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

MCID: ZMM001 MIFTS: 36	Zimmermann-Laband Syndrome Categories: Ear diseases, Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Oral diseases, Rare diseases, Smell/Taste diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Zimmermann-Laband Syndrome

MalaCards integrated aliases for Zimmermann-Laband Syndrome:

Name: Zimmermann-Laband Syndrome ⁵⁸ ³⁶ ²⁹ ³⁹

Gingival Fibromatosis-Hepatosplenomegaly-Other Anomalies Syndrome ⁵⁸

Zimmerman Laband Syndrome ⁷¹

Laband Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

zimmermann-laband syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Oral diseases Liver diseases Ear diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³³

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: ⁵⁸

Rare neurological diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

KEGG ³⁶ H01573

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C0796013

Orphanet ⁵⁸ ORPHA3473

UMLS ⁷¹ C0796013

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Summaries for Zimmermann-Laband Syndrome

KEGG : ³⁶ Zimmermann-Laband syndrome (ZLS) is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic, suggesting autosomal dominant inheritance with de novo mutations. The main clinical characteristics of ZLS are gingival enlargement, prominent nose and thick ears with soft cartilages, nail aplasia or hypoplasia, hypertrichosis, joint hyperextensibility, hepato(spleno)megaly, and intellectual disability with or without epilepsy. Mutations in KCNH1 and ATP6V1B2 account for a proportion of ZLS.

MalaCards based summary : Zimmermann-Laband Syndrome, also known as gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome, is related to zimmermann-laband syndrome 1 and hypertrichosis, and has symptoms including seizures An important gene associated with Zimmermann-Laband Syndrome is KCNH1 (Potassium Voltage-Gated Channel Subfamily H Member 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Transmission across Chemical Synapses. Affiliated tissues include bone and skin, and related phenotypes are gingival fibromatosis and intellectual disability

Wikipedia : ⁷⁴ Zimmermann-Laband syndrome (ZLS), is an extremely rare autosomal dominant congenital... more...

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Related Diseases for Zimmermann-Laband Syndrome

Diseases in the Zimmermann-Laband Syndrome family:

Zimmermann-Laband Syndrome 1	Zimmermann-Laband Syndrome 2
Zimmermann-Laband Syndrome 3

Diseases related to Zimmermann-Laband Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)

#	Related Disease	Score	Top Affiliating Genes
1	zimmermann-laband syndrome 1	34.5	KCNH1 ATP6V1B2
2	hypertrichosis	30.7	KCNN3 KCNH1 ATP6V1B2
3	zimmermann-laband syndrome 2	13.1
4	zimmermann-laband syndrome 3	13.1
5	autosomal dominant deafness-onychodystrophy syndrome	11.6
6	hypertrichosis, congenital generalized, with or without gingival hyperplasia	11.2
7	fibromatosis	11.0
8	gingival fibromatosis	11.0
9	alacrima, achalasia, and mental retardation syndrome	10.7
10	gingival overgrowth	10.7
11	temple-baraitser syndrome	10.5
12	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.5
13	overgrowth syndrome	10.5
14	fibromatosis, gingival, 1	10.4
15	hypertelorism	10.4
16	dowling-degos disease 1	10.4
17	strabismus	10.4
18	teeth, supernumerary	10.4
19	retinitis pigmentosa	10.4
20	branchiootic syndrome 1	10.4
21	polydactyly	10.4
22	patent ductus arteriosus 1	10.4
23	nail disorder, nonsyndromic congenital, 9	10.4
24	portal hypertension, noncirrhotic	10.4
25	brachydactyly	10.4
26	neuroretinitis	10.4
27	portal hypertension	10.4
28	visual epilepsy	10.4
29	biliary atresia	10.4
30	hemangioma	10.4
31	retinitis	10.4
32	cavernous hemangioma	10.4
33	gingival hypertrophy	10.4
34	cataract	10.4
35	learning disability	10.4
36	mechanical strabismus	10.4
37	hypermobile ehlers-danlos syndrome	10.4
38	colpocephaly	10.4
39	hypotonia	10.4
40	seizure disorder	10.4
41	multiple congenital anomalies/dysmorphic syndrome-intellectual disability	10.4
42	macroglossia	10.0
43	long qt syndrome 2	9.6	KCNH1 CALM1

Graphical network of the top 20 diseases related to Zimmermann-Laband Syndrome:

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Symptoms & Phenotypes for Zimmermann-Laband Syndrome

Human phenotypes related to Zimmermann-Laband Syndrome:

⁵⁸ ³¹ (show all 44)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	gingival fibromatosis ⁵⁸ ³¹	obligate (100%)	Obligate (100%)	HP:0000169
2	intellectual disability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001249
3	wide mouth ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000154
4	joint hypermobility ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001382
5	bulbous nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000414
6	wide nose ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000445
7	hypoplastic fingernail ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001804
8	absent fingernail ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001817
9	generalized hypertrichosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004554
10	thickened ears ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009894
11	large fleshy ears ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002265
12	anterior open-bite malocclusion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009102
13	macroglossia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000158
14	cataract ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000518
15	splenomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001744
16	hepatomegaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002240
17	hypertelorism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000316
18	short neck ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000470
19	pes planus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001763
20	thick eyebrow ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000574
21	growth delay ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001510
22	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
23	micrognathia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000347
24	downslanted palpebral fissures ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000494
25	increased number of teeth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011069
26	telecanthus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000506
27	hypodontia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000668
28	hallux valgus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001822
29	pes cavus ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001761
30	long eyelashes ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000527
31	bifid uvula ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000193
32	abnormality of cardiovascular system morphology ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0030680
33	abnormal external genitalia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000811
34	soft skin ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000977
35	infantile muscular hypotonia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0008947
36	facial hypertrichosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002219
37	seizure ³¹	occasional (7.5%)		HP:0001250
38	sensorineural hearing impairment ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000407
39	generalized hyperpigmentation ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0007440
40	deep plantar creases ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001869
41	deep palmar crease ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0006191
42	overtubulated long bones ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0006391
43	seizures ⁵⁸		Occasional (29-5%)
44	cleft palate ⁵⁸		Occasional (29-5%)

UMLS symptoms related to Zimmermann-Laband Syndrome:

seizures

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Drugs & Therapeutics for Zimmermann-Laband Syndrome

Search Clinical Trials , NIH Clinical Center for Zimmermann-Laband Syndrome

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Genetic Tests for Zimmermann-Laband Syndrome

Genetic tests related to Zimmermann-Laband Syndrome:

#	Genetic test	Affiliating Genes
1	Zimmermann-Laband Syndrome ²⁹

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Anatomical Context for Zimmermann-Laband Syndrome

MalaCards organs/tissues related to Zimmermann-Laband Syndrome:

⁴⁰

Bone, Skin

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Publications for Zimmermann-Laband Syndrome

Articles related to Zimmermann-Laband Syndrome:

(show all 44)

#	Title	Authors	PMID	Year
1	Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. ⁶¹ ⁶	Kortum F...Kutsche K	25915598	2015
2	Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. ⁶ ⁶¹	Castori M...Grammatico P	23994350	2013
3	No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. ⁶ ⁶¹	Abo-Dalo B...Kutsche K	18541964	2008
4	Syndromes with gingival fibromatosis: A systematic review. ⁶¹	Costa CRR...Acevedo AC	32335995	2020
5	EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. ⁶¹	Shaw M...Gecz J	31655144	2020
6	"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes. ⁶¹	Hamilton MJ...Suri M	32560786	2020
7	Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. ⁶¹	Bauer CK...Kutsche K	31155282	2019
8	Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients. ⁶¹	Shirian S...Daneshbod Y	31275518	2019
9	An Extremely Rare Presentation of Zimmermann-Laband Syndrome in a Twin. ⁶¹	Reddy M...Ranmare V	30693263	2018
10	Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. ⁶¹	Sangkhathat S...Chiengkriwate P	29707407	2018
11	Syndromes with supernumerary teeth. ⁶¹	Lubinsky M...Kantaputra PN	27250821	2016
12	Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity? ⁶¹	Megarbane A...Chouchane L	27282200	2016
13	Epilepsy in KCNH1-related syndromes. ⁶¹	Mastrangelo M...Leuzzi V	27267311	2016
14	De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. ⁶¹	Fukai R...Matsumoto N	26818738	2016
15	'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes. ⁶¹	Bramswig NC...Ludecke HJ	26264464	2015
16	The orthodontic and surgical management of Zimmerman-Laband syndrome. ⁶¹	Perks T...Maggs R	23646327	2013
17	Zimmermann-Laband syndrome: a case report. ⁶¹	Sawaki K...Nakano M	22838235	2012
18	Current concepts on gingival fibromatosis-related syndromes. ⁶¹	Poulopoulos A...Sarigelou A	25426785	2011
19	Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. ⁶¹	Chacon-Camacho OF...Zenteno JC	21626675	2011
20	Wide clinical spectrum in Zimmermann-Laband syndrome. ⁶¹	Davalos IP...Garcia-cruz D	21614982	2011
21	Report of a case of Zimmermann-Laband syndrome with new manifestations. ⁶¹	Lin Z...Huang X	20457511	2010
22	Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures. ⁶¹	Balasubramanian M...Parker MJ	20009591	2010
23	Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview. ⁶¹	Douzgou S...Dallapiccola B	19625955	2009
24	Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. ⁶¹	Abo-Dalo B...Kutsche K	17937436	2007
25	The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years. ⁶¹	Haytac MC...Ozcelik O	17395066	2007
26	Candidate loci for Zimmermann-Laband syndrome at 3p14.3. ⁶¹	Kim HG...Gusella JF	17163523	2007
27	[Syndromic gingival fibromatosis]. ⁶¹	Kissi L...Rifki A	17195004	2006
28	Ultrastructural investigation of Zimmermann-Laband syndrome. ⁶¹	Hoogendijk CF...Christianson AL	17182434	2006
29	Zimmermann-Laband syndrome in an infant with an atypical histologic finding. ⁶¹	Atabek ME...Toy H	16267629	2005
30	Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome. ⁶¹	Holzhausen M...Orrico SR	16171447	2005
31	Zimmermann-Laband syndrome: further clinical delineation. ⁶¹	Davalos IP...Sanchez-Corona J	16261693	2005
32	Zimmermann-Laband syndrome with bilateral developmental cataract - a new association? ⁶¹	Shah N...Ghose S	14706033	2004
33	A case of Zimmermann-Laband syndrome with supernumerary teeth. ⁶¹	Holzhausen M...Orrico SR	14514238	2003
34	Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions. ⁶¹	Stefanova M...Kutsche K	12599195	2003
35	Zimmerman-Laband syndrome: An unusually early presentation in a newborn girl. ⁶¹	Dumic M...Batinica S	9933906	1999
36	Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. ⁶¹	Robertson SP...Bankier A	9674908	1998
37	Zimmermann-Laband syndrome in a patient with severe mental retardation. ⁶¹	Van Buggenhout GJ...Hamel BC	8775419	1995
38	A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa. ⁶¹	Koch P...Zaun H	1361289	1992
39	The Zimmermann-Laband syndrome. ⁶¹	Pfeiffer RA...Tietze HU	1740896	1992
40	Hereditary gingival fibromatosis in a family with the Zimmermann-Laband syndrome. ⁶¹	Bakaeen G...Scully C	1804991	1991
41	A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. ⁶¹	de Pina Neto JM...Ribas JP	3228149	1988
42	[Analysis of phenotypic variability of Zimmermann-Laband syndrome]. ⁶¹	Il'ina EG...Vasiliauskene IP	3205658	1988
43	Zimmerman-Laband syndrome and profound mental retardation. ⁶¹	Chodirker BN...Reed MH	3789014	1986
44	Heterogeneity in gingival fibromatosis. ⁶¹	Witkop CJ	4950923	1971

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Genes for Zimmermann-Laband Syndrome

Genes related to Zimmermann-Laband Syndrome (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCNH1	Potassium Voltage-Gated Channel Subfamily H Member 1	Protein Coding	378.05	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
2	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	377.5	Causative germline mutation ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
3	KCNN3	Potassium Calcium-Activated Channel Subfamily N Member 3	Protein Coding	377.5	Causative germline mutation (gain of function) ⁵⁸ GeneCards inferred via : Disorders Publications Variants (show sections)
4	WNT5A	Wnt Family Member 5A	Protein Coding	7.41	GeneCards inferred via : Publications (show sections)
5	ZLS	Zimmerman-Laband Syndrome	Genetic Locus	7.41	GeneCards inferred via : Publications (show sections)
6	CACNA2D3	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 3	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)
7	CALM1	Calmodulin 1	Protein Coding	7.07	GeneCards inferred via : Publications (show sections)

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Variations for Zimmermann-Laband Syndrome

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Expression for Zimmermann-Laband Syndrome

Search GEO for disease gene expression data for Zimmermann-Laband Syndrome.

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Pathways for Zimmermann-Laband Syndrome

Pathways related to Zimmermann-Laband Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.1	WNT5A KCNN3 CALM1
2	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	11.78	KCNN3 KCNH1 CALM1 CACNA2D3
3	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	10.83	CALM1 CACNA2D3

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GO Terms for Zimmermann-Laband Syndrome

Cellular components related to Zimmermann-Laband Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.43	WNT5A KCNN3 KCNH1 CALM1 CACNA2D3 ATP6V1B2
2	voltage-gated potassium channel complex	GO:0008076	8.62	KCNH1 CALM1

Biological processes related to Zimmermann-Laband Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to calcium ion	GO:0071277	9.26	WNT5A KCNH1
2	Wnt signaling pathway, calcium modulating pathway	GO:0007223	9.16	WNT5A CALM1
3	positive regulation of peptidyl-threonine phosphorylation	GO:0010800	8.96	WNT5A CALM1
4	ion transport	GO:0006811	8.92	KCNN3 KCNH1 CACNA2D3 ATP6V1B2

Molecular functions related to Zimmermann-Laband Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ion channel binding	GO:0044325	8.62	KCNH1 CALM1

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Sources for Zimmermann-Laband Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

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²⁰ GeneAnalytics

²¹ GeneCards

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

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³² ICD10

³³ ICD10 via Orphanet

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia