MCID: HYP078
MIFTS: 43

Hypertrophy of Breast

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypertrophy of Breast

MalaCards integrated aliases for Hypertrophy of Breast:

Name: Hypertrophy of Breast 12 15 32
Breasts Enlarged 12
Large Breast 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10688
ICD9CM 34 611.1
NCIt 49 C3125
SNOMED-CT 67 43336006
ICD10 32 N62
UMLS 71 C0020565

Summaries for Hypertrophy of Breast

Disease Ontology : 12 A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue.

MalaCards based summary : Hypertrophy of Breast, also known as breasts enlarged, is related to gynecomastia and breast-ovarian cancer, familial 2. An important gene associated with Hypertrophy of Breast is ERBB2 (Erb-B2 Receptor Tyrosine Kinase 2), and among its related pathways/superpathways are Pathways in cancer and Chks in Checkpoint Regulation. The drugs Doxorubicin and Liposomal doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and lymph node, and related phenotypes are endocrine/exocrine gland and integument

Wikipedia : 74 Breast hypertrophy is a rare medical condition of the breast connective tissues in which the breasts... more...

Related Diseases for Hypertrophy of Breast

Diseases in the Hypertrophy of Breast family:

Hypertrophy of the Breast, Juvenile

Diseases related to Hypertrophy of Breast via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 248)
# Related Disease Score Top Affiliating Genes
1 gynecomastia 31.1 PGR ESR1 ERBB2 CYP19A1
2 breast-ovarian cancer, familial 2 30.0 BRCA2 BRCA1
3 mammographic density 29.9 PGR ESR1 CYP19A1
4 breast fibroadenoma 29.7 TP53 PGR ESR1 ERBB2 CYP19A1 BRCA1
5 breast-ovarian cancer, familial 1 29.5 BRCA2 BRCA1
6 in situ carcinoma 29.4 TP53 PGR ESR1 ERBB2 CYP19A1 BRCA2
7 lobular neoplasia 29.4 TP53 PGR ESR1 ERBB2 BRCA2 BRCA1
8 bilateral breast cancer 29.4 PIK3CA PGR ESR1 ERBB2 BRCA2 BRCA1
9 breast disease 29.2 TP53 PGR ESR1 ERBB2 CYP19A1 BRCA2
10 ductal carcinoma in situ 29.0 TP53 PIK3CA PGR ESR1 ERBB2 CYP19A1
11 androgen insensitivity syndrome 11.4
12 aromatase excess syndrome 11.1
13 17-beta hydroxysteroid dehydrogenase iii deficiency 11.1
14 46,xx sex reversal 1 11.1
15 hypogonadotropic hypogonadism 11.1
16 46 xy gonadal dysgenesis 11.1
17 48,xxxy syndrome 11.1
18 48,xxyy syndrome 11.1
19 49, xxxxy syndrome 11.1
20 bartholin's gland adenoid cystic carcinoma 10.6 PGR ESR1
21 chronic tympanitis 10.6 PGR ESR1
22 granulomatous endometritis 10.6 PGR ESR1
23 hereditary site-specific ovarian cancer syndrome 10.6 BRCA2 BRCA1
24 scirrhous adenocarcinoma 10.6 PGR ERBB2
25 lung leiomyoma 10.5 PGR ESR1
26 lipid-rich breast carcinoma 10.5 PGR ERBB2
27 vulvar syringoma 10.5 PGR ESR1
28 trigonitis 10.5 PGR ESR1
29 rare malignant breast tumor 10.5 BRCA2 BRCA1
30 vagina leiomyosarcoma 10.5 PGR ESR1
31 adult type testicular granulosa cell tumor 10.5 PGR ESR1
32 breast leiomyoma 10.5 PGR ESR1
33 gastric papillary adenocarcinoma 10.5 TP53 ERBB2
34 tetraploidy 10.5 BRCA2 BRCA1
35 glassy cell carcinoma of the cervix 10.5 PGR ESR1 ERBB2
36 cancerophobia 10.5 BRCA2 BRCA1
37 breast scirrhous carcinoma 10.5 PGR ESR1 ERBB2
38 oncocytic breast carcinoma 10.5 PGR ESR1 ERBB2
39 breast papillary carcinoma 10.5 PGR ESR1 ERBB2
40 familiar ovarian carcinoma 10.5 PIK3CA BRCA1
41 papillary carcinoma 10.5 PGR ESR1 ERBB2
42 intravenous leiomyomatosis 10.5 PGR ESR1
43 breast metaplastic carcinoma 10.5 PGR ESR1 ERBB2
44 breast adenoid cystic carcinoma 10.5 PGR ERBB2
45 liver leiomyoma 10.5 PGR ESR1
46 hypertrophy of the breast, juvenile 10.5
47 nosophobia 10.5 BRCA2 BRCA1
48 lipid-rich carcinoma 10.5 PGR ESR1 ERBB2
49 progesterone-receptor negative breast cancer 10.5 PGR ESR1 ERBB2
50 breast mucinous carcinoma 10.5 PGR ERBB2

Graphical network of the top 20 diseases related to Hypertrophy of Breast:



Diseases related to Hypertrophy of Breast

Symptoms & Phenotypes for Hypertrophy of Breast

MGI Mouse Phenotypes related to Hypertrophy of Breast:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.02 BRCA1 BRCA2 CYP19A1 ERBB2 ESR1 GATA3
2 integument MP:0010771 10.02 BRCA1 BRCA2 CYP19A1 ERBB2 ESR1 GATA3
3 digestive/alimentary MP:0005381 10.01 BRCA1 BRCA2 CUEDC2 CYP19A1 ERBB2 ESR1
4 muscle MP:0005369 9.91 BRCA1 CYP19A1 ERBB2 ESR1 GATA3 MAP3K1
5 neoplasm MP:0002006 9.81 BRCA1 BRCA2 CUEDC2 ERBB2 ESR1 MAP3K1
6 reproductive system MP:0005389 9.65 BRCA1 BRCA2 CYP19A1 ERBB2 ESR1 GATA3
7 skeleton MP:0005390 9.32 BRCA1 BRCA2 CYP19A1 ERBB2 ESR1 GATA3

Drugs & Therapeutics for Hypertrophy of Breast

Drugs for Hypertrophy of Breast (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
2
Liposomal doxorubicin Phase 3 31703
3
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
4
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
5
Epirubicin Approved Phase 2 56420-45-2 41867
6
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
7
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
8
Pembrolizumab Approved Phase 2 1374853-91-4
9
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
10
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
11
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
12 Trace Elements Phase 2
13 Micronutrients Phase 2
14 Vasoconstrictor Agents Phase 2
15 Dermatologic Agents Phase 2
16 Nutrients Phase 2
17 Calcium, Dietary Phase 2
18 Vitamins Phase 2
19 Calcipotriene Phase 2
20 Anti-Bacterial Agents Phase 2
21 Topoisomerase Inhibitors Phase 2
22 Antibiotics, Antitubercular Phase 2
23 Antineoplastic Agents, Immunological Phase 2
24 Immunologic Factors Phase 2
25 Alkylating Agents Phase 2
26 Antirheumatic Agents Phase 2
27 Albumin-Bound Paclitaxel Phase 2
28 Immunosuppressive Agents Phase 2
29 Antimitotic Agents Phase 2
30
Adenosine Approved, Investigational Phase 1 58-61-7 60961
31
Palbociclib Approved, Investigational Phase 1 571190-30-2 11431660 5005498 5330286
32
Fulvestrant Approved, Investigational Phase 1 129453-61-8 104741 17756771
33
Goserelin Approved Phase 1 65807-02-5, 1233494-97-7 47725 5311128
34 Gedatolisib Investigational Phase 1 1197160-78-3
35 Hormones Phase 1
36 Estrogens Phase 1
37 Protein Kinase Inhibitors Phase 1
38 acivicin Phase 1
39 Hormone Antagonists Phase 1
40 Estrogen Antagonists Phase 1
41 Antineoplastic Agents, Hormonal Phase 1
42 Estrogen Receptor Antagonists Phase 1
43 Estrogen Receptor Modulators Phase 1
44 Immunoglobulins
45 Antibodies

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Randomized Pivotal Trial to Assess the Safety and Efficacy of Preoperative Focused Microwave Thermotherapy Plus Preoperative Chemotherapy Versus Preoperative Chemotherapy Alone for Cytoreduction of Large Breast Cancer in Female Patients With Intact Breast Unknown status NCT01204801 Phase 3 Chemotherapy (control)
2 A Phase III Study of Adjuvant Radiation Therapy in Early Breast Cancer Comparing the Use of Breast Intensity Modulated Radiation Therapy (IMRT) to Conventional Wedge Technique Completed NCT00187343 Phase 3
3 Phase 2 Study of the Role of Calcipotriol as Radioprotector of Skin in Women Receiving Radiotherapy Treatment to the Breast. Unknown status NCT00445250 Phase 2 Calcipotriol
4 Phase II Study of Dose Dense Carboplatin and Taxotere With Herceptin As Primary Systemic Therapy in Breast Cancer Completed NCT00232479 Phase 2 trastuzumab, docetaxel and carboplatin in dose dense regimen
5 Axillary Lymph Nodes and PET (Positron Emission Tomography) Probe-Guided Surgical Resection in Locally Advanced Breast Cancer Patients: Molecular Marker Profile and Response to Neoadjuvant Chemotherapy Completed NCT00233974 Phase 2
6 A Phase II One-arm Open-label Neoadjuvant Study of Pembrolizumab in Combination With Nab-paclitaxel Followed by Pembrolizumab in Combination With Epirubicin and Cyclophosphamide in Patients With Triple Negative Breast Cancer Recruiting NCT03289819 Phase 2 Pembrolizumab;nab-paclitaxel;Epirubicin;Cyclophosphamide
7 A Multicenter, Open Label, Phase II Trial Evaluating Docetaxel + Anthracycline x 4 Cycles Followed by Docetaxel Single Agent x 4 Cycles as First-Line Therapy in Patients With Her2 Negative Locally Advanced or Metastatic Breast Cancer Who Have Relapsed ≥ 12 Months From Completion of Neoadjuvant/Adjuvant Taxotere®- Based Chemotherapy Terminated NCT00461344 Phase 2 Docetaxel;Doxorubicin
8 Phase I Dose-Escalation Study of Combination of Gedatolisib (a Dual Inhibitor of PI3-K and mTOR) With Palbociclib and Faslodex in the Neoadjuvant Setting in Previously Untreated Patients With ER+/HER2- Breast Cancer Recruiting NCT02626507 Phase 1 Gedatolisib;Faslodex;Palbociclib;Zoladex
9 Randomized Controlled Trial Comparing Prone and Supine Intensity-modulated Radiotherapy (IMRT) After Breast-conserving Surgery in Patients With Large Breast Volume at High Risk for Skin Toxicity and Fibrosis Unknown status NCT00887523
10 Breast Reconstruction Outcomes With and Without StratticE (BROWSE) Unknown status NCT02608593
11 Imagerie 3D d'élasticité du Sein Par échographie Ultrarapide au Cours d'un Traitement Par chimiothérapie néoadjuvante. Completed NCT01531036
12 Prediction of Therapeutic Response Using AQUA™ Quantitative Protein Expression Analysis of ER, PgR, and HER2 of Breast Cancer Tissue Microarrays From SWOG Protocol 9313 Completed NCT00896727
13 An RCT to Determine if APBI, Utilizing 3D CRT, is as Effective as Whole Breast Irradiation Following Breast Conserving Surgery in Women With Ductal Carcinoma in Situ or Invasive Breast Cancer With Negative Axillary Lymph Nodes Completed NCT00282035
14 A Multicentre Randomized Controlled Clinical Trial for the Reduction of Acute Skin Reaction in Adjuvant Breast Radiation in Large Breasted Women Using a Prone Technique - The Prone Breast Trial Completed NCT01815476
15 Evaluation of Sentinel Lymph Node Detection After Neoadjuvant Chemotherapy for Large Operable Breast Cancer Active, not recruiting NCT01221688
16 Informative Tools to Optimize Neoadjuvant Therapy in ER Positive, HER2 Negative Breast Cancers Not yet recruiting NCT03790813

Search NIH Clinical Center for Hypertrophy of Breast

Genetic Tests for Hypertrophy of Breast

Anatomical Context for Hypertrophy of Breast

MalaCards organs/tissues related to Hypertrophy of Breast:

40
Breast, Skin, Lymph Node, Heart, Lung, Ovary, Bone

Publications for Hypertrophy of Breast

Articles related to Hypertrophy of Breast:

(show top 50) (show all 410)
# Title Authors PMID Year
1
Scar Assessment After Breast Reconstruction: Risk Factors for Hypertrophy and Hyperpigmentation in Asian Patients. 61
32032113 2020
2
Spectrum and clinical relevance of PALB2 germline mutations in 7657 Chinese BRCA1/2-negative breast cancer patients. 61
31768816 2020
3
Changes in DNA Damage Repair Gene Expression and Cell Cycle Gene Expression Do Not Explain Radioresistance in Tamoxifen-Resistant Breast Cancer. 61
31046897 2020
4
A fluence modulation and scatter shielding apparatus for dedicated breast CT: Theory of operation. 61
31955431 2020
5
Integrin α11β1 is expressed in breast cancer stroma and associates with aggressive tumor phenotypes. 61
31605508 2020
6
Primary Breast Augmentation with Autologous Fat Grafting Alone: Evaluation of Patient Satisfaction Using the BREAST-Q. 61
31912145 2020
7
Impact of deviation from guideline recommended treatment on breast cancer survival in Asia. 61
31992769 2020
8
The Adventure of Axillary Treatment in Early Stage Breast Cancer. 61
31912008 2020
9
Breast reconstruction after nipple-sparing mastectomy in the large and/or ptotic breast: A systematic review of indications, techniques, and outcomes. 61
31987776 2019
10
Extensive Florid Lobular carcinoma in situ presenting as a large breast mass requiring a mastectomy. 61
31793132 2019
11
EBADIMEX: an empirical Bayes approach to detect joint differential expression and methylation and to classify samples. 61
31734658 2019
12
Does Staged Breast Reduction before Nipple-Sparing Mastectomy Decrease Complications? A Matched Cohort Study between Staged and Nonstaged Techniques. 61
31373992 2019
13
Visualized oncoplastic surgery of the breast I: inferior and medial quadrantectomy. 61
31709168 2019
14
Correlation of hot spot to breast separation in patients treated with postlumpectomy tangent 3D-CRT using field-in-field technique and mixed photon energies. 61
31521451 2019
15
Surgery of nonpalpable breast cancer: First step to a virtual per-operative localization? First step to virtual breast cancer localization. 61
31179597 2019
16
β1 Integrin is essential for fascin-mediated breast cancer stem cell function and disease progression. 61
30719702 2019
17
Practical uses of contrast-enhanced spectral mammography in daily work: A pictorial review. 61
31332941 2019
18
A closer look at familial Mediterranean fever cases in a large breast cancer dataset. 61
31168639 2019
19
Features Associated With Long-Term Survival in Patients With Metastatic Breast Cancer. 61
30827763 2019
20
Clinical Characteristics and Outcomes of Single Versus Double Hormone Receptor-Positive Breast Cancer in 2 Large Databases. 61
31551181 2019
21
Neoadjuvant Chemotherapy Use for Nonmetastatic Breast Cancer at Five Public South African Hospitals and Impact on Time to Initial Cancer Therapy. 61
30518615 2019
22
Do hypofraction and large breast size reciprocally fit in breast cancer radiotherapy? 61
31576353 2019
23
Vinorelbine plus Capecitabine (Vinocap): a retrospective analysis in heavily pretreated HER2 negative metastatic breast cancer patients. 61
30900138 2019
24
Increased Cholesterol Biosynthesis Is a Key Characteristic of Breast Cancer Stem Cells Influencing Patient Outcome. 61
31242424 2019
25
Biophysical skin measurements to evaluate the effectiveness of photobiomodulation therapy in the prevention of acute radiation dermatitis in breast cancer patients. 61
30270415 2019
26
The effect of breast volume on toxicity using hypofractionated regimens for early stage breast cancer for patients. 61
31011671 2019
27
Updated breast CT dose coefficients (DgNCT ) using patient-derived breast shapes and heterogeneous fibroglandular distributions. 61
30661250 2019
28
Effect of Breast Size on Upper Torso Musculoskeletal Structure and Function: A Cross-Sectional Study. 61
30817639 2019
29
Powerful gene set analysis in GWAS with the Generalized Berk-Jones statistic. 61
30875371 2019
30
PTPN2 deficiency along with activation of nuclear Akt predict endocrine resistance in breast cancer. 61
30515568 2019
31
Identification of the copy number variant biomarkers for breast cancer subtypes. 61
30203254 2019
32
Unilateral Reconstruction of the Large Breast: Combining Prosthetic and Autologous Methods for Improved Symmetry. 61
30881848 2019
33
High Prevalence of a Hotspot of Noncoding Somatic Mutations in Intron 6 of GPR126 in Bladder Cancer. 61
30401719 2019
34
Intramuscular lipoma originating in pectoralis major: A rare presentation of a large breast mass. 61
30488585 2019
35
Localized mammographic density is associated with interval cancer and large breast cancer: a nested case-control study. 61
30670066 2019
36
Middle Hepatic Vein Roadmap for a Safe Laparoscopic Right Hepatectomy. 61
30465224 2019
37
Usefulness of EZFluence software for radiotherapy planning of breast cancer treatment. 61
30611624 2019
38
Is the high proportion of young age at breast cancer onset a unique feature of Asian breast cancer? 61
30238275 2019
39
Phase-contrast breast CT: the effect of propagation distance. 61
30524112 2018
40
[A Case Report of Recurrent Bleeding and Massive Malodorous Effusion Due to Skin Invasion of Advanced Breast Cancer Successfully Treated with Mohs' Paste]. 61
30692423 2018
41
A comparative study of survival models for breast cancer prognostication revisited: the benefits of multi-gene models. 61
30390622 2018
42
Three-Year Outcomes With Hypofractionated Versus Conventionally Fractionated Whole-Breast Irradiation: Results of a Randomized, Noninferiority Clinical Trial. 61
30379626 2018
43
Validation of inflammatory genetic variants associated with long-term cancer related fatigue in a large breast cancer cohort. 61
29763737 2018
44
A cost-utility analysis comparing large volume displacement oncoplastic surgery to mastectomy with single stage implant reconstruction in the treatment of breast cancer. 61
30099327 2018
45
Stability of oestrogen and progesterone receptor antigenicity in formalin-fixed paraffin-embedded breast cancer tissue over time. 61
30160021 2018
46
Anatomic and terminological description and processing of breast pathologic specimens from oncoplastic large volume displacement surgeries. 61
29449682 2018
47
Increasing preoperative body size in breast cancer patients between 2002 and 2016: implications for prognosis. 61
29804217 2018
48
Evaluation of sparing organs at risk (OARs) in left-breast irradiation in the supine and prone positions and with deep inspiration breath-hold. 61
29927027 2018
49
[Risk of axillary recurrence after sentinel lymph node biopsy before neoadjuvant chemotherapy in breast cancer]. 61
29776842 2018
50
Surgical Outcomes of Primary Versus Post-Neoadjuvant Chemotherapy Breast Conservation Surgery: A Comparative Study from a Developing Country. 61
29349483 2018

Variations for Hypertrophy of Breast

Expression for Hypertrophy of Breast

Search GEO for disease gene expression data for Hypertrophy of Breast.

Pathways for Hypertrophy of Breast

Pathways related to Hypertrophy of Breast according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1 12.69 TP53 PIK3CA ESR1 ERBB2 BRCA2
2
Show member pathways
12.52 TP53 MAP3K1 ESR1 BRCA2 BRCA1
3
Show member pathways
12.51 TP53 PIK3CA MAP3K1 ESR1 ERBB2
4
Show member pathways
12.39 TP53 PIK3CA ESR1 ERBB2 BRCA2 BRCA1
5
Show member pathways
12.35 TP53 PIK3CA MAP3K1 ERBB2
6
Show member pathways
12.22 PIK3CA MAP3K1 ESR1 BRCA1
7 12.11 TP53 PIK3CA ESR1 ERBB2
8
Show member pathways
11.83 TP53 PIK3CA PGR ESR1 ERBB2 BRCA2
9 11.77 TP53 PIK3CA MAP3K1 ERBB2
10 11.72 EME2 BRCA2 BRCA1
11
Show member pathways
11.7 PIK3CA PGR ESR1 ERBB2
12
Show member pathways
11.65 TP53 BRCA2 BRCA1
13 11.54 TP53 PIK3CA ERBB2
14 11.54 TP53 ESR1 CYP19A1 BRCA2 BRCA1
15 11.42 TP53 PIK3CA ERBB2 BRCA1
16 11.28 TP53 PIK3CA ERBB2 BRCA1
17 11.11 TP53 MAP3K1 BRCA1
18 10.06 ESR1 CYP19A1

GO Terms for Hypertrophy of Breast

Cellular components related to Hypertrophy of Breast according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.62 BRCA2 BRCA1

Biological processes related to Hypertrophy of Breast according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.84 TP53 PGR GATA3 ESR1
2 protein deubiquitination GO:0016579 9.83 TP53 GATA3 ESR1 BRCA1
3 positive regulation of protein kinase B signaling GO:0051897 9.73 PIK3CA GATA3 ESR1 ERBB2
4 response to estrogen GO:0043627 9.63 GATA3 ESR1 BRCA1
5 positive regulation of RNA polymerase II transcriptional preinitiation complex assembly GO:0045899 9.51 TP53 ESR1
6 phosphatidylinositol 3-kinase signaling GO:0014065 9.5 PIK3CA GATA3 ERBB2
7 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.49 TP53 ESR1
8 positive regulation of histone H3-K9 acetylation GO:2000617 9.48 GATA3 BRCA1
9 response to gamma radiation GO:0010332 9.43 TP53 GATA3 BRCA2
10 chordate embryonic development GO:0043009 9.4 BRCA2 BRCA1
11 negative regulation of mammary gland epithelial cell proliferation GO:0033600 9.37 GATA3 BRCA2
12 uterus development GO:0060065 9.33 GATA3 ESR1 CYP19A1
13 double-strand break repair GO:0006302 9.26 TP53 EME2 BRCA2 BRCA1
14 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.8 TP53 BRCA2 BRCA1

Molecular functions related to Hypertrophy of Breast according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.43 TP53 PGR MAP3K1 GATA3 ESR1 BRCA1
2 identical protein binding GO:0042802 9.17 TP53 PGR GATA3 ESR1 ERBB2 BRCA2

Sources for Hypertrophy of Breast

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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