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

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Aliases & Classifications for Familial Isolated Trichomegaly

MalaCards integrated aliases for Familial Isolated Trichomegaly:

Name: Familial Isolated Trichomegaly ¹¹ ⁵⁸ ¹⁴

Long Eyelashes ¹¹

Tcmgly ¹¹

Characteristics:

Inheritance:

Autosomal recessive ⁵⁸

Prevelance:

<1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Neonatal ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare skin diseases

External Ids:

Disease Ontology ¹¹ DOID:0111566

Orphanet ⁵⁸ ORPHA411788

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Summaries for Familial Isolated Trichomegaly

Orphanet: ⁵⁸ Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.

MalaCards based summary: Familial Isolated Trichomegaly, also known as long eyelashes, is related to trichomegaly and wiedemann-steiner syndrome. An important gene associated with Familial Isolated Trichomegaly is FGF5 (Fibroblast Growth Factor 5), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include skin, testis and pituitary, and related phenotypes are embryo and adipose tissue

Disease Ontology: ¹¹ 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.

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Related Diseases for Familial Isolated Trichomegaly

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

(show top 50) (show all 88)

#	Related Disease	Score	Top Affiliating Genes
1	trichomegaly	32.6	FGF5 ARID1B
2	wiedemann-steiner syndrome	31.9	SMC3 SMC1A KMT2A ARID1B
3	schuurs-hoeijmakers syndrome	31.8	PACS1 ANKRD11
4	kabuki syndrome 1	31.0	PAGR1 KMT2D KMT2A KDM6A CREBBP ANKRD11
5	cornelia de lange syndrome	30.5	SMC3 SMC1A RAD21 NIPBL KMT2A HDAC8
6	hypertrichosis	29.3	SMC3 SMC1A SMARCE1 NIPBL KMT2A FGF5
7	oliver-mcfarlane syndrome	11.3
8	floating-harbor syndrome	11.3
9	acromicric dysplasia	11.2
10	eyebrows, duplication of, with stretchable skin and syndactyly	11.1
11	hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation	11.1
12	rubinstein-taybi syndrome 1	11.0
13	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1	11.0
14	cohen syndrome	11.0
15	filippi syndrome	11.0
16	congenital disorder of glycosylation, type iib	11.0
17	phelan-mcdermid syndrome	11.0
18	goldberg-shprintzen syndrome	11.0
19	williams-beuren region duplication syndrome	11.0
20	rubinstein-taybi syndrome 2	11.0
21	chops syndrome	11.0
22	corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia	11.0
23	mucopolysaccharidosis-plus syndrome	11.0
24	facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	11.0
25	al gazali sabrinathan nair syndrome	11.0
26	osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	11.0
27	mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	11.0
28	core binding factor acute myeloid leukemia	10.3	RAD21 PAGR1
29	rubinstein taybi like syndrome	10.2	KMT2D KMT2A
30	interatrial communication	10.2	HDAC8 CREBBP
31	glass syndrome	10.2	SMC1A NIPBL ANKRD11
32	neonatal leukemia	10.2	KMT2A CREBBP
33	diaphragmatic hernia, congenital	10.2	SMC3 SMC1A NIPBL
34	cornelia de lange syndrome 2	10.2	SMC1A NIPBL CREBBP
35	bladder small cell carcinoma	10.2	KMT2D CREBBP
36	intellectual disability - hypoplastic corpus callosum - preauricular tag	10.2	CREBBP ARID1B
37	non-syndromic x-linked intellectual disability 93	10.2	KMT2D KMT2A
38	hair follicle neoplasm	10.2	PAGR1 CREBBP
39	trichorhinophalangeal syndrome, type ii	10.2	SMC3 SMC1A RAD21 NIPBL
40	ezb diffuse large b-cell lymphoma	10.2	KMT2D CREBBP
41	syndromic x-linked intellectual disability nascimento type	10.1	KMT2D KMT2A
42	corpus callosum, agenesis of	10.1	CREBBP ARID1B
43	chromosome 6q24-q25 deletion syndrome	10.1	TMEM242 ARID1B
44	cavernous sinus meningioma	10.1	SMARCE1 KMT2D
45	alpha-thalassemia	10.1	SRCAP SMC3 SMC1A NIPBL
46	acute myelomonocytic leukemia	10.1	KMT2A CREBBP
47	bartholin's gland adenoid cystic carcinoma	10.1	KDM6A CREBBP
48	high-grade b-cell lymphoma double-hit/triple-hit	10.1	KMT2D CREBBP
49	cornelia de lange syndrome 3 with or without midline brain defects	10.1	SMC3 SMC1A RAD21 NIPBL HDAC8
50	cornelia de lange syndrome 4 with or without midline brain defects	10.1	SMC3 SMC1A RAD21 NIPBL HDAC8

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

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Symptoms & Phenotypes for Familial Isolated Trichomegaly

GenomeRNAi Phenotypes related to Familial Isolated Trichomegaly according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.15	ANKRD11 ARID1B CREBBP ERAS ESCO1 FGF5
2	no effect	GR00402-S-2	10.15	ANKRD11 ARID1B CREBBP ERAS ESCO1 HDAC8

MGI Mouse Phenotypes related to Familial Isolated Trichomegaly:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	embryo	MP:0005380	9.91	ANKRD11 CREBBP HDAC8 KDM6A KMT2A KMT2D
2	adipose tissue	MP:0005375	9.87	ARID1B CREBBP ESCO1 KMT2D NIPBL SMC3
3	craniofacial	MP:0005382	9.76	ANKRD11 CREBBP HDAC8 KDM6A KMT2A KMT2D
4	immune system	MP:0005387	9.73	ANKRD11 ARID1B CREBBP KDM6A KMT2A KMT2D
5	mortality/aging	MP:0010768	9.53	ANKRD11 ARID1B CREBBP HDAC8 KDM6A KMT2A

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Drugs & Therapeutics for Familial Isolated Trichomegaly

Search Clinical Trials, NIH Clinical Center for Familial Isolated Trichomegaly

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Genetic Tests for Familial Isolated Trichomegaly

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Anatomical Context for Familial Isolated Trichomegaly

Organs/tissues related to Familial Isolated Trichomegaly:

MalaCards : Skin, Testis, Pituitary, Eye

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Publications for Familial Isolated Trichomegaly

Articles related to Familial Isolated Trichomegaly:

(show top 50) (show all 88)

#	Title	Authors	PMID	Year
1	Wiedemann-Steiner Syndrome: Case Report and Review of Literature. ⁶²	Yu H...Wu W	36291481	2022
2	Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome. ⁶²	Simmers R...Couser N	35762114	2022
3	A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. ⁶²	Sofronova V...Otomo T	35879281	2022
4	Wiedemann-Steiner Syndrome ⁶²	Sheppard SE...Quintero-Rivera F	35617449	2022
5	Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes. ⁶²	Hutchison DM...Mesinkovska NA	34919300	2022
6	Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder. ⁶²	Doddato G...Ariani F	35456494	2022
7	Lady with Long Eyelashes…! ⁶²	Inamadar SS...Kumar NSP	35531491	2022
8	Ocular manifestations of Nabais Sa-de Vries Syndrome type 1. ⁶²	Zhang L...Couser NL	35892095	2022
9	Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea. ⁶²	Lee Y...Lee BH	34706719	2021
10	[Treatment and genetic analysis of a child with Kabuki syndrome type 2 and secondary pulmonary infection due to a de novo variant of KDM6A gene]. ⁶²	Chen W...Zhou H	34247377	2021
11	Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome. ⁶²	Elalaoui SC...Sefiani A	34795756	2021
12	Lower Eyelid Horizontal Tightening in Prostaglandin Associated Periorbitopathy. ⁶²	Procianoy F...J L Bocaccio F	32890116	2021
13	Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy. ⁶²	Haberlandt E...Janecke AR	33471954	2021
14	Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature. ⁶²	Ercoskun P...Yuce-Kahraman C	33776628	2021
15	Wiedemann-Steiner Syndrome as a Differential Diagnosis of Cornelia de Lange Syndrome Using Targeted Next-Generation Sequencing: A Case Report. ⁶²	Demir S...Atli E	33776627	2021
16	A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review. ⁶²	Li R...Zhu H	34659104	2021
17	Floating-Harbor Syndrome: A Rare Case Report. ⁶²	Singana T...Sankriti AM	33623349	2020
18	Evaluating distribution and variation of strains near eyes in blinking using digital image correlation. ⁶²	Sakai K...Igarashi T	32207543	2020
19	A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome. ⁶²	Rodriguez P...Asturias K	32328333	2020
20	[Floating-Harbor syndrome: a case report and literature review]. ⁶²	Li RM...Sang YM	31874661	2019
21	Clinical and molecular spectrum of CHOPS syndrome. ⁶²	Raible SE...Izumi K	31058441	2019
22	The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. ⁶²	van der Sluijs PJ...Santen GWE	30349098	2019
23	Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome. ⁶²	Kim WJ	31620628	2019
24	Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. ⁶²	Li M...Jin D	30587846	2019
25	Ophthalmologic findings in the Cornelia de Lange syndrome. ⁶²	Shi A...Levin AV	30767692	2019
26	Eyelash length for the diagnosis of atopic dermatitis and ichthyosis vulgaris in children-a case control study. ⁶²	Singh M...Pawar M	29675643	2018
27	Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. ⁶²	Kim YM...Lee BH	29235540	2018
28	Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. ⁶²	Sun Y...Yu Y	27759909	2017
29	Minor physical anomalies in neurodevelopmental disorders: a twin study. ⁶²	Myers L...Bolte S	29209412	2017
30	A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. ⁶²	Vahabi A...Rad IA	28878839	2017
31	Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel. ⁶²	Aharoni S...Crosby AH	27852232	2016
32	Clicking Eyelids: A New Finding of Prostaglandin-Associated Periorbitopathy. ⁶²	Skorin L...Dailey KH	27055061	2016
33	[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America]. ⁶²	Ruiz Botero F...Isaza de Lourido C	26914082	2016
34	Eyelashes divert airflow to protect the eye. ⁶²	Amador GJ...Hu DL	25716186	2015
35	Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation. ⁶²	Sheng X...Liu Y	23952657	2015
36	Ocular side effects and trichomegaly of eyelashes induced by erlotinib: a case report and review of the literature. ⁶²	Celik T...Kosker M	25249292	2015
37	The deletion 22q13 syndrome: a new case. ⁶²	Karaman A...Goksu K	26043508	2015
38	De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features. ⁶²	Varvagiannis K...Manolakos E	25606410	2014
39	PNPLA6 Disorders ⁶²	Synofzik M...Zuchner S	25299038	2014
40	Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. ⁶²	Kosho T...Coffin-Siris Syndrome International Collaborators	25168959	2014
41	Cornelia de-lange syndrome: a case report. ⁶²	Mehta DN...Bhatia R	25206204	2013
42	Erlotinib induced trichomegaly of the eyelashes. ⁶²	Jeon SH...Hong GJ	23390452	2013
43	Cetuximab-associated elongation of the eyelashes: case report and review of eyelash trichomegaly secondary to epidermal growth factor receptor inhibitors. ⁶²	Cohen PR...Kurzrock R	20726623	2011
44	Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity. ⁶²	Alkuraya FS	20684000	2010
45	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. ⁶²	Kitsiou-Tzeli S...Kanavakis E	20575009	2010
46	Synophrys. ⁶²	Mohrenschlager M...Steiner C	20152950	2010
47	Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6. ⁶²	Takatsuki S...Yamamoto T	20358620	2010
48	Bilateral milia en plaque of the eyelids: long eyelashes and unibrow--case report and review of literature. ⁶²	Wollina U	20100256	2010
49	Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. ⁶²	Xin B...Wang H	20018682	2010
50	A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation. ⁶²	Reddy S...Velinov M	19772933	2009

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Genes for Familial Isolated Trichomegaly

Genes related to Familial Isolated Trichomegaly (1 elite genes):

(show all 24)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FGF5	Fibroblast Growth Factor 5	Protein Coding	354.9	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴	24989505
2	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	7.42	DISEASES inferred ¹⁴
3	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	7.24	DISEASES inferred ¹⁴
4	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	7.03	DISEASES inferred ¹⁴
5	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	6.83	DISEASES inferred ¹⁴ ¹⁴
6	RAD21	RAD21 Cohesin Complex Component	Protein Coding	6.61	DISEASES inferred ¹⁴
7	HDAC8	Histone Deacetylase 8	Protein Coding	6.36	DISEASES inferred ¹⁴
8	KMT2A	Lysine Methyltransferase 2A	Protein Coding	6.08	DISEASES inferred ¹⁴
9	ANKRD11	Ankyrin Repeat Domain Containing 11	Protein Coding	6.03	DISEASES inferred ¹⁴
10	SRCAP	Snf2 Related CREBBP Activator Protein	Protein Coding	6	DISEASES inferred ¹⁴
11	VPS13B	Vacuolar Protein Sorting 13 Homolog B	Protein Coding	6	DISEASES inferred ¹⁴
12	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	5.97	DISEASES inferred ¹⁴
13	PACS1	Phosphofurin Acidic Cluster Sorting Protein 1	Protein Coding	5.72	DISEASES inferred ¹⁴
14	ERAS	ES Cell Expressed Ras	Protein Coding	5.59	DISEASES inferred ¹⁴
15	CREBBP	CREB Binding Protein	Protein Coding	5.55	DISEASES inferred ¹⁴
16	KMT2D	Lysine Methyltransferase 2D	Protein Coding	5.48	DISEASES inferred ¹⁴
17	TMEM242	Transmembrane Protein 242	Protein Coding	5.46	DISEASES inferred ¹⁴
18	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	5.39	DISEASES inferred ¹⁴
19	ESCO1	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 1	Protein Coding	5.38	DISEASES inferred ¹⁴
20	KDM6A	Lysine Demethylase 6A	Protein Coding	5.3	DISEASES inferred ¹⁴
21	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	5.28	DISEASES inferred ¹⁴
22	PRR23B	Proline Rich 23B	Protein Coding	5.26	DISEASES inferred ¹⁴
23	PDS5A	PDS5 Cohesin Associated Factor A	Protein Coding	5.25	DISEASES inferred ¹⁴
24	ESCO2	Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2	Protein Coding	5.24	DISEASES inferred ¹⁴

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Variations for Familial Isolated Trichomegaly

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Expression for Familial Isolated Trichomegaly

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

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Pathways for Familial Isolated Trichomegaly

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

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin organization ⁶⁶ Show member pathways Chromatin modifying enzymes ⁶⁶ HATs acetylate histones ⁶⁶	12.75	SMARCE1 KMT2D KMT2A KDM6A HDAC8 CREBBP
2	Chromatin Regulation / Acetylation ³	12.14	SMC3 SMC1A RAD21 KMT2A KDM6A CREBBP
3	Transcription Ligand-dependent activation of the ESR1/SP pathway ²² Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²²	11.43	SMARCE1 CREBBP ARID1B
4	Pathways affected in adenoid cystic carcinoma ⁷⁴	11.15	SRCAP SMC1A SMARCE1 KDM6A CREBBP
5	Mitotic Telophase/Cytokinesis ⁶⁶ Show member pathways Cohesin Loading onto Chromatin ⁶⁶	10.82	SMC3 SMC1A RAD21 NIPBL
6	Cohesin complex - Cornelia de Lange syndrome ⁷⁴	10.62	SMC3 SMC1A RAD21 NIPBL HDAC8 ESCO1
7	SMC1/SMC3 role in DNA damage - Cornelia de Lange Syndrome ⁷⁴	10.54	SMC3 SMC1A RAD21

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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	nucleoplasm	GO:0005654	10.58	NIPBL KMT2D KMT2A KDM6A HDAC8 ESCO1
2	chromosome	GO:0005694	10.07	SMC1A SMC3 RAD21 NIPBL HDAC8 ESCO1
3	nuclear matrix	GO:0016363	10.01	RAD21 SMARCE1 SMC1A SMC3
4	MLL3/4 complex	GO:0044666	9.8	PAGR1 KMT2D KDM6A
5	bBAF complex	GO:0140092	9.76	SMARCE1 ARID1B
6	cohesin complex	GO:0008278	9.73	RAD21 SMC1A SMC3
7	meiotic cohesin complex	GO:0030893	9.35	RAD21 SMC1A SMC3
8	DNA packaging complex	GO:0044815	9.33	SMC3 SMC1A ARID1B
9	histone methyltransferase complex	GO:0035097	9.17	KDM6A KMT2A KMT2D PAGR1

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin remodeling	GO:0006338	10.08	SRCAP SMARCE1 KDM6A ARID1B
2	chromatin organization	GO:0006325	9.97	SRCAP SMARCE1 KMT2D KMT2A KDM6A HDAC8
3	histone H3-K4 methylation	GO:0051568	9.92	PAGR1 KMT2D KMT2A KDM6A
4	positive regulation of intracellular estrogen receptor signaling pathway	GO:0033148	9.8	PAGR1 KMT2D
5	histone H3-K4 monomethylation	GO:0097692	9.76	KMT2D KMT2A
6	mitotic sister chromatid cohesion	GO:0007064	9.76	SMC3 SMC1A NIPBL ESCO1
7	replication-born double-strand break repair via sister chromatid exchange	GO:1990414	9.73	RAD21 NIPBL
8	establishment of meiotic sister chromatid cohesion	GO:0034089	9.73	SMC3 SMC1A RAD21
9	histone H3-K4 dimethylation	GO:0044648	9.71	KMT2D KMT2A
10	establishment of mitotic sister chromatid cohesion	GO:0034087	9.56	NIPBL RAD21 SMC1A SMC3
11	sister chromatid cohesion	GO:0007062	9.28	SMC3 SMC1A RAD21 HDAC8 ESCO1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription coactivator activity	GO:0003713	9.85	ARID1B CREBBP KMT2D SMARCE1 SRCAP
2	chromatin binding	GO:0003682	9.8	CREBBP KMT2A NIPBL RAD21 SMARCE1 SMC1A
3	peptide-lysine-N-acetyltransferase activity	GO:0061733	9.56	CREBBP ESCO1
4	mediator complex binding	GO:0036033	9.1	NIPBL SMC1A SMC3

Sources

Sources for Familial Isolated Trichomegaly

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: FML286 MIFTS: 34	Familial Isolated Trichomegaly Categories: Eye diseases, Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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