Familial Isolated Trichomegaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FML286 MIFTS: 30	Familial Isolated Trichomegaly Categories: Eye diseases, Genetic diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Expand all tables

Sources

Aliases & Classifications for Familial Isolated Trichomegaly

MalaCards integrated aliases for Familial Isolated Trichomegaly:

Name: Familial Isolated Trichomegaly ¹² ¹⁵

Long Eyelashes ¹²

Tcmgly ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111566

Sources

Summaries for Familial Isolated Trichomegaly

Disease Ontology : ¹² An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has material basis in homozygous or compund heterozygous mutation in FGF5 on chromosome 4q21.21.

MalaCards based summary : Familial Isolated Trichomegaly, also known as long eyelashes, is related to wiedemann-steiner syndrome and cornelia de lange syndrome. An important gene associated with Familial Isolated Trichomegaly is PAGR1 (PAXIP1 Associated Glutamate Rich Protein 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include skin, eye and testis, and related phenotypes are embryo and craniofacial

Sources

Related Diseases for Familial Isolated Trichomegaly

Diseases related to Familial Isolated Trichomegaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)

#	Related Disease	Score	Top Affiliating Genes
1	wiedemann-steiner syndrome	32.2	SMC3 SMC1A
2	cornelia de lange syndrome	29.9	SMC3 SMC1A RAD21 PDS5A NIPBL HDAC8
3	oliver-mcfarlane syndrome	12.0
4	trichomegaly	11.5
5	floating-harbor syndrome	11.4
6	acromicric dysplasia	11.3
7	kabuki syndrome 1	11.1
8	rubinstein-taybi syndrome 1	11.1
9	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	11.1
10	cohen syndrome	11.1
11	filippi syndrome	11.1
12	phelan-mcdermid syndrome	11.1
13	rubinstein-taybi syndrome 2	11.1
14	chops syndrome	11.1
15	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	11.1
16	7q11.23 duplication syndrome	11.1
17	pacs1 syndrome	11.1
18	partial trisomy distal 4q	10.3	PES1 NIPBL
19	cornelia de lange syndrome 1	10.2	RAD21 NIPBL HDAC8
20	osgood-schlatter's disease	10.2	PES1 ESCO1
21	eyelid disease	10.1	SMC3 SMC1A PES1 NIPBL
22	diaphragmatic hernia, congenital	10.1	SMC3 SMC1A PES1 NIPBL
23	orofacial cleft	10.0	PES1 PAGR1 NIPBL ESCO2
24	dermatitis, atopic	9.9
25	chronic conjunctivitis	9.9
26	dermatitis	9.9
27	hypotrichosis	9.9
28	conjunctivitis	9.9
29	retinal degeneration	9.9
30	keratoconjunctivitis	9.9
31	vernal keratoconjunctivitis	9.9
32	hair follicle neoplasm	9.9	PAGR1 CREBBP
33	serine deficiency	9.8	SUMF2 MRPS17
34	atrial heart septal defect	9.8	SHOC2 PES1 PAGR1 NIPBL CREBBP
35	phosphoserine phosphatase deficiency	9.7	SUMF2 MRPS17
36	holoprosencephaly	9.7	SMC3 SMC1A RAD21 KMT2D
37	chromosome 16p13.3 deletion syndrome, proximal	9.5	PAGR1 NIPBL KMT2D HDAC8 CREBBP
38	chronic atrial and intestinal dysrhythmia	9.5	SMC3 SMC1A RAD21 PDS5A NIPBL HDAC8
39	kbg syndrome	9.5	SMC3 SMC1A RAD21 NIPBL KMT2D HDAC8
40	sc phocomelia syndrome	9.5	SMC3 SMC1A RAD21 PDS5A NIPBL ESCO2
41	warsaw breakage syndrome	9.5	SMC3 SMC1A RAD21 PDS5A NIPBL ESCO2
42	microcephaly	9.3	SMC1A PAGR1 NIPBL HDAC8 ESCO2 CREBBP
43	roberts syndrome	9.3	SMC3 SMC1A RAD21 PDS5A NIPBL HDAC8
44	autosomal dominant non-syndromic intellectual disability	9.1	TMEM242 SMC3 SMC1A RAD21 NIPBL KMT2D

Graphical network of the top 20 diseases related to Familial Isolated Trichomegaly:

Sources

Symptoms & Phenotypes for Familial Isolated Trichomegaly

MGI Mouse Phenotypes related to Familial Isolated Trichomegaly:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	9.81	CREBBP ESCO2 HDAC8 KMT2D NIPBL PAGR1
2	craniofacial	MP:0005382	9.8	CREBBP HDAC8 KMT2D NIPBL PDS5A PES1
3	growth/size/body region	MP:0005378	9.73	ARID1B CREBBP ESCO1 ESCO2 HDAC8 KMT2D
4	mortality/aging	MP:0010768	9.44	ARID1B CREBBP ESCO2 HDAC8 KMT2D NIPBL

Sources

Drugs & Therapeutics for Familial Isolated Trichomegaly

Search Clinical Trials , NIH Clinical Center for Familial Isolated Trichomegaly

Sources

Genetic Tests for Familial Isolated Trichomegaly

Sources

Anatomical Context for Familial Isolated Trichomegaly

MalaCards organs/tissues related to Familial Isolated Trichomegaly:

⁴⁰

Skin, Eye, Testis, Pituitary

Sources

Publications for Familial Isolated Trichomegaly

Articles related to Familial Isolated Trichomegaly:

(show top 50) (show all 71)

#	Title	Authors	PMID	Year
1	Evaluating distribution and variation of strains near eyes in blinking using digital image correlation. ⁶¹	Sakai K...Igarashi T	32207543	2020
2	A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome. ⁶¹	Rodriguez P...Asturias K	32328333	2020
3	[Floating-Harbor syndrome: a case report and literature review]. ⁶¹	Li RM...Sang YM	31874661	2019
4	Clinical and molecular spectrum of CHOPS syndrome. ⁶¹	Raible SE...Izumi K	31058441	2019
5	The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ⁶¹	van der Sluijs PJ...Santen GWE	30349098	2019
6	Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome. ⁶¹	Kim WJ	31620628	2019
7	Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. ⁶¹	Li M...Jin D	30587846	2019
8	Ophthalmologic findings in the Cornelia de Lange syndrome. ⁶¹	Shi A...Levin AV	30767692	2019
9	Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. ⁶¹	Singh M...Pawar M	29675643	2018
10	Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. ⁶¹	Kim YM...Lee BH	29235540	2018
11	Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ⁶¹	Sun Y...Yu Y	27759909	2017
12	A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. ⁶¹	Vahabi A...Rad IA	28878839	2017
13	Minor physical anomalies in neurodevelopmental disorders: a twin study. ⁶¹	Myers L...Bolte S	29209412	2017
14	Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. ⁶¹	Aharoni S...Crosby AH	27852232	2016
15	Clicking Eyelids: A New Finding of Prostaglandin-Associated Periorbitopathy. ⁶¹	Skorin L...Dailey KH	27055061	2016
16	[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America]. ⁶¹	Ruiz Botero F...Isaza de Lourido C	26914082	2016
17	Eyelashes divert airflow to protect the eye. ⁶¹	Amador GJ...Hu DL	25716186	2015
18	Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation. ⁶¹	Sheng X...Liu Y	23952657	2015
19	Ocular side effects and trichomegaly of eyelashes induced by erlotinib: a case report and review of the literature. ⁶¹	Celik T...Kosker M	25249292	2015
20	The deletion 22q13 syndrome: a new case. ⁶¹	Karaman A...Goksu K	26043508	2015
21	De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features. ⁶¹	Varvagiannis K...Manolakos E	25606410	2014
22	PNPLA6-Related Disorders ⁶¹	Synofzik M...Zuchner S	25299038	2014
23	Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. ⁶¹	Kosho T...Coffin-Siris Syndrome International Collaborators	25168959	2014
24	Cornelia de-lange syndrome: a case report. ⁶¹	Mehta DN...Bhatia R	25206204	2013
25	Erlotinib induced trichomegaly of the eyelashes. ⁶¹	Jeon SH...Hong GJ	23390452	2013
26	Cetuximab-associated elongation of the eyelashes: case report and review of eyelash trichomegaly secondary to epidermal growth factor receptor inhibitors. ⁶¹	Cohen PR...Kurzrock R	20726623	2011
27	Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity. ⁶¹	Alkuraya FS	20684000	2010
28	De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature. ⁶¹	Kitsiou-Tzeli S...Kanavakis E	20575009	2010
29	Synophrys. ⁶¹	Mohrenschlager M...Steiner C	20152950	2010
30	Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. ⁶¹	Takatsuki S...Yamamoto T	20358620	2010
31	Bilateral milia en plaque of the eyelids: long eyelashes and unibrow--case report and review of literature. ⁶¹	Wollina U	20100256	2010
32	Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. ⁶¹	Xin B...Wang H	20018682	2010
33	A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation. ⁶¹	Reddy S...Velinov M	19772933	2009
34	Coats' disease, megalopapilla and Cornelia de Lange syndrome. ⁶¹	Barakat MR...Sears JE	19373684	2009
35	Developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure: a new metabolic syndrome? ⁶¹	Megarbane A...Jalkh N	19012336	2008
36	Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report. ⁶¹	Manolakos E...Petersen MB	19014423	2008
37	Estimating corneal surface topography in videokeratoscopy in the presence of strong signal interference. ⁶¹	Alonso-Caneiro D...Collins MJ	18838363	2008
38	2q24-q31 deletion: report of a case and review of the literature. ⁶¹	Pescucci C...Renieri A	17088112	2007
39	A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype. ⁶¹	Seidahmed MZ...Abomelha AM	16470853	2006
40	Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction). ⁶¹	Haimi M...Gershoni-Baruch R	16152639	2005
41	Cornelia de Lange Syndrome ⁶¹	Deardorff MA...Krantz ID	20301283	2005
42	Tetraploid/diploid mosaicism with generalized aggressive periodontitis. ⁶¹	Tozum TF...Tuncbilek E	16171449	2005
43	Long eyelashes in a case series of 93 children with vernal keratoconjunctivitis. ⁶¹	Pucci N...Vierucci A	15629970	2005
44	Hypertrichosis, Fallot tetralogy, growth and developmental delay. ⁶¹	Verloes A...Misson JP	15365462	2004
45	Eyelash length in children and adolescents with allergic diseases. ⁶¹	Levy Y...Danon YL	15461756	2004
46	Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. ⁶¹	Elliott AM...Chudley AE	15194949	2004
47	[Niikawa-Kuroki (Kabuki) syndrome and hearing impairment]. ⁶¹	Luerssen K...Ptok M	15138652	2004
48	Hypotrichosis, long eyelashes and atopic dermatitis: a new syndrome? ⁶¹	Alpsoy E	15096163	2004
49	Second reported patient with del(1)(p32.1p32.3) and similar clinical features suggesting a recognizable chromosomal syndrome. ⁶¹	Zinner SH...Batanian JR	12955770	2003
50	Very long eyelashes, long eyebrows, sparse hair, and mental retardation in two unrelated boys: An atypical form of Oliver-McFarlane syndrome without retinal degeneration, or a new clinical entity? ⁶¹	Kondoh T...Shirahata A	12838570	2003

Sources

Genes for Familial Isolated Trichomegaly

Genes related to Familial Isolated Trichomegaly (0 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	8.44	DISEASES inferred ¹⁵ ¹⁵
2	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	7.66	DISEASES inferred ¹⁵
3	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	7.21	DISEASES inferred ¹⁵
4	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	7.12	DISEASES inferred ¹⁵
5	RAD21	RAD21 Cohesin Complex Component	Protein Coding	6.53	DISEASES inferred ¹⁵
6	TMEM242	Transmembrane Protein 242	Protein Coding	6.36	DISEASES inferred ¹⁵
7	HDAC8	Histone Deacetylase 8	Protein Coding	6.12	DISEASES inferred ¹⁵
8	PES1	Pescadillo Ribosomal Biogenesis Factor 1	Protein Coding	6.06	DISEASES inferred ¹⁵
9	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	5.96	DISEASES inferred ¹⁵
10	PRR23B	Proline Rich 23B	Protein Coding	5.82	DISEASES inferred ¹⁵
11	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	5.75	DISEASES inferred ¹⁵
12	ESCO1	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 1	Protein Coding	5.74	DISEASES inferred ¹⁵
13	ESCO2	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2	Protein Coding	5.67	DISEASES inferred ¹⁵
14	PDS5A	PDS5 Cohesin Associated Factor A	Protein Coding	5.64	DISEASES inferred ¹⁵
15	CREBBP	CREB Binding Protein	Protein Coding	5.64	DISEASES inferred ¹⁵
16	MRPS17	Mitochondrial Ribosomal Protein S17	Protein Coding	5.56	DISEASES inferred ¹⁵
17	SHANK1	SH3 And Multiple Ankyrin Repeat Domains 1	Protein Coding	5.53	DISEASES inferred ¹⁵
18	LRRC74B	Leucine Rich Repeat Containing 74B	Protein Coding	5.52	DISEASES inferred ¹⁵
19	SUMF2	Sulfatase Modifying Factor 2	Protein Coding	5.51	DISEASES inferred ¹⁵
20	KMT2D	Lysine Methyltransferase 2D	Protein Coding	5.42	DISEASES inferred ¹⁵
21	ZDHHC14	Zinc Finger DHHC-Type Palmitoyltransferase 14	Protein Coding	5.41	DISEASES inferred ¹⁵
22	RABL2A	RAB, Member Of RAS Oncogene Family Like 2A	Protein Coding	5.36	DISEASES inferred ¹⁵

Sources

Variations for Familial Isolated Trichomegaly

Sources

Expression for Familial Isolated Trichomegaly

Search GEO for disease gene expression data for Familial Isolated Trichomegaly.

Sources

Pathways for Familial Isolated Trichomegaly

Pathways related to Familial Isolated Trichomegaly according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	13.02	SMC3 SMC1A RAD21 PDS5A NIPBL HDAC8
2	Mitotic Metaphase and Anaphase ⁶⁵ Show member pathways Mitotic Anaphase ⁶⁵ Separation of Sister Chromatids ⁶⁵	12.49	SMC3 SMC1A RAD21 PDS5A HDAC8
3	Mitotic Prometaphase ⁶⁵ Show member pathways Condensation of Prometaphase Chromosomes ⁶⁵ Resolution of Sister Chromatid Cohesion ⁶⁵ RHO GTPases Activate Formins ⁶⁵	12.09	SMC3 SMC1A RAD21 PDS5A HDAC8
4	Chromatin Regulation / Acetylation ⁴	12.03	SMC3 SMC1A RAD21 CREBBP
5	Cell cycle ³⁶ ¹	11.71	SMC3 SMC1A RAD21 HDAC8 CREBBP
6	Cell cycle_Spindle assembly and chromosome separation ²²	11.56	SMC3 SMC1A RAD21
7	Mitotic Telophase/Cytokinesis ⁶⁵ Show member pathways Cohesin Loading onto Chromatin ⁶⁵	10.44	SMC3 SMC1A RAD21 PDS5A NIPBL

Sources

GO Terms for Familial Isolated Trichomegaly

Cellular components related to Familial Isolated Trichomegaly according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.25	SMC3 SMC1A SHOC2 RAD21 PES1 PDS5A
2	nucleoplasm	GO:0005654	10.13	SMC3 SMC1A SHOC2 RAD21 PES1 PDS5A
3	chromosome, centromeric region	GO:0000775	9.67	SMC3 SMC1A RAD21 PDS5A
4	nuclear matrix	GO:0016363	9.63	SMC3 SMC1A RAD21
5	chromosome	GO:0005694	9.56	SMC3 SMC1A RAD21 PES1 PDS5A NIPBL
6	mitotic spindle pole	GO:0097431	9.48	SMC3 SMC1A
7	MLL3/4 complex	GO:0044666	9.43	PAGR1 KMT2D
8	cohesin complex	GO:0008278	9.43	SMC3 SMC1A RAD21
9	meiotic cohesin complex	GO:0030893	9.33	SMC3 SMC1A RAD21
10	chromatin	GO:0000785	9.1	SMC3 RAD21 PDS5A NIPBL ESCO2 ESCO1

Biological processes related to Familial Isolated Trichomegaly according to GeneCards Suite gene sharing:

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell division	GO:0051301	9.85	SMC3 SMC1A RAD21 PDS5A
2	cellular response to DNA damage stimulus	GO:0006974	9.85	SMC3 SMC1A RAD21 PAGR1 NIPBL
3	DNA repair	GO:0006281	9.77	SMC3 SMC1A RAD21 PDS5A PAGR1
4	cell cycle	GO:0007049	9.7	SMC3 SMC1A RAD21 PDS5A NIPBL ESCO2
5	meiotic cell cycle	GO:0051321	9.69	SMC3 SMC1A RAD21
6	double-strand break repair	GO:0006302	9.61	RAD21 NIPBL ESCO2
7	stem cell population maintenance	GO:0019827	9.58	SMC3 SMC1A NIPBL
8	beta-catenin-TCF complex assembly	GO:1904837	9.56	KMT2D CREBBP
9	regulation of mitotic spindle assembly	GO:1901673	9.54	SMC3 SMC1A
10	histone H3-K4 methylation	GO:0051568	9.52	PAGR1 KMT2D
11	protein localization to chromatin	GO:0071168	9.49	RAD21 ESCO2
12	positive regulation of intracellular estrogen receptor signaling pathway	GO:0033148	9.48	PAGR1 KMT2D
13	regulation of DNA replication	GO:0006275	9.43	SMC3 ESCO2 ESCO1
14	post-translational protein acetylation	GO:0034421	9.32	ESCO2 ESCO1
15	mitotic sister chromatid cohesion	GO:0007064	9.13	SMC1A PDS5A NIPBL
16	sister chromatid cohesion	GO:0007062	9.1	SMC3 SMC1A RAD21 HDAC8 ESCO2 ESCO1

Molecular functions related to Familial Isolated Trichomegaly according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:0003682	9.65	SMC3 SMC1A RAD21 NIPBL CREBBP
2	peptide-lysine-N-acetyltransferase activity	GO:0061733	9.16	ESCO1 CREBBP
3	acetyltransferase activity	GO:0016407	9.13	ESCO2 ESCO1 CREBBP
4	mediator complex binding	GO:0036033	8.8	SMC3 SMC1A NIPBL

Sources

Sources for Familial Isolated Trichomegaly

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia