Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Congenital Heart Defects, Hamartomas of Tongue, and...

MalaCards integrated aliases for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

Name: Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly ⁵⁷ ⁷⁵

Hamartoma ⁴⁴ ⁷³

Chdthp ⁵⁷ ⁷⁵

Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome ⁵⁹

Heart Defect, Tongue Hamartoma and Polysyndactyly ⁷³

Orstavik Lindemann Solberg Syndrome ⁷³

Ostravik-Lindemann-Solberg Syndrome ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

heart defect-tongue hamartoma-polysyndactyly syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
three patients reported, one with a wdpcp mutation (last curated january 2015)

HPO:

³²

congenital heart defects, hamartomas of tongue, and polysyndactyly:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁹

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 217085

Orphanet ⁵⁹ ORPHA1338

UMLS via Orphanet ⁷⁴ C2931046

ICD10 via Orphanet ³⁴ Q87.8

MESH via Orphanet ⁴⁵ C535849

MedGen ⁴² C1857587

MeSH ⁴⁴ D006222 D006330 D013576

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 194021007 more

UMLS ⁷³ C1857587 C2931046 C0018552

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Summaries for Congenital Heart Defects, Hamartomas of Tongue, and...

UniProtKB/Swiss-Prot : ⁷⁵ Congenital heart defects, hamartomas of tongue, and polysyndactyly: A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.

MalaCards based summary : Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly, also known as hamartoma, is related to tuberous sclerosis 1 and tuberous sclerosis 2. An important gene associated with Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly is WDPCP (WD Repeat Containing Planar Cell Polarity Effector), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Regulation of TP53 Activity. Affiliated tissues include tongue, heart and kidney, and related phenotypes are cryptorchidism and 2-3 finger syndactyly

Description from OMIM: 217085

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Related Diseases for Congenital Heart Defects, Hamartomas of Tongue, and...

Diseases in the Heart Defect, Tongue Hamartoma and Polysyndactyly family:

Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

Diseases related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)

#	Related Disease	Score	Top Affiliating Genes
1	tuberous sclerosis 1	31.9	CCL26 TSC1 TSC2
2	tuberous sclerosis 2	31.8	TSC1 TSC2
3	cowden disease	31.8	PTEN STK11 TSC1 TSC2
4	juvenile polyposis syndrome	30.9	PTEN STK11
5	birt-hogg-dube syndrome	30.9	FLCN PTEN
6	peutz-jeghers syndrome	30.6	PTEN STK11 TSC1 TSC2
7	hypothalamic hamartomas	12.4
8	pten hamartoma tumor syndrome	12.3
9	congenital smooth muscle hamartoma	12.2
10	basaloid follicular hamartoma	12.1
11	hepatic cystic hamartoma	12.1
12	basaloid follicular hamartoma syndrome, generalized, autosomal dominant	12.0
13	giant mammary hamartoma	12.0
14	combined hamartoma of the retina and retinal pigment epithelium	12.0
15	angiomyomatous hamartoma	12.0
16	cowden syndrome 1	11.9
17	rhabdomyomatous mesenchymal hamartoma	11.9
18	angiomatous lymphoid hamartoma	11.9
19	hamartoma, precalcaneal congenital fibrolipomatous	11.8
20	macrocephaly mesodermal hamartoma spectrum	11.8
21	heart defect, tongue hamartoma and polysyndactyly	11.8
22	linear hamartoma syndrome	11.8
23	hypothalamic hamartomas with gelastic seizures	11.8
24	bannayan-riley-ruvalcaba syndrome	11.8
25	perlman syndrome	11.6
26	pallister-hall syndrome	11.5
27	graham boyle troxell syndrome	11.5
28	orstavik lindemann solberg syndrome	11.4
29	nevus, epidermal	11.4
30	congenital mesoblastic nephroma	11.2
31	capillary hemangioma	11.1
32	odontoma	11.1
33	skin creases, congenital symmetric circumferential, 1	11.1
34	curry-jones syndrome	11.0
35	bazex syndrome	10.9
36	trichoepithelioma, multiple familial, 1	10.9
37	polydactyly cleft lip palate psychomotor retardation	10.9
38	castleman disease	10.8
39	linear verrucous nevus syndrome	10.8
40	adult hepatocellular carcinoma	10.5	TSC1 TSC2
41	subependymal glioma	10.5	TSC1 TSC2
42	benign ependymoma	10.5	TSC1 TSC2
43	lissencephaly with cerebellar hypoplasia	10.5	TSC1 TSC2
44	subependymal giant cell astrocytoma	10.5	TSC1 TSC2
45	corneal dystrophy, fleck	10.4	TSC1 TSC2
46	angiomatosis	10.4	CCL26 TSC2
47	focal cortical dysplasia, type ii	10.4	TSC1 TSC2
48	uterine benign neoplasm	10.4	HMGA2 TSC2
49	reproductive organ benign neoplasm	10.3	HMGA2 TSC2
50	skin lipoma	10.3	HMGA2 PTEN

Graphical network of the top 20 diseases related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

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Symptoms & Phenotypes for Congenital Heart Defects, Hamartomas of Tongue, and...

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skeletal Hands:
postaxial polydactyly
syndactyly, fingers 2-3

Cardiovascular Heart:
congenital heart disease
atrioventricular canal

Head And Neck Eyes:
hypertelorism (in 1 patient)

Genitourinary Kidneys:
normal kidneys

Cardiovascular Vascular:
coarctation of the aorta

Neurologic Central Nervous System:
normal motor development
normal intellectual development

Head And Neck Mouth:
tongue polyps (hamartomas)
no tongue lobulation
no oral cleft

Skeletal Feet:
hallux duplication, bilateral
broad hallux, bilateral
syndactyly, toes 2-3

Clinical features from OMIM:

217085

Human phenotypes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

⁵⁹ ³² (show all 12)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	cryptorchidism ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000028
2	2-3 finger syndactyly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001233
3	patent ductus arteriosus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001643
4	hamartoma of tongue ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0011802
5	benign neoplasm of the central nervous system ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0100835
6	subaortic stenosis ⁵⁹		Very frequent (99-80%)
7	hypertelorism ³²	occasional (7.5%)		HP:0000316
8	postaxial hand polydactyly ³²			HP:0001162
9	complete atrioventricular canal defect ³²			HP:0001674
10	coarctation of aorta ³²			HP:0001680
11	subvalvular aortic stenosis ³²	hallmark (90%)		HP:0001682
12	broad hallux ³²			HP:0010055

MGI Mouse Phenotypes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.98	FLCN GLI3 PTEN STK11 TSC1 TSC2
2	cellular	MP:0005384	9.95	FLCN GLI3 PTEN STK11 TSC1 TSC2
3	embryo	MP:0005380	9.91	FLCN GLI3 PTEN STK11 TSC1 TSC2
4	growth/size/body region	MP:0005378	9.87	FLCN GLI3 PTEN STK11 TSC1 TSC2
5	renal/urinary system	MP:0005367	9.7	FLCN GLI3 PTEN STK11 TSC1 TSC2
6	neoplasm	MP:0002006	9.65	FLCN PTEN STK11 TSC1 TSC2
7	respiratory system	MP:0005388	9.35	GLI3 PTEN STK11 TSC1 WDPCP
8	vision/eye	MP:0005391	9.02	GLI3 PTEN STK11 TSC1 WDPCP

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Drugs & Therapeutics for Congenital Heart Defects, Hamartomas of Tongue, and...

Search Clinical Trials , NIH Clinical Center for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly

Cochrane evidence based reviews: hamartoma

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Genetic Tests for Congenital Heart Defects, Hamartomas of Tongue, and...

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Anatomical Context for Congenital Heart Defects, Hamartomas of Tongue, and...

MalaCards organs/tissues related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

⁴¹

Tongue, Heart, Kidney

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Publications for Congenital Heart Defects, Hamartomas of Tongue, and...

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Genes for Congenital Heart Defects, Hamartomas of Tongue, and...

Genes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	1628.58	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Unconfirmed association ⁵⁷ GeneCards inferred via : Disorders Variants (show sections)
2	TSC1	TSC Complex Subunit 1	Protein Coding	421.14	Pathogenic ⁶ Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	18292222 11468687 8950679 (more) 10806479 19177005 12773159 16244323 16965334 10372905 17562705 17321910 16300636 17300684 12202993 11264130 11758789 14614311 18830229 20146692 9888331 14747793 14508401 12844226 12511557 11397651 11266527 11179759 10533067 10534239 20490765 19747374 19357198 18386114 18177819 18187819 17376623 16225402 15798777 16453317 12556239 11710839 10491404 17392644 16845661 12181272 7849708 17990907 19966866 18854862 17986349 17522300 16390268 15747752 15261137 12147258 11675974 8863669 19259131 18978035 16114042 9874853 19175396 18473031 17985261 17637444 16464865 18581125 18381890 16206276 14756965 12192641 11355103 9537475 9655146 15236319 12226091 11173847 10807585 8566961 17234746 16996505 16981987 9242607 20077806 18958173 18302728 14633685 15024740 17962806
3	TSC2	TSC Complex Subunit 2	Protein Coding	421.09	Pathogenic ⁶ Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	9310961 11468687 11112665 (more) 12773159 8950679 9358774 8824721 8944308 14614311 9619828 11397651 14508401 8566961 11355103 10577937 18386114 18177819 12226091 11438694 11173847 9444353 9285776 9306341 12202993 7849709 19175396 16244323 14641237 12556239 11710839 10491404 19966866 17522300 16390268 15261137 15185103 12147258 10483779 10096549 9302281 17990907 18926585 18381890 16206276 14871804 17234746 12511557 11266527 16959574 18292222 18958173 20146692
4	HMGA2	High Mobility Group AT-Hook 2	Protein Coding	19.71	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	8637707 10744071 8603366 (more) 8780755 17045619 10998430 9466569 8954805 12063392 9495195 14612541 12021922 17332316 11921278 8908160
5	CCL26	C-C Motif Chemokine Ligand 26	Protein Coding	19.61	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11468687 7849709 8824721 (more) 20146692 19966866 11438694 18926585 14641237
6	PTEN	Phosphatase And Tensin Homolog	Protein Coding	19.59	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	19668082 18986487 18794875 (more) 18781191 9467011 10910075 17941496 9620558 10548886 18931957 10232405 18431376 10582703 11021816 11395387 16773562 12786840 18672141 17768394 11237521 17033968 16007494 11173847 19463221 17920899 16421431 15478312 11726926 9708796 9443042 19812499 17249301 11476841 9715274 15805158 10200246 10534767 11005140 19381654 19414148 11875759 17028174
7	STK11	Serine/Threonine Kinase 11	Protein Coding	19.52	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	11956081 16278673 12183403 (more) 9708796 9850045 15261137 9537235 10353780 10398133 18600394 17676035 10429655 20428811 19204826 10644993 10389980 14726968 16822578 17028174
8	FLCN	Folliculin	Protein Coding	18.95	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	17028174 15143337 14961590
9	GLI3	GLI Family Zinc Finger 3	Protein Coding	18.8	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	19449422 18252217 18057317 (more) 18478223

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Variations for Congenital Heart Defects, Hamartomas of Tongue, and...

UniProtKB/Swiss-Prot genetic disease variations for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	WDPCP	p.Asp54Asn	VAR_073251	rs200322968

ClinVar genetic disease variations for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TSC1	NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter)	single nucleotide variant	Pathogenic	rs118203682	GRCh37	Chromosome 9, 135778027: 135778027
2	TSC1	NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter)	single nucleotide variant	Pathogenic	rs118203682	GRCh38	Chromosome 9, 132902640: 132902640
3	WDPCP	NM_015910.6(WDPCP): c.552_553delAT (p.Cys185Phefs)	deletion	Pathogenic	rs727503781	GRCh37	Chromosome 2, 63664635: 63664636
4	WDPCP	NM_015910.6(WDPCP): c.552_553delAT (p.Cys185Phefs)	deletion	Pathogenic	rs727503781	GRCh38	Chromosome 2, 63437501: 63437502
5	WDPCP	NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn)	single nucleotide variant	Pathogenic	rs200322968	GRCh37	Chromosome 2, 63719990: 63719990
6	WDPCP	NM_015910.6(WDPCP): c.160G> A (p.Asp54Asn)	single nucleotide variant	Pathogenic	rs200322968	GRCh38	Chromosome 2, 63492856: 63492856
7	TSC2	NM_000548.4(TSC2): c.5160+4A> C	single nucleotide variant	Pathogenic	rs45517403	GRCh37	Chromosome 16, 2138144: 2138144
8	TSC2	NM_000548.4(TSC2): c.5160+4A> C	single nucleotide variant	Pathogenic	rs45517403	GRCh38	Chromosome 16, 2088143: 2088143

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Expression for Congenital Heart Defects, Hamartomas of Tongue, and...

Search GEO for disease gene expression data for Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly.

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Pathways for Congenital Heart Defects, Hamartomas of Tongue, and...

Pathways related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

(show all 24)

#	Super pathways	Score	Top Affiliating Genes
1	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.69	PTEN STK11 TSC1 TSC2
2	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.67	PTEN STK11 TSC1 TSC2
3	Glucose / Energy Metabolism ⁴	12.28	PTEN STK11 TSC2
4	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	12.26	PTEN TSC1 TSC2
5	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁷ AMPK Signaling Pathway ⁶⁷	12.17	STK11 TSC1 TSC2
6	mTOR signalling ⁶⁶ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁶ mTORC1-mediated signalling ⁶⁶ PDE3B signalling ⁶⁶ PI3K Cascade ⁶⁶ PKB-mediated events ⁶⁶ Target Of Rapamycin (TOR) Signaling ¹	12.15	STK11 TSC1 TSC2
7	Translational Control ⁴	11.97	FLCN TSC1 TSC2
8	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴ mitochondrial L-carnitine shuttle ¹	11.91	STK11 TSC1 TSC2
9	AKT Signaling Pathway ⁶⁷	11.87	PTEN TSC1 TSC2
10	Cellular senescence (KEGG) ³⁷	11.86	PTEN TSC1 TSC2
11	Longevity regulating pathway ³⁷ Show member pathways Longevity regulating pathway - multiple species ³⁷	11.81	STK11 TSC1 TSC2
12	Development IGF-1 receptor signaling ²² Show member pathways Signal transduction AKT signaling ²²	11.71	PTEN TSC1 TSC2
13	Integrated Breast Cancer Pathway ¹	11.64	PTEN STK11 TSC1 TSC2
14	Glioblastoma Multiforme ⁶⁴	11.63	PTEN TSC1 TSC2
15	PI3K / Akt Signaling ⁴	11.51	PTEN TSC1 TSC2
16	mTOR signaling pathway (KEGG) ⁶⁵ Show member pathways mTOR signaling pathway ³⁷	11.48	FLCN PTEN STK11 TSC1 TSC2
17	TP53 Regulates Metabolic Genes ⁶⁶	11.43	PTEN TSC1 TSC2
18	Autophagy - animal ³⁷	11.36	PTEN STK11 TSC1 TSC2
19	Wnt Signaling Pathway Netpath ¹	11.34	TSC1 TSC2
20	TBC/RABGAPs ⁶⁶	11.27	TSC1 TSC2
21	ATM Signaling Network in Development and Disease ¹	11.25	STK11 TSC2
22	BDNF-TrkB Signaling ¹	11.1	TSC1 TSC2
23	LKB1 signaling events ¹	11.06	STK11 TSC1 TSC2
24	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ¹	11	PTEN TSC2

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GO Terms for Congenital Heart Defects, Hamartomas of Tongue, and...

Cellular components related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	9.46	GLI3 PTEN TSC1 WDPCP
2	cilium	GO:0005929	9.13	FLCN GLI3 WDPCP
3	TSC1-TSC2 complex	GO:0033596	8.62	TSC1 TSC2

Biological processes related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	nervous system development	GO:0007399	9.8	PTEN STK11 TSC1 WDPCP
2	heart development	GO:0007507	9.72	GLI3 PTEN TSC2
3	cell cycle arrest	GO:0007050	9.63	STK11 TSC1 TSC2
4	regulation of cell cycle	GO:0051726	9.61	PTEN TSC1 TSC2
5	embryonic digit morphogenesis	GO:0042733	9.58	GLI3 WDPCP
6	protein kinase B signaling	GO:0043491	9.58	PTEN TSC2
7	positive regulation of autophagy	GO:0010508	9.57	FLCN STK11
8	embryonic organ development	GO:0048568	9.56	GLI3 WDPCP
9	negative regulation of insulin receptor signaling pathway	GO:0046627	9.54	TSC1 TSC2
10	kidney development	GO:0001822	9.54	GLI3 TSC1 WDPCP
11	positive regulation of macroautophagy	GO:0016239	9.52	TSC1 TSC2
12	positive regulation of transforming growth factor beta receptor signaling pathway	GO:0030511	9.51	FLCN STK11
13	regulation of focal adhesion assembly	GO:0051893	9.48	TSC1 WDPCP
14	negative regulation of phosphatidylinositol 3-kinase signaling	GO:0014067	9.4	PTEN TSC2
15	negative regulation of cell proliferation	GO:0008285	9.35	GLI3 PTEN STK11 TSC1 TSC2
16	negative regulation of protein kinase B signaling	GO:0051898	9.33	FLCN PTEN TSC2
17	anoikis	GO:0043276	9.32	STK11 TSC2
18	negative regulation of cell size	GO:0045792	9.26	PTEN TSC1
19	negative regulation of TOR signaling	GO:0032007	8.8	FLCN TSC1 TSC2

Molecular functions related to Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Hsp90 protein binding	GO:0051879	8.62	TSC1 TSC2

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⁵⁵ Novoseek

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⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

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⁷³ UMLS

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia