Poland Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PLN006 MIFTS: 45	Poland Syndrome Categories: Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Poland Syndrome

MalaCards integrated aliases for Poland Syndrome:

Name: Poland Syndrome ⁵⁷ ¹² ⁷⁶ ⁵³ ²⁵ ⁴⁴ ¹⁵ ⁷³

Poland Syndactyly ⁵⁷ ⁵³ ²⁵

Poland Sequence ⁵⁷ ⁵³ ²⁵

Poland Anomaly ⁵⁷ ⁵³ ²⁵

Poland's Syndrome ⁵³ ²⁵

Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand ⁵³

Unilateral Defect of Pectoralis Major and Syndactyly of the Hand ²⁵

Poland's Syndactyly ¹²

Poland's Anomaly ²⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
all features are unilateral
occurs on right side in 75% of cases
three times more common in males
pedigrees compatible with autosomal dominant inheritance have been reported
poland syndrome can be associated with moebius syndrome
subclavian artery supply disruption in embryogenesis has been suggested as etiology

HPO:

³²

poland syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Congenital malformations of the musculoskeletal system, not elsewhere classified

Other congenital malformations of musculoskeletal system

External Ids:

OMIM ⁵⁷ 173800

Disease Ontology ¹² DOID:12961

ICD10 ³³ Q79.8

MeSH ⁴⁴ D011045

NCIt ⁵⁰ C85017

SNOMED-CT ⁶⁸ 38371006

MedGen ⁴² C0032357

SNOMED-CT via HPO ⁶⁹ 263681008 204878001 204888000 more

UMLS ⁷³ C0032357

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Summaries for Poland Syndrome

NIH Rare Diseases : ⁵³ Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic. It tends to occur on the right side and is more common in boys than girls. Treatment typically involves surgical correction of the chest wall deformities.

MalaCards based summary : Poland Syndrome, also known as poland syndactyly, is related to craniofrontonasal dysplasia-poland anomaly syndrome and breasts and/or nipples, aplasia or hypoplasia of, 1. An important gene associated with Poland Syndrome is REV3L (REV3 Like, DNA Directed Polymerase Zeta Catalytic Subunit), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Acyl chain remodelling of PE. Affiliated tissues include liver, bone and skin, and related phenotypes are short neck and finger syndactyly

Genetics Home Reference : ²⁵ Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.

OMIM : ⁵⁷ Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported. (173800)

Wikipedia : ⁷⁶ Poland syndrome is a birth defect characterized by an underdeveloped chest muscle and short webbed... more...

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Related Diseases for Poland Syndrome

Diseases related to Poland Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)

#	Related Disease	Score	Top Affiliating Genes
1	craniofrontonasal dysplasia-poland anomaly syndrome	12.2
2	breasts and/or nipples, aplasia or hypoplasia of, 1	11.1
3	craniofrontonasal syndrome	11.1
4	breasts and/or nipples, aplasia or hypoplasia of, 2	11.1
5	dextrocardia	10.1
6	chromosome 16p13.3 deletion syndrome, proximal	10.0	VPS13B LRP4
7	frontonasal dysplasia 1	9.9
8	primary microcephaly	9.9
9	microcephaly	9.9
10	breast reconstruction	9.8
11	adams-oliver syndrome 1	9.8
12	oliver syndrome	9.8
13	adams-oliver syndrome	9.8
14	breast cancer	9.7
15	muscular atrophy	9.7
16	klippel-feil syndrome	9.7
17	dysostosis	9.7
18	hydranencephaly	9.7
19	carey-fineman-ziter syndrome	9.6
20	myopathy, congenital	9.6
21	myopathy	9.6
22	moebius syndrome	9.6
23	pectus excavatum	9.6
24	pernicious anemia	9.6
25	renal hypodysplasia/aplasia 1	9.6
26	neuroblastoma	9.6
27	hyperinsulinemic hypoglycemia, familial, 3	9.6
28	hyperinsulinemic hypoglycemia, familial, 5	9.6
29	hyperinsulinemic hypoglycemia, familial, 4	9.6
30	pulmonary hypertension	9.6
31	hemangioma	9.6
32	leukemia	9.6
33	spinal muscular atrophy	9.6
34	ductal carcinoma in situ	9.6
35	myelomeningocele	9.6
36	hypogonadotropic hypogonadism	9.6
37	hemopericardium	9.6
38	pericardial effusion	9.6
39	pneumothorax	9.6
40	mitral valve stenosis	9.6
41	hypogonadism	9.6
42	hyperinsulinism	9.6
43	hidradenitis suppurativa	9.6
44	hidradenitis	9.6
45	iron metabolism disease	9.6
46	thoracic outlet syndrome	9.6
47	situs inversus	9.6
48	in situ carcinoma	9.6
49	aberrant subclavian artery	9.6
50	germ cells tumors	9.6

Graphical network of the top 20 diseases related to Poland Syndrome:

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Symptoms & Phenotypes for Poland Syndrome

Symptoms via clinical synopsis from OMIM:

⁵⁷

Chest Ribs Sternum Clavicles And Scapulae:
sprengel anomaly
hypoplastic ribs
fused ribs

Skeletal Hands:
unilateral brachydactyly
unilateral syndactyly
unilateral oligodactyly

Chest External Features:
unilateral hypoplasia or absence of pectoralis major muscle
absence of pectoralis minor muscle

Muscle Soft Tissue:
hypoplasia of latissimus dorsi muscle
hypoplasia of serratus anterior muscle
hypoplasia of infraspinatus muscle
hypoplasia of supraspinatus muscle
hypoplasia of deltoid muscle

Skeletal Spine:
hemivertebrae

Cardiovascular Heart:
dextrocardia (in left-sided poland sequence)

Chest Breasts:
unilateral hypoplasia or absence of nipple
unilateral hypoplasia or absence of areola
unilateral absence of breast

Clinical features from OMIM:

173800

Human phenotypes related to Poland Syndrome:

³² (show top 50) (show all 59)

#	Description	HPO Frequency	HPO Source Accession
1	short neck ³²	occasional (7.5%)	HP:0000470
2	finger syndactyly ³²	occasional (7.5%)	HP:0006101
3	diabetes mellitus ³²	occasional (7.5%)	HP:0000819
4	scoliosis ³²	occasional (7.5%)	HP:0002650
5	kyphosis ³²	occasional (7.5%)	HP:0002808
6	pectus carinatum ³²	occasional (7.5%)	HP:0000768
7	abnormality of the ulna ³²	occasional (7.5%)	HP:0002997
8	microcephaly ³²	occasional (7.5%)	HP:0000252
9	cone-shaped epiphysis ³²	occasional (7.5%)	HP:0010579
10	reduced bone mineral density ³²	occasional (7.5%)	HP:0004349
11	cryptorchidism ³²	occasional (7.5%)	HP:0000028
12	aplasia/hypoplasia of the nipples ³²	hallmark (90%)	HP:0006709
13	low posterior hairline ³²	occasional (7.5%)	HP:0002162
14	abnormal dermatoglyphics ³²	occasional (7.5%)	HP:0007477
15	myopia ³²	occasional (7.5%)	HP:0000545
16	atrial septal defect ³²	occasional (7.5%)	HP:0001631
17	sprengel anomaly ³²	occasional (7.5%)	HP:0000912
18	hypospadias ³²	occasional (7.5%)	HP:0000047
19	small hand ³²	frequent (33%)	HP:0200055
20	vesicoureteral reflux ³²	occasional (7.5%)	HP:0000076
21	renal hypoplasia ³²	frequent (33%)	HP:0000089
22	hand polydactyly ³²	occasional (7.5%)	HP:0001161
23	split hand ³²	occasional (7.5%)	HP:0001171
24	acute leukemia ³²	occasional (7.5%)	HP:0002488
25	spina bifida occulta ³²	occasional (7.5%)	HP:0003298
26	hemivertebrae ³²	occasional (7.5%)	HP:0002937
27	rib fusion ³²		HP:0000902
28	missing ribs ³²	occasional (7.5%)	HP:0000921
29	abnormality of the liver ³²	occasional (7.5%)	HP:0001392
30	neoplasm of the breast ³²	occasional (7.5%)	HP:0100013
31	encephalocele ³²	occasional (7.5%)	HP:0002084
32	dextrocardia ³²	occasional (7.5%)	HP:0001651
33	congenital diaphragmatic hernia ³²	occasional (7.5%)	HP:0000776
34	aplasia/hypoplasia of the thumb ³²	occasional (7.5%)	HP:0009601
35	abnormality of the lower limb ³²	occasional (7.5%)	HP:0002814
36	absent hand ³²	occasional (7.5%)	HP:0004050
37	aplasia/hypoplasia of the radius ³²	occasional (7.5%)	HP:0006501
38	asymmetry of the thorax ³²	hallmark (90%)	HP:0001555
39	retinal hamartoma ³²	occasional (7.5%)	HP:0009594
40	aplasia of the pectoralis major muscle ³²	hallmark (90%)	HP:0009751
41	aplasia/hypoplasia of the breasts ³²	hallmark (90%)	HP:0010311
42	abnormality of the humerus ³²	occasional (7.5%)	HP:0003063
43	syndactyly ³²		HP:0001159
44	unilateral brachydactyly ³²	frequent (33%)	HP:0006008
45	unilateral hypoplasia of pectoralis major muscle ³²		HP:0011959
46	short ribs ³²	occasional (7.5%)	HP:0000773
47	ureterocele ³²	occasional (7.5%)	HP:0000070
48	duplicated collecting system ³²	occasional (7.5%)	HP:0000081
49	abnormality of the outer ear ³²	occasional (7.5%)	HP:0000356
50	abnormality of the breast ³²		HP:0000769

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Drugs & Therapeutics for Poland Syndrome

Search Clinical Trials , NIH Clinical Center for Poland Syndrome

Cochrane evidence based reviews: poland syndrome

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Genetic Tests for Poland Syndrome

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Anatomical Context for Poland Syndrome

MalaCards organs/tissues related to Poland Syndrome:

⁴¹

Liver, Bone, Skin, Spleen, Retina

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Publications for Poland Syndrome

Articles related to Poland Syndrome:

(show top 50) (show all 153)

#	Title	Authors	Year
1	Comparison of objective and subjective evaluation of breast symmetrization results in patients with Poland syndrome. ( 29513249 )	Kasielska-Trojan A....Antoszewski B.	2018
2	Anaesthesia for chest wall reconstruction in a patient with Poland syndrome: CARE-compliant case report and literature review. ( 29793431 )	Gui L....Mei W.	2018
3	Poland Syndrome. ( 29298145 )		2018
4	Poland syndrome and pneumothorax: the compelling evidence of an association. ( 30292324 )	Afonso M...Cordeiro CR	2018
5	Controversies in Poland Syndrome: Alternative Diagnoses in Patients With Congenital Pectoral Muscle Deficiency. ( 29033291 )	Baas M...van Nieuwenhoven CA	2018
6	Successful use of adipose-derived mesenchymal stem cells to correct a male breast affected by Poland Syndrome: a case report. ( 30002805 )	Christopoulos A...Gazouli M	2018
7	Correcting Poland Syndrome with a Custom-Made Silicone Implant: Contribution of Three-Dimensional Computer-Aided Design Reconstruction. ( 30045173 )	Chavoin JP...Chaput B	2018
8	Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment. ( 30078491 )	Romanini MV...Torre M	2018
9	The value of full-body skin examination: Poland syndrome diagnosed as an incidental finding. ( 30168176 )	Bazewicz CG...Foulke GT	2018
10	Poland syndrome accompanied by internal iliac artery supply disruption sequence: a case report. ( 30360754 )	Gonda K...Kono K	2018
11	Liver exstrophy in a neonate with Poland syndrome. ( 28545812 )	Sinopidis X....Georgiou G.	2017
12	Congenital hyperinsulinism and Poland syndrome in association with 10p13-14 duplication. ( 28458900 )	Giri D....Senniappan S.	2017
13	Modified Ravitch Procedure for Left Poland Syndrome Combined With Pectus Excavatum. ( 28935331 )	CortAcs-JuliA!n G....Merino Rajme J.A.	2017
14	Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection? ( 29234256 )		2017
15	Poland Syndrome with Ipsilateral Hypoplasia of Gluteal Muscles and Contralateral Hidradenitis Suppurativa. ( 29657625 )		2017
16	Poland syndrome: a case report. ( 28775114 )		2017
17	Body Image Disorders and Surgical Timing in Patients Affected by Poland Syndrome: Data Analysis of 58 Case Studies. ( 27018681 )	Baldelli I....Romanini M.V.	2016
18	Bipolar Latissimus Dorsi Transfer through a Single Incision: First Key-Step in Poland Syndrome Chest Deformity. ( 27622115 )	Watfa W....Raffoul W.	2016
19	Assessment of copy number variations in 120 patients with Poland syndrome. ( 27884122 )	Vaccari C.M....Puliti A.	2016
20	Isolated left pectoralis major muscle hypoplasia in Poland syndrome. ( 26823450 )	Perrotta S....Zubrytska Y.	2016
21	Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome. ( 27348639 )		2016
22	Unilateral hypertransparency on chest radiograph: the congenital Poland Syndrome. ( 28009035 )		2016
23	Poland Syndrome: Use of Vertical Expandable Prosthetic Titanium Rib System before Walking Age-A Case Report. ( 28824998 )		2016
24	Free gracilis flap for chest wall reconstruction in male patient with Poland syndrome after implant failure. ( 27833290 )	Cherubino M...Valdatta L	2016
25	Mobius syndrome and poland syndrome presenting together in a single patient. ( 25834693 )	Chopan M....Laub D.	2015
26	Integrated algorithm for reconstruction of complex forms of Poland syndrome: 20-year outcomes. ( 26159469 )	Majdak-Paredes E.J....Fatah F.	2015
27	Clinical analysis of 113 patients with Poland syndrome. ( 25633462 )	Yiyit N....A9ksA1z S.	2015
28	Previous Information About Poland Syndrome Should Be Reviewed. ( 26522562 )	Eroglu A....Altuntas B.	2015
29	eComment. Could this be a first depiction of Poland syndrome? ( 25791966 )	Protopapas A.D.	2015
30	SPINAL MUSCULAR ATROPHY TYPE 1 AND POLAND SYNDROME: A NOVEL ASSOCIATION IN A MEXICAN FEMALE INFANT. ( 26625666 )		2015
31	Poland syndrome involving the left hemithorax with dextrocardia and herniation of the spleen. ( 24567179 )	Panda S.S....Jana M.	2014
32	Poland syndrome. ( 24959021 )	Sharma C.M....Agrawal R.P.	2014
33	Clinical application of Nuss procedure for chest wall deformity in Poland syndrome. ( 26336460 )	Koizumi T....Satoh K.	2014
34	Bipolar Latissimus Dorsi Transfer for Restoration of Pectoralis Major Function in Poland Syndrome. ( 25046677 )	Buchanan P....Mast B.A.	2014
35	Poland syndrome coexisting with blaschkolinear congenital melanocytic nevi. ( 25007065 )	Lam T....Trockman J.	2014
36	Customized Titanium Implant for Chest Wall Reconstruction in Complex Poland Syndrome. ( 25243105 )		2014
37	De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome. ( 24885342 )		2014
38	Comments on the article &quot;Clinical application of Nuss procedure for chest wall deformity in Poland syndrome&quot;. ( 26336461 )		2014
39	Hybrid procedure for Poland syndrome associated with a Gerbode-type defect. ( 24854181 )		2014
40	Poland syndrome: an algorithm to select the appropriate chest wall surgical reconstructive treatment. ( 25074240 )	Chiummariello S...Alfano C	2014
41	Articulated endoscopic linear cutter stapler facilitates minimal access harvest of the latissimus dorsi muscle flap for chest wall reconstruction in Poland syndrome. ( 25347672 )	Salibi A...Hart AM	2014
42	Laparoscopically harvested omental flap for breast reconstruction in Poland syndrome. ( 23972535 )	Romanini M.V....Morovic C.G.	2013
43	Poland syndrome: from embryological basis to plastic surgery. ( 23420344 )	Cingel V....Varga I.	2013
44	A rare association of pulmonary hypertension and dextrocardia with Poland syndrome. ( 24054492 )	Raval J....Denniss A.R.	2013
45	A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus. ( 23011746 )	Atasoy H.I....Duzenli S.	2013
46	Optic Disc Dysplasia in Poland Syndrome. ( 23647425 )	Maxfield S.D....Strominger M.B.	2013
47	Chest wall reconstruction with methacrylate prosthesis in Poland syndrome. ( 23453291 )		2013
48	A case of spontaneous chylous pericardial effusion in Poland syndrome. ( 23918317 )		2013
49	Autologous Reconstruction of a Complex Form of Poland Syndrome Using 2 Abdominal Perforator Free Flaps. ( 24322640 )		2013
50	Poland syndrome a rare congenital anomaly. ( 24339551 )		2013

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Genes for Poland Syndrome

Genes related to Poland Syndrome (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	REV3L	REV3 Like, DNA Directed Polymerase Zeta Catalytic Subunit	Protein Coding	16.1	DISEASES inferred ¹⁵
2	LRP4	LDL Receptor Related Protein 4	Protein Coding	15.81	DISEASES inferred ¹⁵
3	VPS13B	Vacuolar Protein Sorting 13 Homolog B	Protein Coding	15.51	DISEASES inferred ¹⁵
4	HK1	Hexokinase 1	Protein Coding	15.44	DISEASES inferred ¹⁵
5	ALX3	ALX Homeobox 3	Protein Coding	15.43	DISEASES inferred ¹⁵
6	NOTCH1	Notch 1	Protein Coding	13.49	DISEASES inferred ¹⁵
7	HRASLS2	HRAS Like Suppressor 2	Protein Coding	7.92	DISEASES inferred ¹⁵
8	HRASLS5	HRAS Like Suppressor Family Member 5	Protein Coding	7.45	DISEASES inferred ¹⁵
9	TAF8	TATA-Box Binding Protein Associated Factor 8	Protein Coding	6.22	DISEASES inferred ¹⁵
10	RARRES3	Retinoic Acid Receptor Responder 3	Protein Coding	6.06	DISEASES inferred ¹⁵
11	PLA2G16	Phospholipase A2 Group XVI	Protein Coding	5.81	DISEASES inferred ¹⁵
12	GCG	Glucagon	Protein Coding	3.02	DISEASES inferred ¹⁵

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Variations for Poland Syndrome

Copy number variations for Poland Syndrome from CNVD:

⁷

#	CNVD ID	Chromosom	Start	End	Type	CNVD Disease
1	35927	1	69500000	84700000	Deletion	Poland''s syndrome
2	104857	16	73300000	78200000	Duplication	Poland''s syndrome
3	263628	X	49700000	54700000	Duplication	Poland''s syndrome

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Expression for Poland Syndrome

Search GEO for disease gene expression data for Poland Syndrome.

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Pathways for Poland Syndrome

Pathways related to Poland Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Glycerophospholipid biosynthesis ⁶⁶ Show member pathways Acyl chain remodeling of CL ⁶⁶ Acyl chain remodeling of DAG and TAG ⁶⁶ Acyl chain remodelling of PG ⁶⁶ Acyl chain remodelling of PI ⁶⁶ Choline catabolism ⁶⁶ choline degradation ¹ glycerol-3-phosphate shuttle ¹ Glycerophospholipid metabolism ³⁷ Hydrolysis of LPC ⁶⁶ Hydrolysis of LPE ⁶⁶ phosphatidylserine biosynthesis I ¹ phosphatidylserine biosynthesis II ¹ Phospholipid metabolism ⁶⁶ Phosphonate and phosphinate metabolism ³⁷ Synthesis of CL ⁶⁶ Synthesis of PE ⁶⁶ Synthesis of PG ⁶⁶ Synthesis of PI ⁶⁶ Synthesis of PS ⁶⁶	11.99	HRASLS2 HRASLS5 PLA2G16 RARRES3
2	Acyl chain remodelling of PE ⁶⁶ Show member pathways Acyl chain remodelling of PC ⁶⁶ Acyl chain remodelling of PS ⁶⁶ Ether lipid metabolism ³⁷ Synthesis of PA ⁶⁶	11.13	HRASLS2 HRASLS5 PLA2G16 RARRES3
3	phospholipases ¹ Show member pathways Anandamide biosynthesis and metabolism ²²	10.85	HRASLS5 PLA2G16

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GO Terms for Poland Syndrome

Biological processes related to Poland Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	embryonic limb morphogenesis	GO:0030326	9.32	LRP4 NOTCH1
2	embryonic hindlimb morphogenesis	GO:0035116	9.26	ALX3 NOTCH1
3	negative regulation of ossification	GO:0030279	9.16	LRP4 NOTCH1
4	lipid catabolic process	GO:0016042	9.13	HRASLS2 PLA2G16 RARRES3
5	phosphatidylethanolamine acyl-chain remodeling	GO:0036152	8.8	HRASLS2 PLA2G16 RARRES3

Molecular functions related to Poland Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phospholipase A2 activity	GO:0004623	8.96	PLA2G16 RARRES3
2	transferase activity, transferring acyl groups	GO:0016746	8.92	HRASLS2 HRASLS5 PLA2G16 RARRES3

Sources

Sources for Poland Syndrome

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

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

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

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

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