EAC
MCID: MLT048
MIFTS: 31

Multiple Familial Trichoepithelioma (EAC)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Multiple Familial Trichoepithelioma

MalaCards integrated aliases for Multiple Familial Trichoepithelioma:

Name: Multiple Familial Trichoepithelioma 53 25 37
Familial Multiple Trichoepitheliomata 25 29 6 73
Hereditary Multiple Benign Cystic Epithelioma 53 25
Familial Multiple Trichoepithelioma 53 59
Brooke-Fordyce Trichoepitheliomas 53 25
Epithelioma Adenoides Cysticum of Brooke 25
Trichoepitheliomata, Multiple, Familial 40
Trichoepithelioma Multiple Familial 53
Epithelioma Adenoides Cysticum 53
Trichoepithelioma 73
Eac 25
Mft 25

Characteristics:

Orphanet epidemiological data:

59
familial multiple trichoepithelioma
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

Orphanet 59 ORPHA867
MESH via Orphanet 45 C536552
UMLS via Orphanet 74 C1275122
ICD10 via Orphanet 34 D23.3
KEGG 37 H00829

Summaries for Multiple Familial Trichoepithelioma

NIH Rare Diseases : 53 Multiple familial trichoepithelioma is a genetic disorder characterized by multiple smooth, round, firm, skin-colored tumors (trichoepitheliomas) that usually occur on the face, but may also occur on the scalp, neck, and trunk. The tumors are from immature hair follicles. They usually first develop during childhood or adolescence and may grow larger and increase in number over time. The genetic disorder can be caused by mutations in the CYLD gene or by mutations in other genes which are still unknown. The condition may be divided in two subtypes, multiple familial trichoepithelioma type 1 and multiple familial trichoepithelioma type 2.  Susceptibility to multiple familial trichoepithelioma is inherited in an autosomal dominant fashion, which means one copy of the mutated gene in each cell increases the risk of developing this disorder. However, a second, non-inherited (acquired) mutation is required for the tumors to develop in this disorder. Treatment often involves surgery to remove a single lesion and cryosurgery or laser surgery for multiple ones.

MalaCards based summary : Multiple Familial Trichoepithelioma, also known as familial multiple trichoepitheliomata, is related to trichoepithelioma, multiple familial, 2 and trichoepithelioma, multiple familial, 1. An important gene associated with Multiple Familial Trichoepithelioma is CYLD (CYLD Lysine 63 Deubiquitinase). The drugs Abraxane and Alimta have been mentioned in the context of this disorder. Affiliated tissues include skin and myeloid, and related phenotypes are subcutaneous nodule and telangiectasia of the skin

Genetics Home Reference : 25 Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.

Wikipedia : 76 Multiple familial trichoepithelioma (also known as Brooke�??Spiegler syndrome and epithelioma adenoides... more...

Related Diseases for Multiple Familial Trichoepithelioma

Graphical network of the top 20 diseases related to Multiple Familial Trichoepithelioma:



Diseases related to Multiple Familial Trichoepithelioma

Symptoms & Phenotypes for Multiple Familial Trichoepithelioma

Human phenotypes related to Multiple Familial Trichoepithelioma:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001482
2 telangiectasia of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0100585
3 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
4 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671

Drugs & Therapeutics for Multiple Familial Trichoepithelioma

FDA approved drugs:

(show top 50) (show all 113)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abraxane 18 49 PACLITAXEL Celgene October 2012
2
Alimta 18 49 PEMETREXED (also Pemetrexed Disodium) Eli Lilly February 2004
3
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
4
Beleodaq 18 49 BELINOSTAT Spectrum Pharmaceuticals July 2014
5
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
6
Blincyto 18 49 BLINATUMOMAB Amgen December 2014
7
Busulfex 18 49 BUSULFAN Orphan Medical February 1999
8
CEA-Scan 18 Immunomedics April 1996
9
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
10
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
11
Doxil 18 49 DOXORUBICIN HYDROCHLORIDE Alza June 1999
12
Ellence 18 49 EPIRUBICIN HYDROCHLORIDE Pharmacia & Upjohn September 1999
13
Elliotts B Solution 18 CALCIUM CHLORIDE; DEXTROSE; MAGNESIUM SULFATE; POTASSIUM CHLORIDE; SODIUM BICARBONATE; SODIUM CHLORIDE; SODIUM PHOSPHATE, DIBASIC, HEPTAHYDRATE Orphan Medical October 1996
14
Eloxatin 18 49 OXALIPLATIN Sanofi-aventis August 2002
15
Erbitux 18 49 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
16
Erwinaze 18 49 asparaginase Erwinia chrysanthemi Eusa Pharma November of 2011
17
Evista 18 49 RALOXIFENE HYDROCHLORIDE Eli Lilly September 2007
18
Farydak 18 49 PANOBINOSTAT LACTATE Novartis February 2015
19
Femara 18 49 LETROZOLE Novartis January 2001
20
Fusilev 18 LEVOLEUCOVORIN CALCIUM Spectrum Pharmaceuticals March of 2008
21
Gazyva 18 49 OBINUTUZUMAB Genentech October of 2013
22
Gleevec 18 49 IMATINIB MESYLATE Novartis May 2001
23
Gliadel Wafer 18 49 CARMUSTINE Rhone-Poulenc Rorer, Guilford Pharmaceuticals February 1997
24
Herceptin 18 49 TRASTUZUMAB Genentech October 1998
25
Hycamtin 18 49 TOPOTECAN HYDROCHLORIDE GlaxoSmithKline/ SmithKline Beecham October 2007/May 1996
26
Ibrance 18 49 PALBOCICLIB Pfizer February 2015
27
Iclusig 18 49 PONATINIB HYDROCHLORIDE Ariad Pharmaceuticals December 2012
28
Imbruvica 18 49 IBRUTINIB Pharmacyclics November of 2013/February 2014
29
Intron A 18 49 INTERFERON ALFA-2B Schering-Plough December 1997/ December 1995/ March 1997
30
Iressa 18 49 GEFITINIB AstraZeneca May 2003
31
Istodax 18 49 ROMIDEPSIN Gloucester Pharmaceuticals November 2009
32
Jevtana 18 49 CABAZITAXEL sanofi aventis June 2010
33
Kadcyla 18 49 ADO-TRASTUZUMAB EMTANSINE Genentech February 2013
34
Kyprolis 18 49 CARFILZOMIB Onyx Pharmaceuticals July 2012
35
Lenvima 18 49 LENVATINIB MESYLATE Eisai February 2015
36
Mozobil 18 49 PLERIXAFOR Genzyme December 2008
37
Neulasta 18 PEGFILGRASTIM Amgen January 2002
38
Neutroval 18 tbo-filgrastim Teva Pharmaceutical August 2012
39
Nexavar 18 49 SORAFENIB TOSYLATE Bayer/Onyx December 2005
40
Nolvadex 18 49 TAMOXIFEN CITRATE AstraZeneca October 1998
41
Odomzo 18 49 SONIDEGIB PHOSPHATE Novartis Jul-15
42
Onsolis 18 FENTANYL CITRATE BioDelivery Sciences July 2009
43
Opdivo 18 49 NIVOLUMAB Bristol-Myers Squibb March 2015/ December 2014
44
Perjeta 18 49 PERTUZUMAB Genentech June 2012
45
Picato gel 18 INGENOL MEBUTATE LEO Pharma January 2012
46
Pomalyst 18 49 POMALIDOMIDE Celgene February 2013
47
Premarin 18 ESTROGENS CONJUGATED Wyeth July of 2003
48
Provenge 18 49 sipuleucel-T Dendreon May 2010
49
Revlimid 18 49 LENALIDOMIDE Celgene June 2013
50
Sancuso 18 GRANISETRON ProStrakan September 2008

Search Clinical Trials , NIH Clinical Center for Multiple Familial Trichoepithelioma

Genetic Tests for Multiple Familial Trichoepithelioma

Genetic tests related to Multiple Familial Trichoepithelioma:

# Genetic test Affiliating Genes
1 Familial Multiple Trichoepitheliomata 29 CYLD

Anatomical Context for Multiple Familial Trichoepithelioma

MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

41
Skin, Myeloid

Publications for Multiple Familial Trichoepithelioma

Articles related to Multiple Familial Trichoepithelioma:

(show all 41)
# Title Authors Year
1
Multiple Familial Trichoepithelioma. ( 29790471 )
2018
2
Brooke-Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma. ( 30252697 )
2018
3
Multiple familial trichoepithelioma with a novel mutation of the CYLD gene. ( 28488373 )
2017
4
Sporadic Trichoblastomas and Those Occurring in the Setting of Multiple Familial Trichoepithelioma/Brooke-Spiegler Syndrome Show No BAP1 Loss. ( 28098597 )
2017
5
Multiple Familial Trichoepithelioma Successfully Treated With CO2 Laser and Imiquimod. ( 28031139 )
2016
6
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. ( 26861065 )
2016
7
Twelve Years' Observation of Multiple Familial Trichoepithelioma with Squamous Carcinoma. ( 27293274 )
2016
8
Multiple familial trichoepithelioma: confirmation via dermoscopy. ( 27648384 )
2016
9
Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma. ( 27339671 )
2016
10
A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 25751345 )
2015
11
Multiple Familial Trichoepithelioma with an Adjacent Basal Cell Carcinoma, Transformation or Collision - A Case Report and Review of Literature. ( 26120156 )
2015
12
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. ( 25347032 )
2014
13
A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 25117167 )
2014
14
A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma. ( 25234269 )
2014
15
Three mutations of CYLD gene in Chinese families with multiple familial trichoepithelioma. ( 24247569 )
2014
16
Multiple familial trichoepithelioma with malignant transformation. ( 24082215 )
2013
17
[Multiple familial trichoepithelioma: a new CYLD gene mutation]. ( 23567228 )
2013
18
Multiple familial trichoepithelioma: report of a Chinese family not associated with a mutation in the CYLD gene and CYLD protein expression in the trichoepithelioma tumor tissue. ( 23879700 )
2013
19
Familial Facial disfigurement in Multiple Familial Trichoepithelioma. ( 24551711 )
2013
20
Trichoblastic carcinoma associated with multiple familial trichoepithelioma. ( 22849566 )
2012
21
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma. ( 22049921 )
2012
22
Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. ( 21605102 )
2011
23
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. ( 21712687 )
2011
24
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 19911186 )
2010
25
Multiple familial trichoepithelioma: a case report and review of literature. ( 20499764 )
2010
26
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. ( 19076795 )
2009
27
Multiple familial trichoepithelioma and familial cylindroma: one cause! ( 18355210 )
2008
28
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. ( 18363762 )
2008
29
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. ( 18242958 )
2008
30
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. ( 18176750 )
2008
31
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. ( 17662085 )
2007
32
A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. ( 17875891 )
2007
33
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. ( 16922728 )
2006
34
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. ( 15854031 )
2005
35
Multiple familial trichoepithelioma: a rare cutaneous tumour. ( 15353143 )
2004
36
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. ( 15024746 )
2004
37
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. ( 15289313 )
2004
38
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. ( 15086550 )
2004
39
Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. ( 9158430 )
1997
40
The gene for multiple familial trichoepithelioma maps to chromosome 9p21. ( 8752837 )
1996
41
Banded structures in multiple familial trichoepithelioma. ( 1969205 )
1990

Variations for Multiple Familial Trichoepithelioma

ClinVar genetic disease variations for Multiple Familial Trichoepithelioma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 2-BP DEL, 2241AG deletion Pathogenic
2 CYLD CYLD, IVS12AS, T-G, +2 single nucleotide variant Pathogenic
3 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh37 Chromosome 16, 50825600: 50825600
4 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh38 Chromosome 16, 50791689: 50791689
5 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354
6 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh38 Chromosome 16, 50796443: 50796443
7 CYLD NM_015247.2(CYLD): c.1950-5_1950-2delCTTA deletion Uncertain significance rs886040881 GRCh38 Chromosome 16, 50786850: 50786853
8 CYLD NM_015247.2(CYLD): c.1950-5_1950-2delCTTA deletion Uncertain significance rs886040881 GRCh37 Chromosome 16, 50820761: 50820764

Cosmic variations for Multiple Familial Trichoepithelioma:

9 (show top 50) (show all 1240)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM214343 CYLD skin,face,adnexal tumour,trichoepithelioma c.1327C>T p.Q443* 16:50779853-50779853 29
2 COSM44097 TP53 skin,face,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 6
3 COSM44295 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 6
4 COSM10939 TP53 skin,face,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 6
5 COSM10662 TP53 skin,face,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 6
6 COSM11449 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 6
7 COSM44068 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 6
8 COSM43582 TP53 skin,face,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 6
9 COSM44552 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 6
10 COSM10726 TP53 skin,face,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 6
11 COSM10992 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 6
12 COSM11073 TP53 skin,face,carcinoma,basal cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 6
13 COSM45733 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 17:7675180-7675180 6
14 COSM43700 TP53 skin,face,carcinoma,basal cell carcinoma c.712T>A p.C238S 17:7674251-7674251 6
15 COSM44227 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 6
16 COSM44435 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 6
17 COSM43920 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 6
18 COSM44436 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 6
19 COSM43596 TP53 skin,face,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 6
20 COSM11084 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 6
21 COSM43742 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 6
22 COSM10887 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 6
23 COSM44241 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 6
24 COSM13233 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197F 10:102592718-102592718 6
25 COSM13234 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 6
26 COSM3942016 SMO skin,face,carcinoma,basal cell carcinoma c.1376C>T p.A459V 7:129209307-129209307 6
27 COSM13144 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 6
28 COSM13145 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 6
29 COSM216037 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 6
30 COSM13240 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 6
31 COSM17598 PTCH1 skin,face,carcinoma,basal cell carcinoma c.550C>T p.Q184* 9:95485719-95485719 6
32 COSM29147 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1356T>G p.Y452* 9:95477694-95477694 6
33 COSM17511 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 6
34 COSM17522 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 6
35 COSM17495 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1229G>A p.S410N 9:95478173-95478173 6
36 COSM14439 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 6
37 COSM17601 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2011C>T p.H671Y 9:95468990-95468990 6
38 COSM17584 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2105C>T p.P702L 9:95468896-95468896 6
39 COSM17532 PTCH1 skin,face,carcinoma,basal cell carcinoma c.768G>A p.W256* 9:95480567-95480567 6
40 COSM14446 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 6
41 COSM26377 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3449+1G>A p.? 9:95453477-95453477 6
42 COSM17473 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 6
43 COSM17599 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2120C>T p.S707F 9:95468881-95468881 6
44 COSM17533 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2251-1G>A p.? 9:95467426-95467426 6
45 COSM29033 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2038G>T p.E680* 9:95468963-95468963 6
46 COSM29043 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1634G>A p.G545E 9:95476128-95476128 6
47 COSM29071 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3549+5G>A p.? 9:95449836-95449836 6
48 COSM29046 PTCH1 skin,face,carcinoma,basal cell carcinoma c.747-1G>A p.? 9:95480589-95480589 6
49 COSM26363 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2446C>T p.Q816* 9:95467230-95467230 6
50 COSM17582 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1082A>C p.Q361P 9:95479133-95479133 6

Expression for Multiple Familial Trichoepithelioma

Search GEO for disease gene expression data for Multiple Familial Trichoepithelioma.

Pathways for Multiple Familial Trichoepithelioma

GO Terms for Multiple Familial Trichoepithelioma

Sources for Multiple Familial Trichoepithelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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