Weyers Acrofacial Dysostosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: WYR002 MIFTS: 35	Weyers Acrofacial Dysostosis Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Weyers Acrofacial Dysostosis

MalaCards integrated aliases for Weyers Acrofacial Dysostosis:

Name: Weyers Acrofacial Dysostosis ⁵⁷ ⁵³ ²⁵ ⁵⁹ ⁷⁵ ⁷³

Curry-Hall Syndrome ⁵⁷ ²⁵ ⁵⁹ ⁷⁵ ²⁹ ⁶

Weyers Acrodental Dysostosis ²⁵ ⁵⁹ ¹³ ⁴⁰

Acrodental Dysostosis of Weyers ⁵⁷ ²⁵ ⁷⁵

Acrofacial Dysostosis, Weyers Type ⁵⁹ ⁷⁵

Wad ⁵⁷ ⁷⁵

Acrofacial Dysostosis of Weyers ⁵³

Curry Hall Syndrome ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

acrofacial dysostosis, weyers type
Inheritance: Autosomal dominant; Age of onset: Neonatal;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
allelic to ellis-van creveld syndrome

HPO:

³²

weyers acrofacial dysostosis:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of skull and face bones

Mandibulofacial dysostosis

Orphanet: ⁵⁹

Rare bone diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 193530

Orphanet ⁵⁹ ORPHA952

MESH via Orphanet ⁴⁵ C536695

UMLS via Orphanet ⁷⁴ C0457013

ICD10 via Orphanet ³⁴ Q75.4

MedGen ⁴² C0457013

MeSH ⁴⁴ D004413

SNOMED-CT via HPO ⁶⁹ 263681008 44593008 64969001 more

UMLS ⁷³ C0457013

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Summaries for Weyers Acrofacial Dysostosis

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 952Disease definitionAcrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Weyers Acrofacial Dysostosis, also known as curry-hall syndrome, is related to acrofacial dysostosis and dysostosis. An important gene associated with Weyers Acrofacial Dysostosis is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways/superpathways are Signaling by Hedgehog and Hedgehog Pathway. Affiliated tissues include bone, heart and skin, and related phenotypes are nail dystrophy and hypoplastic toenails

Genetics Home Reference : ²⁵ Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).

OMIM : ⁵⁷ Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. Ellis-van Creveld syndrome is a similar disorder, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease (summary by Howard et al., 1997). (193530)

UniProtKB/Swiss-Prot : ⁷⁵ Acrofacial dysostosis, Weyers type: An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.

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Related Diseases for Weyers Acrofacial Dysostosis

Diseases related to Weyers Acrofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	acrofacial dysostosis	29.9	EVC EVC2
2	dysostosis	29.0	EVC EVC2
3	whiplash	10.6
4	cervicitis	10.1
5	aging	9.9
6	chronic pain	9.9
7	polydactyly, postaxial, type a1	9.6	EVC EVC2
8	clouston syndrome	9.5	EVC EVC2
9	short-rib thoracic dysplasia 6 with or without polydactyly	9.5	EVC EVC2
10	atrioventricular septal defect	9.4	EVC EVC2
11	ellis-van creveld syndrome	9.3	EVC EVC2
12	asphyxiating thoracic dystrophy	9.2	EVC EVC2

Graphical network of the top 20 diseases related to Weyers Acrofacial Dysostosis:

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Symptoms & Phenotypes for Weyers Acrofacial Dysostosis

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypotelorism

Skeletal Feet:
postaxial polydactyly

Growth Height:
short stature, mild

Head And Neck Mouth:
multiple frenula

Skeletal Skull:
cleft of mandibular symphysis (infancy)

Skeletal Hands:
postaxial polydactyly
fifth finger clinodactyly
short hands
mild brachydactyly

Skin Nails Hair Nails:
hypoplastic nails
dysplastic nails

Head And Neck Ears:
prominent antihelix

Head And Neck Teeth:
single central incisor
conical teeth (permanent teeth)
irregular, small, or absent incisors (permanent teeth)

Clinical features from OMIM:

193530

Human phenotypes related to Weyers Acrofacial Dysostosis:

⁵⁹ ³² (show all 26)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nail dystrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0008404
2	hypoplastic toenails ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001800
3	abnormality of the fingernails ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001231
4	clinodactyly of the 5th finger ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004209
5	small nail ⁵⁹ ³²		Very frequent (99-80%)	HP:0001792
6	small hand ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0200055
7	abnormality of the antihelix ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009738
8	hypodontia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000668
9	advanced eruption of teeth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006288
10	postaxial hand polydactyly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001162
11	facial cleft ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0002006
12	single median maxillary incisor ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0006315
13	overlapping fingers ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010557
14	toenail dysplasia ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0100797
15	conical tooth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000698
16	mild short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0003502
17	abnormality of the dentition ⁵⁹		Very frequent (99-80%)
18	short palm ³²			HP:0004279
19	brachydactyly ³²			HP:0001156
20	nail dysplasia ³²			HP:0002164
21	hypotelorism ³²			HP:0000601
22	postaxial foot polydactyly ³²			HP:0001830
23	abnormality of oral frenula ⁵⁹		Very frequent (99-80%)
24	abnormality of the toenails ⁵⁹		Very frequent (99-80%)
25	prominent antihelix ³²			HP:0000395
26	abnormal oral frenulum morphology ³²	hallmark (90%)		HP:0000190

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Drugs & Therapeutics for Weyers Acrofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Weyers Acrofacial Dysostosis

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Genetic Tests for Weyers Acrofacial Dysostosis

Genetic tests related to Weyers Acrofacial Dysostosis:

#	Genetic test	Affiliating Genes
1	Curry-Hall Syndrome ²⁹	EVC EVC2

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Anatomical Context for Weyers Acrofacial Dysostosis

MalaCards organs/tissues related to Weyers Acrofacial Dysostosis:

⁴¹

Bone, Heart, Skin

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Publications for Weyers Acrofacial Dysostosis

Articles related to Weyers Acrofacial Dysostosis:

#	Title	Authors	Year
1	Ellis-van Creveld and Weyers acrofacial dysostosis. ( 17942330 )	Rihani F.B.	2007
2	A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. ( 16404586 )	Ye X....Bian Z.	2006

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Genes for Weyers Acrofacial Dysostosis

Genes related to Weyers Acrofacial Dysostosis (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	1700	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷	10700184 7628126 23220543
2	EVC2	EvC Ciliary Complex Subunit 2	Protein Coding	1367.87	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)	16404586 19810119 23220543 (more) 18182642

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Variations for Weyers Acrofacial Dysostosis

UniProtKB/Swiss-Prot genetic disease variations for Weyers Acrofacial Dysostosis:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	EVC	p.Ser307Pro	VAR_009944	rs121908426

ClinVar genetic disease variations for Weyers Acrofacial Dysostosis:

⁶

(show top 50) (show all 433)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	EVC2	NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs)	deletion	Pathogenic	rs587776568	GRCh37	Chromosome 4, 5564709: 5564709
2	EVC2	NM_147127.4(EVC2): c.3793delC (p.Leu1265Tyrfs)	deletion	Pathogenic	rs587776568	GRCh38	Chromosome 4, 5562982: 5562982
3	EVC	NM_153717.2(EVC): c.919T> C (p.Ser307Pro)	single nucleotide variant	Pathogenic	rs121908426	GRCh37	Chromosome 4, 5747048: 5747048
4	EVC	NM_153717.2(EVC): c.919T> C (p.Ser307Pro)	single nucleotide variant	Pathogenic	rs121908426	GRCh38	Chromosome 4, 5745321: 5745321
5	EVC2	EVC2, 3797T-G, LEU1266TER	single nucleotide variant	Pathogenic
6	EVC2	EVC2, 3797T-A, LEU1266TER	single nucleotide variant	Pathogenic
7	EVC2	EVC2, GLY1269TER	single nucleotide variant	Pathogenic
8	EVC	NM_153717.2(EVC): c.1346C> A (p.Thr449Lys)	single nucleotide variant	Benign	rs2302075	GRCh37	Chromosome 4, 5755542: 5755542
9	EVC	NM_153717.2(EVC): c.1346C> A (p.Thr449Lys)	single nucleotide variant	Benign	rs2302075	GRCh38	Chromosome 4, 5753815: 5753815
10	EVC	NM_153717.2(EVC): c.1320T> A (p.Phe440Leu)	single nucleotide variant	Benign	rs60582583	GRCh37	Chromosome 4, 5755516: 5755516
11	EVC	NM_153717.2(EVC): c.1320T> A (p.Phe440Leu)	single nucleotide variant	Benign	rs60582583	GRCh38	Chromosome 4, 5753789: 5753789
12	EVC; EVC2	NM_147127.4(EVC2): c.122C> A (p.Pro41His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs544397395	GRCh37	Chromosome 4, 5710119: 5710119
13	EVC; EVC2	NM_147127.4(EVC2): c.122C> A (p.Pro41His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs544397395	GRCh38	Chromosome 4, 5708392: 5708392
14	EVC	NM_153717.2(EVC): c.8G> C (p.Arg3Pro)	single nucleotide variant	Uncertain significance	rs756852655	GRCh37	Chromosome 4, 5713115: 5713115
15	EVC	NM_153717.2(EVC): c.8G> C (p.Arg3Pro)	single nucleotide variant	Uncertain significance	rs756852655	GRCh38	Chromosome 4, 5711388: 5711388
16	EVC2	NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141287105	GRCh37	Chromosome 4, 5642347: 5642347
17	EVC2	NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs141287105	GRCh38	Chromosome 4, 5640620: 5640620
18	EVC	NM_153717.2(EVC): c.1826G> A (p.Arg609Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41269557	GRCh37	Chromosome 4, 5795384: 5795384
19	EVC	NM_153717.2(EVC): c.1826G> A (p.Arg609Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41269557	GRCh38	Chromosome 4, 5793657: 5793657
20	EVC	NM_153717.2(EVC): c.1855G> A (p.Val619Ile)	single nucleotide variant	Benign/Likely benign	rs111293777	GRCh37	Chromosome 4, 5795413: 5795413
21	EVC	NM_153717.2(EVC): c.1855G> A (p.Val619Ile)	single nucleotide variant	Benign/Likely benign	rs111293777	GRCh38	Chromosome 4, 5793686: 5793686
22	EVC2	NM_147127.4(EVC2): c.2151C> T (p.His717=)	single nucleotide variant	Benign/Likely benign	rs144584049	GRCh37	Chromosome 4, 5624614: 5624614
23	EVC2	NM_147127.4(EVC2): c.2151C> T (p.His717=)	single nucleotide variant	Benign/Likely benign	rs144584049	GRCh38	Chromosome 4, 5622887: 5622887
24	EVC	NM_153717.2(EVC): c.284A> G (p.Asp95Gly)	single nucleotide variant	Benign/Likely benign	rs41269547	GRCh37	Chromosome 4, 5721084: 5721084
25	EVC	NM_153717.2(EVC): c.284A> G (p.Asp95Gly)	single nucleotide variant	Benign/Likely benign	rs41269547	GRCh38	Chromosome 4, 5719357: 5719357
26	EVC2	NM_147127.4(EVC2): c.3557+10G> A	single nucleotide variant	Benign/Likely benign	rs116218656	GRCh37	Chromosome 4, 5570161: 5570161
27	EVC2	NM_147127.4(EVC2): c.3557+10G> A	single nucleotide variant	Benign/Likely benign	rs116218656	GRCh38	Chromosome 4, 5568434: 5568434
28	EVC	NM_153717.2(EVC): c.473C> G (p.Ser158Cys)	single nucleotide variant	Benign/Likely benign	rs150284356	GRCh37	Chromosome 4, 5733240: 5733240
29	EVC	NM_153717.2(EVC): c.473C> G (p.Ser158Cys)	single nucleotide variant	Benign/Likely benign	rs150284356	GRCh38	Chromosome 4, 5731513: 5731513
30	EVC	NM_153717.2(EVC): c.469C> G (p.Pro157Ala)	single nucleotide variant	Likely benign	rs146729456	GRCh37	Chromosome 4, 5733236: 5733236
31	EVC	NM_153717.2(EVC): c.469C> G (p.Pro157Ala)	single nucleotide variant	Likely benign	rs146729456	GRCh38	Chromosome 4, 5731509: 5731509
32	EVC	NM_153717.2(EVC): c.769C> T (p.Leu257=)	single nucleotide variant	Benign	rs6446393	GRCh37	Chromosome 4, 5743509: 5743509
33	EVC	NM_153717.2(EVC): c.769C> T (p.Leu257=)	single nucleotide variant	Benign	rs6446393	GRCh38	Chromosome 4, 5741782: 5741782
34	EVC	NM_153717.2(EVC): c.772T> C (p.Tyr258His)	single nucleotide variant	Benign	rs6414624	GRCh37	Chromosome 4, 5743512: 5743512
35	EVC	NM_153717.2(EVC): c.772T> C (p.Tyr258His)	single nucleotide variant	Benign	rs6414624	GRCh38	Chromosome 4, 5741785: 5741785
36	EVC	NM_153717.2(EVC): c.780G> A (p.Lys260=)	single nucleotide variant	Benign	rs41269555	GRCh37	Chromosome 4, 5743520: 5743520
37	EVC	NM_153717.2(EVC): c.780G> A (p.Lys260=)	single nucleotide variant	Benign	rs41269555	GRCh38	Chromosome 4, 5741793: 5741793
38	EVC	NM_153717.2(EVC): c.1127C> T (p.Ala376Val)	single nucleotide variant	Benign/Likely benign	rs142535134	GRCh37	Chromosome 4, 5754591: 5754591
39	EVC	NM_153717.2(EVC): c.1127C> T (p.Ala376Val)	single nucleotide variant	Benign/Likely benign	rs142535134	GRCh38	Chromosome 4, 5752864: 5752864
40	EVC2	NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala)	single nucleotide variant	Benign/Likely benign	rs73063795	GRCh37	Chromosome 4, 5642327: 5642327
41	EVC2	NM_147127.4(EVC2): c.1384A> G (p.Thr462Ala)	single nucleotide variant	Benign/Likely benign	rs73063795	GRCh38	Chromosome 4, 5640600: 5640600
42	EVC2	NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu)	single nucleotide variant	Benign/Likely benign	rs60809236	GRCh38	Chromosome 4, 5584657: 5584657
43	EVC2	NM_147127.4(EVC2): c.3023C> T (p.Ser1008Leu)	single nucleotide variant	Benign/Likely benign	rs60809236	GRCh37	Chromosome 4, 5586384: 5586384
44	EVC2	NM_147127.4(EVC2): c.2235A> G (p.Glu745=)	single nucleotide variant	Benign	rs60121553	GRCh38	Chromosome 4, 5622803: 5622803
45	EVC2	NM_147127.4(EVC2): c.2235A> G (p.Glu745=)	single nucleotide variant	Benign	rs60121553	GRCh37	Chromosome 4, 5624530: 5624530
46	EVC2	NM_147127.4(EVC2): c.2046+5A> G	single nucleotide variant	Benign	rs6850875	GRCh38	Chromosome 4, 5625744: 5625744
47	EVC2	NM_147127.4(EVC2): c.2046+5A> G	single nucleotide variant	Benign	rs6850875	GRCh37	Chromosome 4, 5627471: 5627471
48	EVC2	NM_147127.4(EVC2): c.675A> G (p.Gly225=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74930168	GRCh38	Chromosome 4, 5689188: 5689188
49	EVC2	NM_147127.4(EVC2): c.675A> G (p.Gly225=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs74930168	GRCh37	Chromosome 4, 5690915: 5690915
50	EVC; EVC2	NM_147127.4(EVC2): c.52C> T (p.Leu18Phe)	single nucleotide variant	Benign	rs6820907	GRCh38	Chromosome 4, 5708462: 5708462

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Expression for Weyers Acrofacial Dysostosis

Search GEO for disease gene expression data for Weyers Acrofacial Dysostosis.

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Pathways for Weyers Acrofacial Dysostosis

Pathways related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by Hedgehog ⁶⁶ Show member pathways Activation of SMO ⁶⁶ Hedgehog off' state ⁶⁶ Hedgehog on' state ⁶⁶	11.49	EVC EVC2
2	Hedgehog Pathway ⁷² Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶ Hedgehog signaling events mediated by Gli proteins ¹ Hedgehog signaling pathway ³⁷ Hedgehog Signaling Pathway ¹	10.73	EVC EVC2

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GO Terms for Weyers Acrofacial Dysostosis

Cellular components related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.26	EVC EVC2
2	cilium	GO:0005929	9.16	EVC EVC2
3	ciliary membrane	GO:0060170	8.96	EVC EVC2
4	plasma membrane protein complex	GO:0098797	8.62	EVC EVC2

Biological processes related to Weyers Acrofacial Dysostosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	smoothened signaling pathway	GO:0007224	8.62	EVC EVC2

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Sources for Weyers Acrofacial Dysostosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia