ECTD10A
MCID: ECT061
MIFTS: 44

Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant (ECTD10A)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

MalaCards integrated aliases for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

Name: Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant 56 12 73 13 71
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia 58 29 6
Ectd10a 56 12 73
Ectodermal Dysplasia Hypohidrotic Autosomal Dominant 52 73
Hed 56 73
Dysplasia, Ectodermal, Type 10a, Hypohidrotic/hair/nail, Autosomal Dominant 39
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Syndrome 6
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant; Hed 56
Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant 56
Hypohidrotic Ectodermal Dysplasia Autosomal Dominant 52
Autosomal Dominant Anhidrotic Ectodermal Dysplasia 58
Ectodermal Dysplasia 3, Anhidrotic 43
Dysplasia, Ectodermal, Type 3 39
Ectodermal Dysplasia 10a 12
Ectodermal Dysplasia 3 73
Ad-Hed 58
Eda3 73
Ed3 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant hypohidrotic ectodermal dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (x-linked form )
allelic disorder to autosomal recessive form


HPO:

31
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0111663
OMIM 56 129490
OMIM Phenotypic Series 56 PS305100
MeSH 43 D053359
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 72 C0265331
Orphanet 58 ORPHA1810
UMLS 71 C3888065

Summaries for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

OMIM : 56 Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). (129490)

MalaCards based summary : Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant, also known as autosomal dominant hypohidrotic ectodermal dysplasia, is related to clouston syndrome and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. An important gene associated with Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are Cytokine Signaling in Immune system and NF-kappa B signaling pathway. Affiliated tissues include skin, eye and adrenal gland, and related phenotypes are thin skin and hypohidrosis

Disease Ontology : 12 A hypohidrotic ectodermal dysplasia that has material basis in heterozygous mutation in EDAR on chromosome 2q13.

UniProtKB/Swiss-Prot : 73 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal dominant condition characterized by hypotrichosis, abnormal or missing teeth, and hypohidrosis due to the absence of sweat glands.

Related Diseases for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Diseases related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 clouston syndrome 31.8 EDARADD EDAR
2 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.7 TRAF6 KDF1 EDARADD EDAR
3 hypohidrotic ectodermal dysplasia autosomal recessive 31.3 EDARADD EDAR
4 anodontia 29.7 EDARADD EDAR
5 anhidrosis 29.7 EDARADD EDAR
6 incontinentia pigmenti 29.5 TRAF6 EDAR
7 ectodermal dysplasia 29.1 TRAF6 KDF1 EDARADD EDAR
8 hypotrichosis 28.8 KDF1 EDARADD EDAR
9 tooth agenesis 28.8 KDF1 EDARADD EDAR
10 witkop syndrome 12.1
11 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.9
12 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.9
13 ectodermal dysplasia and immunodeficiency 1 11.7
14 hypermobile ehlers-danlos syndrome 11.6
15 ectodermal dysplasia and immunodeficiency 2 11.5
16 hypohidrotic ectodermal dysplasia with immunodeficiency 11.5
17 ectodermal dysplasia 1, hypohidrotic, x-linked 11.2
18 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.2
19 ehlers-danlos syndrome, hypermobility type 11.1
20 hidrotic ectodermal dysplasia 2 10.3
21 ehlers-danlos syndrome 10.3
22 graft-versus-host disease 10.3
23 bacterial infectious disease 10.3
24 thrombocytopenia 10.3
25 hemolytic anemia 10.3
26 acute graft versus host disease 10.3
27 autoimmune disease 10.2
28 dengue virus 10.2
29 dengue disease 10.2
30 dengue hemorrhagic fever 10.2
31 immune deficiency disease 10.2
32 end stage renal failure 10.2
33 keratitis, hereditary 10.0
34 pheochromocytoma 10.0
35 triiodothyronine receptor auxiliary protein 10.0
36 colorectal adenocarcinoma 10.0
37 adrenal gland pheochromocytoma 10.0
38 postural orthostatic tachycardia syndrome 10.0
39 osteopetrosis 10.0
40 keratosis 10.0
41 long qt syndrome 10.0
42 eye disease 10.0
43 herpes simplex 10.0
44 iridocyclitis 10.0
45 alopecia 10.0
46 lymphosarcoma 10.0
47 mast cell activation syndrome 10.0
48 multiple endocrine neoplasia 10.0
49 familial long qt syndrome 10.0
50 pompholyx 9.8 EDARADD EDAR

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:



Diseases related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant

Symptoms & Phenotypes for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Human phenotypes related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
2 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
3 hypotrichosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001006
4 hypodontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000668
5 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
6 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
7 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
8 abnormal fingernail morphology 31 frequent (33%) HP:0001231
9 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
10 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
11 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
12 malignant hyperthermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002047
13 depressed nasal ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000457
14 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
15 abnormality of the dentition 58 Very frequent (99-80%)
16 dry skin 31 HP:0000958
17 microdontia 31 HP:0000691
18 abnormality of the fingernails 58 Frequent (79-30%)
19 fine hair 31 HP:0002213
20 nail dysplasia 31 HP:0002164
21 slow-growing hair 31 HP:0002217
22 sparse eyelashes 31 HP:0000653
23 ectodermal dysplasia 31 HP:0000968
24 heat intolerance 31 HP:0002046
25 anodontia 31 HP:0000674
26 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Teeth:
microdontia
hypodontia
anodontia
misshapen teeth

Skin Nails Hair Hair:
hypotrichosis
fine, slow-growing hair
sparse eyebrows and eyelashes

Metabolic Features:
intolerance to heat and fever

Skin Nails Hair Skin:
hypohidrosis
smooth, thin, dry skin

Skin Nails Hair Nails:
onychodysplasia (40%)

Clinical features from OMIM:

129490

MGI Mouse Phenotypes related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.71 EDAR EDARADD KDF1 TRAF6
2 integument MP:0010771 9.56 EDAR EDARADD KDF1 TRAF6
3 digestive/alimentary MP:0005381 9.54 EDAR KDF1 TRAF6
4 hearing/vestibular/ear MP:0005377 9.5 EDARADD KDF1 TRAF6
5 limbs/digits/tail MP:0005371 9.46 EDAR EDARADD KDF1 TRAF6
6 pigmentation MP:0001186 9.13 EDAR EDARADD TRAF6
7 reproductive system MP:0005389 8.92 EDAR EDARADD KDF1 TRAF6

Drugs & Therapeutics for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Search Clinical Trials , NIH Clinical Center for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant

Cochrane evidence based reviews: ectodermal dysplasia 3, anhidrotic

Genetic Tests for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Genetic tests related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Autosomal Dominant Hypohidrotic Ectodermal Dysplasia 29 EDAR EDARADD

Anatomical Context for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

MalaCards organs/tissues related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

40
Skin, Eye, Adrenal Gland

Publications for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Articles related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

(show all 13)
# Title Authors PMID Year
1
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. 61 56
9545409 1998
2
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. 61 56
9375732 1997
3
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 56
20979233 2011
4
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 56
18231121 2008
5
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 6
17354266 2007
6
Hypohidrotic Ectodermal Dysplasia 6
20301291 2003
7
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 56
10431241 1999
8
Autosomal dominant ectodermal dysplasia. 56
3429615 1987
9
[Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia]. 61
28097853 2017
10
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia. 61
27168349 2017
11
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia. 61
24641098 2015
12
Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation. 61
18384562 2008
13
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families. 61
17125505 2006

Variations for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

ClinVar genetic disease variations for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

