral and cerebellar atrophy. Additionally, some patients had dysmorphic features or coarse facies (Ng et al., 2013; Kodera et al., 2013). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (300896)

Related Diseases for Congenital Disorder of Glycosylation, Type Iim

Diseases in the Congenital Disorder of Glycosylation, Type Ii family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ij
Congenital Disorder of Glycosylation, Type Ih Congenital Disorder of Glycosylation, Type Ik
Congenital Disorder of Glycosylation, Type Il Congenital Disorder of Glycosylation, Type Ie
Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Iih Congenital Disorder of Glycosylation, Type Iig
Congenital Disorder of Glycosylation, Type in Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iii
Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Ir
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Iik
Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Iw Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Iin Congenital Disorder of Glycosylation, Type Iio
Congenital Disorder of Glycosylation, Type Iip Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type Iim via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 slc35a2-congenital disorder of glycosylation 12.0
2 west syndrome 11.9
3 epilepsy 9.8
4 encephalopathy 9.8
5 congenital disorder of glycosylation, type iif 9.4 B4GALT1 SLC35A1 SLC35A2
6 congenital disorder of glycosylation, type in 9.1 ALG3 ALG9 SLC35A1

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type Iim:



Diseases related to Congenital Disorder of Glycosylation, Type Iim

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iim

Human phenotypes related to Congenital Disorder of Glycosylation, Type Iim:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 gastroesophageal reflux 33 occasional (7.5%) HP:0002020
2 nystagmus 33 HP:0000639
3 seizures 33 HP:0001250
4 coarse facial features 33 HP:0000280
5 global developmental delay 33 HP:0001263
6 wide nasal bridge 33 HP:0000431
7 thick vermilion border 33 HP:0012471
8 microcephaly 33 HP:0000252
9 thick eyebrow 33 HP:0000574
10 cerebellar hypoplasia 33 HP:0001321
11 epileptic encephalopathy 33 HP:0200134
12 hypsarrhythmia 33 HP:0002521
13 open mouth 33 HP:0000194
14 recurrent infections 33 HP:0002719
15 rod-cone dystrophy 33 HP:0000510
16 generalized hypotonia 33 HP:0001290
17 hypoplasia of the corpus callosum 33 HP:0002079
18 cerebral atrophy 33 HP:0002059
19 delayed myelination 33 HP:0012448
20 ocular flutter 33 HP:0031931

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
thick eyebrows
retinitis pigmentosa
ocular flutter

Head And Neck Head:
microcephaly

Immunology:
recurrent infections

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
gastroesophageal reflux (1 patient)

Skeletal Limbs:
shortened extremities

Laboratory Abnormalities:
abnormal serum transferrin pattern (in some patients)
loss of galactose and sialic acid from multiple branches of complex type n-glycans (in some patients)

Neurologic Central Nervous System:
seizures
epileptic encephalopathy
hypsarrhythmia
cerebral atrophy
delayed myelination
more
Head And Neck Mouth:
open mouth
thick lips

Head And Neck Nose:
broad nasal bridge

Head And Neck Face:
coarse facies
dysmorphic features
maxillary prognathism

Genitourinary Kidneys:
acute nephrotic syndrome (1 patient)

Hematology:
coagulation defects (1 patient)

Clinical features from OMIM:

300896

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Iim:


seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iim

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Iim

Cochrane evidence based reviews: spasms, infantile

Genetic Tests for Congenital Disorder of Glycosylation, Type Iim

Genetic tests related to Congenital Disorder of Glycosylation, Type Iim:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iim 30 SLC35A2

Anatomical Context for Congenital Disorder of Glycosylation, Type Iim

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Iim:

42
Brain, Cerebellum, Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iim

Articles related to Congenital Disorder of Glycosylation, Type Iim:

# Title Authors Year
1
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. ( 23561849 )
2013
2
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. ( 24115232 )
2013
3
[Infantile spasms (infantile myoclonic encephalopathy with hypsarrhythmia)]. ( 1667588 )
1991

Variations for Congenital Disorder of Glycosylation, Type Iim

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Iim:

76
# Symbol AA change Variation ID SNP ID
1 SLC35A2 p.Val331Ile VAR_069773 rs587776961
2 SLC35A2 p.Ser213Phe VAR_071699 rs587777436

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Iim:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC35A2 SLC35A2: c.15_91+48delinsA indel Pathogenic rs1557044030 GRCh37 Chromosome X, 48768775: 48768899
2 SLC35A2 SLC35A2: c.15_91+48delinsA indel Pathogenic rs1557044030 GRCh38 Chromosome X, 48911498: 48911622
3 SLC35A2 NM_001042498.2(SLC35A2): c.991G> A (p.Val331Ile) single nucleotide variant Likely pathogenic rs587776961 GRCh37 Chromosome X, 48762195: 48762195
4 SLC35A2 NM_001042498.2(SLC35A2): c.991G> A (p.Val331Ile) single nucleotide variant Likely pathogenic rs587776961 GRCh38 Chromosome X, 48904918: 48904918
5 SLC35A2 NM_001042498.2(SLC35A2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776962 GRCh37 Chromosome X, 48768911: 48768911
6 SLC35A2 NM_001042498.2(SLC35A2): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776962 GRCh38 Chromosome X, 48911634: 48911634
7 SLC35A2 NM_001042498.2(SLC35A2): c.433_434delTA (p.Tyr145Profs) deletion Pathogenic rs587777434 GRCh37 Chromosome X, 48762752: 48762753
8 SLC35A2 NM_001042498.2(SLC35A2): c.433_434delTA (p.Tyr145Profs) deletion Pathogenic rs587777434 GRCh38 Chromosome X, 48905475: 48905476
9 SLC35A2 NM_001042498.2(SLC35A2): c.972delT (p.Phe324Leufs) deletion Pathogenic rs587777435 GRCh37 Chromosome X, 48762214: 48762214
10 SLC35A2 NM_001042498.2(SLC35A2): c.972delT (p.Phe324Leufs) deletion Pathogenic rs587777435 GRCh38 Chromosome X, 48904937: 48904937
11 SLC35A2 NM_001042498.2(SLC35A2): c.638C> T (p.Ser213Phe) single nucleotide variant Pathogenic rs587777436 GRCh37 Chromosome X, 48762548: 48762548
12 SLC35A2 NM_001042498.2(SLC35A2): c.638C> T (p.Ser213Phe) single nucleotide variant Pathogenic rs587777436 GRCh38 Chromosome X, 48905271: 48905271
13 SLC35A2 NM_005660.2(SLC35A2): c.800A> G (p.Tyr267Cys) single nucleotide variant Likely pathogenic rs869312860 GRCh38 Chromosome X, 48905109: 48905109
14 SLC35A2 NM_005660.2(SLC35A2): c.800A> G (p.Tyr267Cys) single nucleotide variant Likely pathogenic rs869312860 GRCh37 Chromosome X, 48762386: 48762386
15 SLC35A2 NM_001042498.2(SLC35A2): c.747G> A (p.Gly249=) single nucleotide variant Likely benign rs144809041 GRCh38 Chromosome X, 48905162: 48905162
16 SLC35A2 NM_001042498.2(SLC35A2): c.747G> A (p.Gly249=) single nucleotide variant Likely benign rs144809041 GRCh37 Chromosome X, 48762439: 48762439
17 SLC35A2 NM_001042498.2(SLC35A2): c.12T> G (p.Val4=) single nucleotide variant Benign/Likely benign rs782793880 GRCh37 Chromosome X, 48768902: 48768902
18 SLC35A2 NM_001042498.2(SLC35A2): c.12T> G (p.Val4=) single nucleotide variant Benign/Likely benign rs782793880 GRCh38 Chromosome X, 48911625: 48911625
19 SLC35A2 NM_005660.2(SLC35A2): c.617_620delTCGT (p.Val206Glyfs) deletion Pathogenic rs1057518719 GRCh37 Chromosome X, 48762566: 48762569
20 SLC35A2 NM_005660.2(SLC35A2): c.617_620delTCGT (p.Val206Glyfs) deletion Pathogenic rs1057518719 GRCh38 Chromosome X, 48905289: 48905292
21 SLC35A2 NM_001042498.2(SLC35A2): c.561C> T (p.Ala187=) single nucleotide variant Benign/Likely benign rs370394797 GRCh38 Chromosome X, 48905348: 48905348
22 SLC35A2 NM_001042498.2(SLC35A2): c.561C> T (p.Ala187=) single nucleotide variant Benign/Likely benign rs370394797 GRCh37 Chromosome X, 48762625: 48762625
23 SLC35A2 NM_001042498.2(SLC35A2): c.43C> A (p.Pro15Thr) single nucleotide variant Benign rs55719932 GRCh37 Chromosome X, 48768871: 48768871
24 SLC35A2 NM_001042498.2(SLC35A2): c.43C> A (p.Pro15Thr) single nucleotide variant Benign rs55719932 GRCh38 Chromosome X, 48911594: 48911594
25 SLC35A2 NM_001042498.2(SLC35A2): c.990C> T (p.Leu330=) single nucleotide variant Benign/Likely benign rs146079657 GRCh38 Chromosome X, 48904919: 48904919
26 SLC35A2 NM_001042498.2(SLC35A2): c.990C> T (p.Leu330=) single nucleotide variant Benign/Likely benign rs146079657 GRCh37 Chromosome X, 48762196: 48762196
27 SLC35A2 NM_001042498.2(SLC35A2): c.236G> T (p.Gly79Val) single nucleotide variant Uncertain significance rs1057524438 GRCh37 Chromosome X, 48767129: 48767129
28 SLC35A2 NM_001042498.2(SLC35A2): c.236G> T (p.Gly79Val) single nucleotide variant Uncertain significance rs1057524438 GRCh38 Chromosome X, 48909852: 48909852
29 SLC35A2 NM_001042498.2(SLC35A2): c.1064_1069delCCTCCG (p.Ala355_Ser356del) deletion Conflicting interpretations of pathogenicity rs782439562 GRCh37 Chromosome X, 48762117: 48762122
30 SLC35A2 NM_001042498.2(SLC35A2): c.1064_1069delCCTCCG (p.Ala355_Ser356del) deletion Conflicting interpretations of pathogenicity rs782439562 GRCh38 Chromosome X, 48904840: 48904845
31 SLC35A2 NM_001042498.2(SLC35A2): c.426+287_775del deletion Pathogenic rs1557042824 GRCh37 Chromosome X, 48762411: 48763382
32 SLC35A2 NM_001042498.2(SLC35A2): c.426+287_775del deletion Pathogenic rs1557042824 GRCh38 Chromosome X, 48905137: 48906108
33 SLC35A2 NM_001042498.2(SLC35A2): c.535G> A (p.Val179Ile) single nucleotide variant Uncertain significance rs1060503676 GRCh38 Chromosome X, 48905374: 48905374
34 SLC35A2 NM_001042498.2(SLC35A2): c.535G> A (p.Val179Ile) single nucleotide variant Uncertain significance rs1060503676 GRCh37 Chromosome X, 48762651: 48762651
35 SLC35A2 NM_001042498.2(SLC35A2): c.274+5G> A single nucleotide variant Uncertain significance rs1060503677 GRCh37 Chromosome X, 48767086: 48767086
36 SLC35A2 NM_001042498.2(SLC35A2): c.274+5G> A single nucleotide variant Uncertain significance rs1060503677 GRCh38 Chromosome X, 48909809: 48909809
37 SLC35A2 NM_005660.2(SLC35A2): c.245G> T (p.Cys82Phe) single nucleotide variant Uncertain significance rs1557043622 GRCh38 Chromosome X, 48909843: 48909843
38 SLC35A2 NM_005660.2(SLC35A2): c.245G> T (p.Cys82Phe) single nucleotide variant Uncertain significance rs1557043622 GRCh37 Chromosome X, 48767120: 48767120
39 SLC35A2 NM_001042498.2(SLC35A2): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs140079332 GRCh37 Chromosome X, 48762228: 48762228
40 SLC35A2 NM_001042498.2(SLC35A2): c.958G> T (p.Val320Leu) single nucleotide variant Uncertain significance rs140079332 GRCh38 Chromosome X, 48904951: 48904951
41 SLC35A2 NM_001042498.2(SLC35A2): c.102C> T (p.Arg34=) single nucleotide variant Likely benign rs977233420 GRCh38 Chromosome X, 48909986: 48909986
42 SLC35A2 NM_001042498.2(SLC35A2): c.102C> T (p.Arg34=) single nucleotide variant Likely benign rs977233420 GRCh37 Chromosome X, 48767263: 48767263
43 SLC35A2 NM_001042498.2(SLC35A2): c.30C> G (p.Thr10=) single nucleotide variant Likely benign rs373480204 GRCh37 Chromosome X, 48768884: 48768884
44 SLC35A2 NM_001042498.2(SLC35A2): c.30C> G (p.Thr10=) single nucleotide variant Likely benign rs373480204 GRCh38 Chromosome X, 48911607: 48911607
45 SLC35A2 NM_001042498.2(SLC35A2): c.942C> T (p.Arg314=) single nucleotide variant Likely benign rs143797243 GRCh38 Chromosome X, 48904967: 48904967
46 SLC35A2 NM_001042498.2(SLC35A2): c.942C> T (p.Arg314=) single nucleotide variant Likely benign rs143797243 GRCh37 Chromosome X, 48762244: 48762244
47 SLC35A2 NM_001042498.2(SLC35A2): c.275-10_275-8delTCC deletion Likely benign rs1364325599 GRCh37 Chromosome X, 48763828: 48763830
48 SLC35A2 NM_001042498.2(SLC35A2): c.275-10_275-8delTCC deletion Likely benign rs1364325599 GRCh38 Chromosome X, 48906551: 48906553
49 SLC35A2 NM_001042498.2(SLC35A2): c.1078G> A (p.Val360Ile) single nucleotide variant Benign/Likely benign rs138190020 GRCh37 Chromosome X, 48762108: 48762108
50 SLC35A2 NM_001042498.2(SLC35A2): c.1078G> A (p.Val360Ile) single nucleotide variant Benign/Likely benign rs138190020 GRCh38 Chromosome X, 48904831: 48904831

Expression for Congenital Disorder of Glycosylation, Type Iim

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Iim.

Pathways for Congenital Disorder of Glycosylation, Type Iim

Pathways related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 ALG3 ALG9 B4GALT1 SLC35A1
2
Show member pathways
12.14 ALG3 ALG9 B4GALT1 SLC35A1
3
Show member pathways
11.62 ALG3 ALG9 SLC35A1
5
Show member pathways
10.59 ALG3 ALG9 B4GALT1

GO Terms for Congenital Disorder of Glycosylation, Type Iim

Cellular components related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.55 ALG3 ALG9 B4GALT1 SLC35A1 SLC35A2
2 Golgi apparatus GO:0005794 9.43 B4GALT1 SLC35A1 SLC35A2
3 Golgi membrane GO:0000139 9.13 B4GALT1 SLC35A1 SLC35A2
4 integral component of Golgi membrane GO:0030173 8.62 SLC35A1 SLC35A2

Biological processes related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.43 ALG3 ALG9 B4GALT1
2 carbohydrate metabolic process GO:0005975 9.4 B4GALT1 SLC35A1
3 carbohydrate transport GO:0008643 9.37 SLC35A1 SLC35A2
4 mannosylation GO:0097502 9.32 ALG3 ALG9
5 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.16 ALG3 ALG9
6 galactose metabolic process GO:0006012 8.96 B4GALT1 SLC35A2
7 pyrimidine nucleotide-sugar transmembrane transport GO:0090481 8.62 SLC35A1 SLC35A2

Molecular functions related to Congenital Disorder of Glycosylation, Type Iim according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.13 ALG3 ALG9 B4GALT1
2 pyrimidine nucleotide-sugar transmembrane transporter activity GO:0015165 8.62 SLC35A1 SLC35A2

Sources for Congenital Disorder of Glycosylation, Type Iim

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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