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MCID: MLG005
MIFTS: 39

Malignant Spindle Cell Melanoma

Categories: Cancer diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Malignant Spindle Cell Melanoma

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MalaCards integrated aliases for Malignant Spindle Cell Melanoma:

Name: Malignant Spindle Cell Melanoma 12 15
Spindle Cell Melanoma 12 17 70
Desmoplastic Melanoma 12 70
Spindle Cell Malignant Melanoma 12
Spitzoid Malignant Melanoma 12

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:3162
NCIt 50 C4237
SNOMED-CT 67 68827007
UMLS 70 C0334444 C1333280
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Summaries for Malignant Spindle Cell Melanoma

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Disease Ontology : 12 A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles.

MalaCards based summary : Malignant Spindle Cell Melanoma, also known as spindle cell melanoma, is related to malignant choroid melanoma and dowling-degos disease 1. An important gene associated with Malignant Spindle Cell Melanoma is SERPINA3 (Serpin Family A Member 3), and among its related pathways/superpathways are Development Angiotensin activation of ERK and MAPK signaling pathway. The drugs Pembrolizumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and breast, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Malignant Spindle Cell Melanoma

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Diseases related to Malignant Spindle Cell Melanoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 malignant choroid melanoma 30.6 SOX10 MLANA MITF
2 dowling-degos disease 1 30.5 TYR MITF KIT
3 spindle cell sarcoma 30.5 SERPINA3 KIT CD34
4 lentigo maligna melanoma 30.4 MLANA MITF
5 spitz nevus 30.2 HRAS CDKN2A
6 clear cell sarcoma 30.2 TYR SOX10 MLANA MITF KIT
7 amelanotic melanoma 30.2 TYR SERPINA3 MLANA KIT
8 myxofibrosarcoma 30.2 SERPINA3 KIT CD34
9 dermatofibrosarcoma protuberans 30.2 SERPINA3 KIT CDKN2A CD34
10 microphthalmia 30.1 TYR SOX10 PMEL MLANA MITF KIT
11 epithelioid cell melanoma 30.0 TYR NGFR MLANA MITF GNA11
12 neuroma 29.9 SERPINA3 NF1 CD68 CD34
13 cutaneous leiomyosarcoma 29.8 CD68 CD34
14 fibroma 29.8 SERPINA3 NF1 CD68 CD34
15 leiomyosarcoma 29.8 SERPINA3 NF1 MLANA KIT CDKN2A
16 sarcomatoid squamous cell skin carcinoma 29.6 SERPINA3 MLANA CD68 CD34
17 cutaneous fibrous histiocytoma 29.6 SERPINA3 MLANA CD68 CD34
18 neurilemmoma 29.6 TYR SOX10 SERPINA3 NGFR NF1 MITF
19 malignant conjunctival melanoma 29.5 NRAS MLANA HRAS GNAQ GNA11
20 mesenchymal cell neoplasm 29.5 SERPINA3 MLANA KIT CD68 CD34
21 fibrous histiocytoma 29.4 SERPINA3 MITF KIT CD68 CD34
22 spitzoid melanoma 29.3 NRAS MLANA HRAS GNAQ GNA11 CDKN2A
23 neurofibroma 29.0 TYR SOX10 RASA2 NGFR NF1 MLANA
24 malignant peripheral nerve sheath tumor 28.6 SOX10 S100A6 NGFR NF1 MLANA MITF
25 basal cell carcinoma 28.6 TYR KIT CDKN2A CD68 CD34 CD274
26 neurofibromatosis, type i 28.6 RASA2 NRAS NGFR NF1 KIT HRAS
27 mucosal melanoma 28.5 NRAS NF1 MITF KIT GNAQ GNA11
28 nodular malignant melanoma 28.4 TYR NRAS MLANA MITF KIT HRAS
29 peripheral nervous system disease 28.1 SOX10 SERPINA3 NGFR NF1 KIT HRAS
30 skin melanoma 27.8 TYR SOX10 SERPINA3 PMEL NRAS NGFR
31 melanoma 27.1 TYR SOX10 S100A6 PMEL NRAS NGFR
32 choroid spindle cell melanoma 11.5
33 ciliary body spindle cell melanoma 11.5
34 iris spindle cell melanoma 11.4
35 spindle cell intraocular melanoma 11.2
36 ovarian melanoma 10.4 SOX10 MLANA
37 ciliary body cancer 10.4 TYR MLANA
38 waardenburg syndrome, type 2c 10.4 SOX10 MITF
39 angiolipoma 10.4 MLANA CD34
40 waardenburg syndrome, type 2b 10.4 SOX10 MITF
41 pigmented basal cell carcinoma 10.4 MLANA MITF
42 cellular neurofibroma 10.4 SOX10 NF1
43 penis sarcoma 10.4 MLANA CD34
44 lentigines 10.4
45 peripheral nerve schwannoma 10.4 SERPINA3 NF1
46 vulvar leiomyosarcoma 10.4 MLANA CD34
47 sensory organ benign neoplasm 10.4 NRAS MLANA
48 mechanical ectropion 10.4 NF1 CD34
49 melanoma, cutaneous malignant 8 10.4 TYR MITF
50 glomangiosarcoma 10.4 MLANA CD34

Graphical network of the top 20 diseases related to Malignant Spindle Cell Melanoma:



Diseases related to Malignant Spindle Cell Melanoma
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Symptoms & Phenotypes for Malignant Spindle Cell Melanoma

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GenomeRNAi Phenotypes related to Malignant Spindle Cell Melanoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.55 HRAS
2 Decreased viability GR00055-A-2 9.55 HRAS
3 Decreased viability GR00221-A-1 9.55 CDKN2A HRAS KIT NF1 NRAS
4 Decreased viability GR00221-A-2 9.55 HRAS NF1
5 Decreased viability GR00221-A-3 9.55 CDKN2A HRAS NRAS
6 Decreased viability GR00221-A-4 9.55 CDKN2A NF1
7 Decreased viability GR00249-S 9.55 NF1
8 Decreased viability GR00301-A 9.55 KIT
9 Decreased viability GR00386-A-1 9.55 NF1

MGI Mouse Phenotypes related to Malignant Spindle Cell Melanoma:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 CD274 CDKN2A GNA11 GNAQ HRAS KIT
2 homeostasis/metabolism MP:0005376 10.41 CD274 CD34 CDKN2A GNA11 GNAQ HRAS
3 integument MP:0010771 10.38 CD274 CD34 CDKN2A GNA11 GNAQ HRAS
4 hematopoietic system MP:0005397 10.3 CD274 CD34 CD68 CDKN2A GNA11 GNAQ
5 immune system MP:0005387 10.27 CD274 CD34 CD68 CDKN2A GNA11 GNAQ
6 endocrine/exocrine gland MP:0005379 10.25 CDKN2A GNA11 GNAQ HRAS KIT MITF
7 mortality/aging MP:0010768 10.25 CD274 CDKN2A GNA11 GNAQ HRAS KIT
8 craniofacial MP:0005382 10.21 GNA11 GNAQ HRAS KIT MITF NF1
9 limbs/digits/tail MP:0005371 10.11 GNA11 GNAQ KIT MITF NF1 NGFR
10 no phenotypic analysis MP:0003012 10.11 CD274 CD68 CDKN2A HRAS KIT MITF
11 hearing/vestibular/ear MP:0005377 10.08 GNA11 GNAQ KIT MITF NF1 NGFR
12 normal MP:0002873 10.02 GNA11 GNAQ HRAS KIT MITF NF1
13 neoplasm MP:0002006 10.01 CD34 CDKN2A HRAS KIT NF1 NRAS
14 pigmentation MP:0001186 10 CDKN2A GNA11 GNAQ KIT MITF MLANA
15 renal/urinary system MP:0005367 9.76 GNA11 GNAQ HRAS KIT MITF NF1
16 respiratory system MP:0005388 9.56 CDKN2A GNA11 GNAQ HRAS KIT NF1
17 skeleton MP:0005390 9.4 CD274 CD68 CDKN2A GNA11 GNAQ HRAS
Sources

Drugs & Therapeutics for Malignant Spindle Cell Melanoma

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Drugs for Malignant Spindle Cell Melanoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pembrolizumab Approved Phase 2 1374853-91-4
2 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Trial Evaluating Resection Followed By Adjuvant Radiation Therapy (RT) For Patients With Desmoplastic Melanoma Completed NCT00060333 Phase 2
2 A Phase II and Pilot Trial of PD-1 Blockade With MK-3475 (Pembrolizumab) in Patients With Resectable or Unresectable Desmoplastic Melanoma (DM) Recruiting NCT02775851 Phase 2

Search NIH Clinical Center for Malignant Spindle Cell Melanoma

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Genetic Tests for Malignant Spindle Cell Melanoma

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Anatomical Context for Malignant Spindle Cell Melanoma

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MalaCards organs/tissues related to Malignant Spindle Cell Melanoma:

40
Skin, Lymph Node, Breast, Brain, Liver, Cervix
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Publications for Malignant Spindle Cell Melanoma

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Articles related to Malignant Spindle Cell Melanoma:

(show top 50) (show all 120)
# Title Authors PMID Year
1
Evolution of a melanoma in situ to a sarcomatoid dedifferentiated melanoma. 61
33675557 2021
2
An eyebrow lump: malignant spindle cell melanoma. 61
33728636 2021
3
Clinical challenge - scratching the surface of the sheath. 61
33610587 2021
4
Pitfalls in the diagnosis of lentigo maligna and lentigo maligna melanoma, facts and an opinion. 61
33051287 2021
5
Spindle cell melanoma coexisting with chronic lymphocytic leukemia/small lymphocytic lymphoma: a rare collision tumor in multiple sites. 61
32959377 2020
6
Correlative study of epigenetic regulation of tumor microenvironment in spindle cell melanomas and cutaneous malignant peripheral nerve sheath tumors. 61
32747660 2020
7
Enucleation after Stereotactic Radiosurgery in Patients with Uveal Melanoma. 61
32917094 2020
8
Spindle Cell Melanoma Presenting as an Ulcer in a Black Diabetic. 61
33101748 2020
9
Spindle cell melanoma arising in a burn scar: An unusual presentation with dermatoscopic findings. 61
31613413 2019
10
Oral Melanomas: A Case Series of a Deadly Neoplasm. 61
30998880 2019
11
Sarcomatoid Carcinoma With Quasi-Complete Loss of Cytokeratin Expression or Keratin-Positive Atypical Fibroxanthoma. 61
30760056 2019
12
Tapioca Melanoma of the Iris: A Case Report. 61
31660116 2019
13
Choroidal Melanoma: Our Experience. 61
31523069 2019
14
Spindle cell melanoma: Incidence and survival, 1973-2017. 61
30250577 2018
15
Desmoplastic melanoma versus spindle cell melanoma: Incidence and survival, 1973 to 2017. 61
30024556 2018
16
Rare Occurrence of an Intraocular Choroidal Solitary Fibrous Tumor/Hemangiopericytoma. 61
30643764 2018
17
Osteogenic melanoma: report of a case mimicking osteosarcoma and review of the literature. 61
29196822 2018
18
Mixed Versus Pure Variants of Desmoplastic Melanoma: The Cleveland Clinic Experience. 61
28984655 2018
19
Primary cutaneous interdigitating dendritic cell sarcoma is a morphologic and phenotypic simulator of poorly differentiated metastatic melanoma: A report of 2 cases and review of the literature. 61
28302385 2017
20
Lower Extremity Desmoplastic Malignant Melanoma in Egypt. 61
28979029 2017
21
Primary oral malignant melanoma metastasis to the brain and breast: A case report and literature review. 61
28789341 2017
22
Performance Testing of RREB1, MYB, and CCND1 Fluorescence In Situ Hybridization in Spindle-Cell and Desmoplastic Melanoma Argues for a Two-Step Test Algorithm. 61
27899693 2017
23
Ovarian metastasis from uveal melanoma with MLH1/PMS2 protein loss in a patient with germline MLH1 mutated Lynch syndrome: consequence or coincidence? 61
27915441 2017
24
Superficial malignant peripheral nerve sheath tumor with overlying intradermal melanocytic nevus mimicking spindle cell melanoma. 61
27687011 2016
25
Spindle Cell Melanoma and Interdigitating Dendritic Cell Sarcoma: Do They Represent the Same Process? 61
27299798 2016
26
Head and Neck Extranodal Interdigitating Dendritic Cell Sarcoma: Case Report and Review of the Literature. 61
25893828 2016
27
Lipomatous Change in Uveal Melanoma: Histopathological, Immunohistochemical and Cytogenetic Analysis. 61
27239451 2016
28
Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. 61
26585554 2016
29
[Immunohistochemical and genetic profiles of melanomas with spindle cell morphology]. 61
26485776 2015
30
MelanA-negative spindle-cell associated melanoma, a distinct inflammatory phenotype correlated with dense infiltration of CD163 macrophages and loss of E-cadherin. 61
25602697 2015
31
Cytologic features of pigmented atypical meningioma mimicking melanoma on intraoperative crush preparations. 61
24692367 2015
32
An unusual case of desmoplastic malignant melanoma. 61
25949027 2015
33
Comment on 'A diagnostic algorithm to distinguish desmoplastic from spindle cell melanoma'. 61
25269807 2014
34
S100A6 and c-Kit-Positive Spindle Cell Melanoma of the Dorsal Foot. 61
24932168 2014
35
A diagnostic algorithm to distinguish desmoplastic from spindle cell melanoma. 61
24051699 2014
36
Growth-associated protein 43 in differentiating peripheral nerve sheath tumors from other non-neural spindle cell neoplasms. 61
23887302 2014
37
Desmoplastic melanoma--challenges in the diagnosis and management of a rare cutaneous tumor. 61
25329125 2014
38
A nuclear circularity-based classifier for diagnostic distinction of desmoplastic from spindle cell melanoma in digitized histological images. 61
25379346 2014
39
Neurofibroma with numerous lymphoid aggregates simulating spindle cell melanoma: utilization of CD34 fingerprint for diagnosis. 61
23812017 2013
40
Desmoplastic melanoma: a review. 61
23267722 2013
41
Superficial paramucosal clear cell sarcoma of the soft parts resembling melanoma in a 13-year-old boy. 61
23228147 2013
42
Spindle cell melanoma: a comparison of the cytomorphological features with the epithelioid variant. 61
24107480 2013
43
The role of sentinel lymph node biopsy in the management of head and neck desmoplastic melanoma. 61
22766985 2012
44
BRAF, NRAS and KIT sequencing analysis of spindle cell melanoma. 61
22809251 2012
45
A histopathologic review of undiagnosed neoplasms in 205 evisceration specimens. 61
22965012 2012
46
Neurofibroma-like spindle cell melanoma: CD34 fingerprint and CGH for diagnosis. 61
22456515 2012
47
Cutaneous clear cell sarcoma: report of three cases of a potentially underestimated mimicker of spindle cell melanoma. 61
22421295 2012
48
Role of CD10, wide-spectrum keratin, p63, and podoplanin in the distinction of epithelioid and spindle cell tumors of the skin: an immunohistochemical study of 81 cases. 61
22257901 2012
49
P75 nerve growth factor receptor as a useful marker to distinguish spindle cell melanoma from other spindle cell neoplasms of sun-damaged skin. 61
22207443 2012
50
Parotid gland solitary fibrous tumor: a case report and clinicopathologic review of 22 cases from the literature. 61
22002440 2012
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Variations for Malignant Spindle Cell Melanoma

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Expression for Malignant Spindle Cell Melanoma

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Search GEO for disease gene expression data for Malignant Spindle Cell Melanoma.
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Pathways for Malignant Spindle Cell Melanoma

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Pathways related to Malignant Spindle Cell Melanoma according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Development Angiotensin activation of ERK 23
Show member pathways
 12.72 NRAS KIT HRAS GNAQ GNA11
2
MAPK signaling pathway 36 1
12.58 RASA2 NRAS NGFR NF1 KIT HRAS
3
Glioma 36
Show member pathways
 12.57 NRAS NF1 MITF HRAS CDKN2A
4
Pathways in cancer 36
12.42 NRAS MITF KIT HRAS GNAQ GNA11
5
Oxytocin signaling pathway 36
Show member pathways
 12.4 NRAS HRAS GNAQ GNA11
6
Viral carcinogenesis 36
12.19 RASA2 NRAS HRAS CDKN2A
7
Paradoxical activation of RAF signaling by kinase inactive BRAF 65
Show member pathways
 12.18 RASA2 NRAS NF1 HRAS
8
Ras signaling pathway 36
Show member pathways
 12.15 RASA2 NRAS NGFR NF1 KIT HRAS
9
Aldosterone synthesis and secretion 36
Show member pathways
 12 TYR NRAS MITF KIT HRAS GNAQ
10
UVA-Induced MAPK Signaling 63
Show member pathways
 11.95 NRAS HRAS GNAQ GNA11
11
Oncogenic MAPK signaling 65
Show member pathways
 11.94 RASA2 NRAS NF1 HRAS
12
Signaling by PTK6 65
Show member pathways
 11.91 RASA2 NRAS NF1 HRAS
13
MAP Kinase Signaling 4
11.83 NRAS NF1 HRAS GNAQ
14
Glioblastoma Multiforme 63
11.8 NRAS NF1 HRAS CDKN2A
15
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.79 NGFR KIT CD34
16
VEGF Pathway (Tocris) 69
Show member pathways
 11.72 NRAS KIT HRAS
17
C-MYB transcription factor network 1
11.69 NRAS KIT CD34
18
Bladder cancer 36 1
11.65 NRAS HRAS CDKN2A
19
Gap junction 36
11.65 NRAS HRAS GNAQ GNA11
20
Central carbon metabolism in cancer 36
11.63 NRAS KIT HRAS
21
Mitophagy - animal 36
11.61 NRAS MITF HRAS
22
LPA receptor mediated events 1
11.58 HRAS GNAQ GNA11
23
GnRH secretion 36
11.43 NRAS HRAS GNAQ GNA11
24
Aryl Hydrocarbon Receptor 1
11.4 NRAS NF1 HRAS
25
Long-term depression 36
11.34 NRAS HRAS GNAQ GNA11
26
Melanocyte Development and Pigmentation 63
11.31 SOX10 MITF KIT
27
Serotonin Receptor 2 and ELK-SRF/GATA4 signaling 1
10.85 NRAS HRAS GNAQ
28
p38MAPK events 65
10.74 NRAS HRAS
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GO Terms for Malignant Spindle Cell Melanoma

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Cellular components related to Malignant Spindle Cell Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.5 TYR SOX10 S100A6 PMEL NRAS NGFR
2 melanosome GO:0042470 9.13 TYR PMEL MLANA

Biological processes related to Malignant Spindle Cell Melanoma according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.8 SOX10 MITF KIT HRAS CDKN2A CD34
2 MAPK cascade GO:0000165 9.77 RASA2 NRAS NF1 KIT HRAS
3 signal transduction GO:0007165 9.7 S100A6 RASA2 NRAS NGFR NF1 KIT
4 negative regulation of protein kinase activity GO:0006469 9.69 NF1 GNAQ CDKN2A
5 positive regulation of phospholipase C activity GO:0010863 9.52 KIT HRAS
6 melanin biosynthetic process GO:0042438 9.49 TYR PMEL
7 developmental pigmentation GO:0048066 9.48 KIT GNA11
8 somatic stem cell division GO:0048103 9.46 KIT CDKN2A
9 Ras protein signal transduction GO:0007265 9.46 NRAS NF1 HRAS CDKN2A
10 phototransduction, visible light GO:0007603 9.43 GNAQ GNA11
11 melanocyte differentiation GO:0030318 9.43 SOX10 MITF KIT
12 entrainment of circadian clock GO:0009649 9.4 GNAQ GNA11
13 pigmentation GO:0043473 8.92 TYR NF1 MITF KIT

Molecular functions related to Malignant Spindle Cell Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 type 2A serotonin receptor binding GO:0031826 8.62 GNAQ GNA11
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Sources for Malignant Spindle Cell Melanoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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