6 (show all 35) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EDAR NC_000002.11:g.(?_109513363)_(109522790_?)deldeletion Pathogenic 163325 2:109513363-109522790 2:108896907-108906334
2 EDAR NM_022336.3(EDAR):c.(?_509)_(803_?)+34deldeletion Pathogenic 228341 2:109526882-109529154 2:108910426-108912698
3 EDARADD NM_080738.4(EDARADD):c.335T>G (p.Leu112Arg)SNV Pathogenic 4189 rs121908116 1:236645666-236645666 1:236482366-236482366
4 EDAR NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)SNV Pathogenic 5852 rs121908452 2:109513638-109513638 2:108897182-108897182
5 EDAR NM_022336.4(EDAR):c.284del (p.Gly95fs)deletion Pathogenic 417939 rs1060499610 2:109545726-109545726 2:108929270-108929270
6 EDAR NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)SNV Pathogenic 449014 rs199544410 2:109524376-109524376 2:108907920-108907920
7 EDAR NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)SNV Pathogenic 569147 rs1432041144 2:109524348-109524348 2:108907892-108907892
8 EDAR NM_022336.4(EDAR):c.1169dup (p.Met391fs)duplication Pathogenic 579211 rs1558793621 2:109513540-109513541 2:108897084-108897085
9 EDAR NM_022336.4(EDAR):c.1089del (p.Tyr364fs)deletion Pathogenic 566967 rs1558793736 2:109513621-109513621 2:108897165-108897165
10 EDAR NM_022336.4(EDAR):c.1088del (p.Thr363fs)deletion Pathogenic 643058 2:109513622-109513622 2:108897166-108897166
11 EDAR NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer)deletion Pathogenic 532547 rs1553443360 2:109513516-109513517 2:108897060-108897061
12 EDAR NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)SNV Pathogenic/Likely pathogenic 5853 rs121908453 2:109513451-109513451 2:108896995-108896995
13 EDAR NM_022336.4(EDAR):c.1284T>A (p.Cys428Ter)SNV Likely pathogenic 267731 rs886041005 2:109513426-109513426 2:108896970-108896970
14 EDAR NM_022336.4(EDAR):c.175-2A>GSNV Likely pathogenic 572701 rs757233170 2:109545837-109545837 2:108929381-108929381
15 EDAR NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)SNV Likely pathogenic 463876 rs1310296844 2:109513578-109513578 2:108897122-108897122
16 EDAR NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr)SNV Likely pathogenic 463877 rs917638291 2:109513547-109513547 2:108897091-108897091
17 EDAR NM_022336.4(EDAR):c.1024+1G>ASNV Likely pathogenic 463874 rs1553444895 2:109522763-109522763 2:108906307-108906307
18 EDAR NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)SNV Likely pathogenic 532549 rs557166582 2:109545718-109545718 2:108929262-108929262
19 EDAR NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile)SNV Uncertain significance 463878 rs899642068 2:109513535-109513535 2:108897079-108897079
20 EDAR NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser)SNV Uncertain significance 657780 2:109513568-109513568 2:108897112-108897112
21 EDAR NM_022336.4(EDAR):c.275A>G (p.Asp92Gly)SNV Uncertain significance 570266 rs752810615 2:109545735-109545735 2:108929279-108929279
22 EDAR NM_022336.4(EDAR):c.108C>G (p.Tyr36Ter)SNV Uncertain significance 631823 rs758536902 2:109546642-109546642 2:108930186-108930186
23 EDAR NM_022336.4(EDAR):c.656-1G>ASNV Uncertain significance 631822 rs1558802058 2:109527307-109527307 2:108910851-108910851
24 EDAR NC_000002.11:g.(?_109367964)_(109579739_?)dupduplication Uncertain significance 657900 2:109367964-109579739 2:108751508-108963283
25 EDAR NC_000002.11:g.(?_109336043)_(109579739_?)dupduplication Uncertain significance 655229 2:109336043-109579739 2:108719587-108963283
26 EDAR NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)SNV Uncertain significance 330712 rs760731007 2:109546682-109546682 2:108930226-108930226
27 EDAR NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)SNV Uncertain significance 330711 rs375891208 2:109546604-109546604 2:108930148-108930148
28 EDAR NM_022336.4(EDAR):c.122C>A (p.Thr41Lys)SNV Uncertain significance 658733 2:109546628-109546628 2:108930172-108930172
29 EDAR NM_022336.4(EDAR):c.328G>A (p.Asp110Asn)SNV Uncertain significance 641915 2:109545682-109545682 2:108929226-108929226
30 EDAR NM_022336.4(EDAR):c.1061_1063AGA[1] (p.Lys355del)short repeat Uncertain significance 650219 2:109513644-109513646 2:108897188-108897190
31 EDAR NM_022336.4(EDAR):c.187G>A (p.Gly63Ser)SNV Uncertain significance 532550 rs764223500 2:109545823-109545823 2:108929367-108929367
32 EDAR NM_022336.4(EDAR):c.166C>T (p.Pro56Ser)SNV Uncertain significance 532546 rs1553448523 2:109546584-109546584 2:108930128-108930128
33 EDAR NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)SNV Uncertain significance 5851 rs121908451 2:109545751-109545751 2:108929295-108929295
34 EDAR NM_022336.4(EDAR):c.1017C>A (p.Val339=)SNV Likely benign 463873 rs201434694 2:109522771-109522771 2:108906315-108906315
35 EDAR NM_022336.4(EDAR):c.1209G>A (p.Thr403=)SNV Likely benign 463879 rs200198949 2:109513501-109513501 2:108897045-108897045

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant:

73
# Symbol AA change Variation ID SNP ID
1 EDAR p.Arg420Gln VAR_013450 rs121908453

Expression for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Search GEO for disease gene expression data for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant.

Pathways for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Pathways related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 TRAF6 EDARADD EDAR
2 10.81 TRAF6 EDARADD EDAR
3 10.43 EDARADD EDAR

GO Terms for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

Cellular components related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cortex GO:0005938 8.62 TRAF6 KDF1

Biological processes related to Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.54 KDF1 EDARADD EDAR
2 cell differentiation GO:0030154 9.43 KDF1 EDARADD EDAR
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.32 TRAF6 EDAR
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.16 EDARADD EDAR
5 positive regulation of NIK/NF-kappaB signaling GO:1901224 8.96 TRAF6 EDAR
6 odontogenesis of dentin-containing tooth GO:0042475 8.62 TRAF6 EDAR

Sources for Ectodermal Dysplasia 10a, Hypohidrotic/hair/nail Type, Autosomal...

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