Aliases & Classifications for Angiomatosis

MalaCards integrated aliases for Angiomatosis:

Name: Angiomatosis 54 55 73

External Ids:

UMLS 73 C0002992

Summaries for Angiomatosis

NINDS : 54 Von Hippel-Lindau disease (VHL) is a rare, genetic multi-system disorder in which non-cancerous tumors grow in certain parts of the body. Slow-growing hemgioblastomas -- benign tumors with many blood vessels -- may develop in the brain, spinal cord, the retinas of the eyes, and near the inner ear. Cysts (fluid-filled sacs) may develop around the hemangioblastomas. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among individuals and depend on the size and location of the tumors. Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

MalaCards based summary : Angiomatosis is related to von hippel-lindau syndrome and tuberous sclerosis 1. An important gene associated with Angiomatosis is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways/superpathways is Translation Translation regulation by Alpha-1 adrenergic receptors. The drugs Miconazole and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and kidney, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Angiomatosis

Diseases related to Angiomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 148)
# Related Disease Score Top Affiliating Genes
1 von hippel-lindau syndrome 31.9 TSC2 VHL
2 tuberous sclerosis 1 29.0 CCL26 TSC2
3 tuberous sclerosis 28.2 CCL26 TSC2 VHL
4 bacillary angiomatosis 12.4
5 diffuse dermal angiomatosis 12.3
6 sturge-weber syndrome 12.1
7 skeletal-extraskeletal angiomatosis 12.0
8 breast angiomatosis 12.0
9 familial capillaro-venous leptomeningeal angiomatosis 12.0
10 angiomatosis, diffuse corticomeningeal, of divry and van bogaert 11.9
11 angiomatosis, leptomeningeal capillary venous 11.9
12 cystic angiomatosis of bone, diffuse 11.8
13 cobb syndrome 11.3
14 bartonellosis 11.2
15 gorham's disease 11.2
16 autism with port-wine stain 10.9
17 encephalocraniocutaneous lipomatosis 10.9
18 multifocal lymphangioendotheliomatosis with thrombocytopenia 10.8
19 multiple enchondromatosis, maffucci type 10.8
20 retinitis 10.3
21 weber syndrome 10.2
22 sarcoma 10.2
23 cat-scratch disease 10.1
24 acquired immunodeficiency syndrome 10.1
25 cerebritis 10.0
26 thrombocytopenia 10.0
27 meningitis 10.0
28 mediastinitis 10.0
29 hepatitis 9.9
30 leukemia 9.9
31 leukemia, chronic lymphocytic 2 9.9
32 leukemia, chronic lymphocytic 9.9
33 graft-versus-host disease 9.9
34 leukemia, b-cell, chronic 9.9
35 endotheliitis 9.9
36 calciphylaxis 9.8
37 pyogenic granuloma 9.8
38 pancreatitis 9.8
39 cervicitis 9.8
40 kaposi sarcoma 9.8
41 klippel-trenaunay-weber syndrome 9.8
42 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7 CCL26 TSC2
43 neuropathy 9.7
44 peliosis hepatis 9.7
45 burns 9.7
46 cryptococcal meningitis 9.7
47 reactive angioendotheliomatosis 9.7
48 lung cancer 9.7
49 hemangioma 9.7
50 angiodysplasia 9.7

Graphical network of the top 20 diseases related to Angiomatosis:



Diseases related to Angiomatosis

Symptoms & Phenotypes for Angiomatosis

GenomeRNAi Phenotypes related to Angiomatosis according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.53 TSC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.53 PLAG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.53 TSC2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.53 TSC2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.53 PLAG1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.53 VHL
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.53 TSC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.53 VHL
9 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.53 TSC2 VHL PLAG1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.53 PLAG1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 PLAG1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.53 VHL
13 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.53 TSC2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.53 PLAG1

MGI Mouse Phenotypes related to Angiomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.26 DLK1 PLAG1 TSC2 VHL
2 growth/size/body region MP:0005378 9.02 GNAQ PLAG1 TSC2 VHL DLK1

Drugs & Therapeutics for Angiomatosis

Drugs for Angiomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
2
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
4 Anti-Bacterial Agents Phase 2, Phase 3
5 Antibiotics, Antitubercular Phase 2, Phase 3
6 Immunosuppressive Agents Phase 2, Phase 3
7 Anti-Infective Agents Phase 2, Phase 3
8 Antifungal Agents Phase 2, Phase 3
9 Pharmaceutical Solutions Phase 2, Phase 3,Phase 1
10
Ranibizumab Approved Phase 1, Phase 2,Phase 2 347396-82-1 459903
11
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
12
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
13
Etravirine Approved Phase 2 269055-15-4 193962
14
Ritonavir Approved, Investigational Phase 2 155213-67-5 392622
15
Darunavir Approved Phase 2 635728-49-3, 206361-99-1 213039
16
Pancrelipase Approved, Investigational Phase 2 53608-75-6
17
Histidine Approved, Nutraceutical Phase 1, Phase 2 71-00-1 6274
18
Vatalanib Investigational Phase 2 212141-54-3 151194
19 Fluorodeoxyglucose F18 Phase 2
20 Angiogenesis Inhibitors Phase 2,Phase 1,Early Phase 1
21 Angiogenesis Modulating Agents Phase 2,Phase 1,Early Phase 1
22 Protein Kinase Inhibitors Phase 2
23 Radiopharmaceuticals Phase 2
24 Anticonvulsants Phase 1, Phase 2
25 pancreatin Phase 2
26
protease inhibitors Phase 2
27 Raltegravir Potassium Phase 2
28 Reverse Transcriptase Inhibitors Phase 2
29 HIV Integrase Inhibitors Phase 2
30 Cytochrome P-450 CYP3A Inhibitors Phase 2
31 HIV Protease Inhibitors Phase 2
32 Cytochrome P-450 Enzyme Inhibitors Phase 2
33 Nucleic Acid Synthesis Inhibitors Phase 2
34 Integrase Inhibitors Phase 2
35 Anti-HIV Agents Phase 2
36 Anti-Retroviral Agents Phase 2
37 Antiviral Agents Phase 2
38
Bevacizumab Approved, Investigational Phase 1,Early Phase 1 216974-75-3
39
Timolol Approved Phase 1 26839-75-8 33624 5478
40
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
41
Maleic acid Experimental Phase 1 110-16-7 444266
42 Antibodies Phase 1
43 Immunoglobulins Phase 1
44 Antibodies, Monoclonal Phase 1
45 Adrenergic Agents Phase 1
46 Adrenergic Antagonists Phase 1
47 Adrenergic beta-Antagonists Phase 1
48 Neurotransmitter Agents Phase 1
49 Tetrahydrozoline Phase 1
50 Ophthalmic Solutions Phase 1

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome Recruiting NCT03047980 Phase 2, Phase 3 Sirolimus
2 Use of Tracking Devices to Locate Abnormalities During Invasive Procedures Recruiting NCT00102544 Phase 3
3 Study of Sunitinib in Patients With Von Hippel-Lindau (VHL) Disease Completed NCT01168440 Phase 2 Sunitinib
4 Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome Completed NCT02080624 Phase 2 Drug: Topical Rapamycin
5 Treatment of Exudative and Vasogenic Chorioretinal Diseases Including Variants of AMD and Other CNV Related Maculopathy Completed NCT00470977 Phase 1, Phase 2 ranibizumab injection (0.5 mg)
6 Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584 Completed NCT00052013 Phase 2 PTK787/ZK 222584
7 Phase II Study of Vandetanib in Individuals With Kidney Cancer Completed NCT00566995 Phase 2 ZACTIMA (Vandetanib) (ZD6474)
8 17AAG to Treat Kidney Tumors in Von Hippel-Lindau Disease Completed NCT00088374 Phase 2 17 allylamino-17-demethoxygeldanamycin;18 FDG (Fludeoxyglucose 18F);[15-O] H2O;EPL diluent
9 A Phase 2 Study of PT2977 for the Treatment of Von Hippel Lindau Disease-Associated Renal Cell Carcinoma Recruiting NCT03401788 Phase 2 PT2977
10 A Phase I/II Trial for Intravitreous Treatment of Severe Ocular Von Hippel-Lindau Disease Using a Combination of the PDGF Antagonist E10030 and the VEGF Antagonist Ranibizumab Active, not recruiting NCT02859441 Phase 1, Phase 2 Ranibizumab;E10030
11 PT2385 for the Treatment of Von Hippel-Lindau Disease-Associated Clear Cell Renal Cell Carcinoma Active, not recruiting NCT03108066 Phase 2 PT2385 Tablets
12 Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome Active, not recruiting NCT02332655 Phase 1, Phase 2 Cannabidiol
13 Pazopanib in Von Hippel-Lindau (VHL) Syndrome Active, not recruiting NCT01436227 Phase 2 Pazopanib
14 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
15 Dose-finding Study of GSK2248761 in Antiretroviral Therapy-experienced Subjects With NNRTI-resistant HIV Infection Terminated NCT01199731 Phase 2 GSK2248761 100 mg once daily;GSK2248761 200 mg once daily;Etravirine
16 TKI 258 in Von Hippel-Lindau Syndrome (VHL) Terminated NCT01266070 Phase 2 Dovitinib
17 Sunitinib Malate to Treat Advanced Eye Disease in Patients With Von Hippel-Lindau Syndrome Terminated NCT00673816 Phase 1, Phase 2 Sunitinib Malate
18 Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to Follow Terminated NCT00330564 Phase 2 SU011248
19 Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS) Withdrawn NCT01997255 Phase 2 Everolimus
20 EYE001 to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00056199 Phase 1 EYE001
21 Use of the Atkins Diet for Children With Sturge Weber Syndrome Completed NCT00639730 Phase 1
22 Ranibizumab Injections to Treat Retinal Tumors in Patients With Von Hippel-Lindau Syndrome Completed NCT00089765 Phase 1 Ranibizumab
23 Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol Recruiting NCT01533376 Phase 1 Timolol;Preservative free artificial tear gel.
24 Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only) Enrolling by invitation NCT02108002 Phase 1 Vorinostat
25 Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease? Unknown status NCT02207686
26 Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl System Unknown status NCT02120040 Not Applicable
27 Incidence of Hepatic Hemangiomatosis in Patients With Cutaneous Hemangiomas Completed NCT00374335 Not Applicable
28 Hemangioma Associated With High Rates of Morbidity Completed NCT00394888 Not Applicable
29 Natural History and Management of Pancreatic Lesions in Von Hippel-Lindau Disease Completed NCT00062166
30 Biomarker Development in Sturge-Weber Syndrome Completed NCT01345305
31 Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease Completed NCT00970970
32 Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS) Completed NCT00610402
33 Genetic Study to Identify Gene Mutations in Participants Previously Enrolled in Clinical Trial NCI-99-C-0053 Who Have Von Hippel-Lindau Syndrome or Are at Risk for Von Hippel-Lindau Syndrome Completed NCT00075348
34 Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors Completed NCT00001668
35 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
36 Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients Recruiting NCT02420067
37 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
38 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
39 Lymphatic Anomalies Registry Recruiting NCT02399527
40 National Eye Institute Biorepository for Retinal Diseases Recruiting NCT01496625
41 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome Recruiting NCT01425944
42 French National Cohort of Children With Port Wine Stain Active, not recruiting NCT01364857 Not Applicable
43 Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau Disease Active, not recruiting NCT00005902
44 Von Hippel-Lindau Disease Genetic Epidemiology Study Active, not recruiting NCT00001803
45 Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau Disease Terminated NCT01015300 Early Phase 1 Avastin

Search NIH Clinical Center for Angiomatosis

Genetic Tests for Angiomatosis

Anatomical Context for Angiomatosis

MalaCards organs/tissues related to Angiomatosis:

41
Retina, Eye, Kidney, Brain, Spinal Cord, Bone, Pancreas

Publications for Angiomatosis

Articles related to Angiomatosis:

(show top 50) (show all 574)
# Title Authors Year
1
Virginal breast hypertrophy: clinicopathological similarities between virginal breast hypertrophy and diffuse dermal angiomatosis of the breast. ( 29976539 )
2018
2
Bacillary Angiomatosis in an Immunocompetent Individual. ( 29854648 )
2018
3
Angiomatosis of the Orbit: Clinical, Imaging, and Histologic Findings. ( 29342032 )
2018
4
Sustained response of graft-versus-host disease-associated angiomatosis treated with propranolol. ( 29756271 )
2018
5
Preoperative radiation in large angiomatosis of the breast, attempting breast conserving surgery: multidisciplinary approach. ( 29479420 )
2018
6
NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. ( 29423877 )
2018
7
Delayed Appearance of Cutaneous Lesions of Cutaneovisceral Angiomatosis (CAT) Leading to Misdiagnosis of Immune Thrombocytopenia. ( 28234740 )
2017
8
Diffuse angiomatosis with severe facial disfigurement. ( 28052359 )
2017
9
A case of suspected diffuse dermal angiomatosis associated with severe atherosclerosis. ( 28466447 )
2017
10
Diffuse Dermal Angiomatosis of the Breast: A Distinct Entity in the Spectrum of Cutaneous Reactive Angiomatoses - Clinicopathologic Study of Two Cases and Comprehensive Review of the Literature. ( 29282392 )
2017
11
An unusual case of bacillary angiomatosis in the oral cavity of an AIDS patient who had no concomitant tegumentary lesions - case report and review. ( 28902296 )
2017
12
Diffuse dermal angiomatosis mimicking inflammatory breast carcinoma. ( 28744985 )
2017
13
Intracranial Complications From Temporal Bone Cystic Angiomatosis. ( 27918367 )
2017
14
Focal angiomatosis of the breast with MRI and histologic features. ( 28491155 )
2017
15
Feline vertebral angiomatosis: two cases. ( 29276623 )
2017
16
Cervicothoracic cutaneomeningospinal angiomatosis in adults (Cobb's syndrome): A case report of acute quadriparesis. ( 28791190 )
2017
17
Angiomatosis, Bacillary ( 28846267 )
2017
18
Systemic Cystic Angiomatosis Mimicking Metastatic Cancer: A Case Report and Review of the Literature. ( 29085430 )
2017
19
Solitary mediastinal angiomatosis: report of two cases and review of the literature. ( 29256416 )
2017
20
Angiomatosis of the uterus, cervix and fallopian tubes: a rare and benign cause of intractable, heavy menstrual bleeding. ( 29197842 )
2017
21
Angiomatosis of soft tissue as an important differential diagnosis for intramuscular venous malformations. ( 27688038 )
2017
22
Bullous erythema ab igne with cutaneous reactive angiomatosis. ( 27226050 )
2016
23
Persistent cutaneous abdominal ulcerations secondary to diffuse dermal angiomatosis: an underestimated sign for severe atherosclerosis: A case report. ( 27442644 )
2016
24
Bacillary angiomatosis presenting with polymorphic skin lesions. ( 27752473 )
2016
25
Dumbbell-Mimicked Mediastinal Angiomatosis. ( 27847080 )
2016
26
Endothelial chimerism in chronic sclerotic-type chronic Graft-versus-Host disease and GVHD-associated angiomatosis. ( 26875995 )
2016
27
Bacillary angiomatosis presenting with facial tumor and multiple abscesses: A case report. ( 27428207 )
2016
28
Cystic angiomatosis, a heterogeneous condition: Four new cases and a literature review. ( 27787381 )
2016
29
Disseminated Skeletal Angiomatosis Initially Misdiagnosed As Metastatic Tumor: A Case Report. ( 28974963 )
2016
30
Angiomatosis dAcrmica difusa de la mama: aportaciA^n de un nuevo caso en paciente no fumadora. ( 27617469 )
2016
31
Bacillary angiomatosis with bone invasion. ( 28099606 )
2016
32
Diffuse Dermal Angiomatosis of the Breast With an Apparent Etiology of Underlying Calcified Thrombosed Artery With Adjacent Fat Necrosis. ( 27097335 )
2016
33
Successful treatment of bacillary angiomatosis with oral doxycycline in an HIV-infected child with skin lesions mimicking Kaposi sarcoma. ( 27051835 )
2016
34
Breast nodularity and ulceration: diffuse dermal angiomatosis a corticosteroid responsive disease. ( 28329566 )
2016
35
Obscure Overt Gastrointestinal Bleeding Due To Isolated Small Bowel Angiomatosis. ( 27144197 )
2016
36
Graft-versus-host Disease-associated Angiomatosis Treated With Topical Timolol Solution. ( 27191176 )
2016
37
Pneumothorax-associated fibroblastic lesion in combination with localized pleural angiomatosis: A possible cause of juvenile spontaneous hemopneumothorax. ( 25749626 )
2015
38
Diffuse Dermal Angiomatosis: A Clue to the Diagnosis of Atherosclerotic Vascular Disease. ( 26120304 )
2015
39
Diffuse dermal angiomatosis of the abdomen. ( 26066057 )
2015
40
Diffuse dermal angiomatosis associated with severe atherosclerosis: two cases and review of the literature. ( 25639294 )
2015
41
Bacillary Angiomatosis in Immunocompetent Patient with Atypical Manifestations. ( 26538736 )
2015
42
Pulmonary manifestation of a condition resembling Kasabach-Merritt syndrome in a woman with abdominal angiomatosis associated with consumptive coagulopathy--surgical management: a case report. ( 25956942 )
2015
43
Cutaneous bacillary angiomatosis due to Bartonella quintana in a renal transplant recipient. ( 25652715 )
2015
44
Mediastinal angiomatosis: a rare case report. ( 26793386 )
2015
45
Imaging features of systemic cystic angiomatosis. ( 26141486 )
2015
46
Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion. ( 26247458 )
2015
47
Diffuse dermal angiomatosis: a clinical mimicker of vasculitis associated with calciphylaxis and monoclonal gammopathy. ( 25502367 )
2015
48
Vaginal angiomatosis: differential diagnosis of a rare case. ( 26401116 )
2015
49
Bacillary angiomatosis: A rare finding in the setting of antiretroviral drugs. ( 26636153 )
2015
50
Letter to the Editor Regarding Sturge-Weber Syndrome (Encephalotrigeminal Angiomatosis): Recent Advances and Future Challenges. ( 26147014 )
2015

Variations for Angiomatosis

Expression for Angiomatosis

Search GEO for disease gene expression data for Angiomatosis.

Pathways for Angiomatosis

Pathways related to Angiomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.71 GNAQ TSC2

GO Terms for Angiomatosis

Biological processes related to Angiomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein stabilization GO:0050821 9.16 GNAQ VHL
2 negative regulation of protein kinase activity GO:0006469 8.96 GNAQ TSC2
3 positive regulation of GTPase activity GO:0043547 8.8 CCL26 GNAQ TSC2

Sources for Angiomatosis

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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