Lipedema disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lipedema

MalaCards integrated aliases for Lipedema:

Name: Lipedema ⁵⁷ ¹⁹ ⁵ ⁷¹ ⁷⁵

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
virtually all patients with this condition are female
torso and upper body remain normal in shape and contour
feet are unaffected

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614103

MedGen ⁴⁰ C0398370

SNOMED-CT via HPO ⁶⁹ 20741006 234102003 267038008 more

UMLS ⁷¹ C0398370

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Summaries for Lipedema

OMIM®: ⁵⁷ Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects women almost exclusively and, in most instances, represents an exaggeration of the female form (summary by Hines, 1952). (614103) (Updated 08-Dec-2022)

MalaCards based summary: Lipedema is related to fibromyalgia and nutritional deficiency disease. An important gene associated with Lipedema is AKR1C1 (Aldo-Keto Reductase Family 1 Member C1), and among its related pathways/superpathways are Spinal cord injury and Adipogenesis. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, adipocyte and lymph node, and related phenotypes are edema and lipedema

Wikipedia: ⁷⁵ Lipedema is a condition that is almost exclusively found in women and results in enlargement of both... more...

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Related Diseases for Lipedema

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

(show top 50) (show all 146)

#	Related Disease	Score	Top Affiliating Genes
1	fibromyalgia	29.6	LEP IL6
2	nutritional deficiency disease	29.6	LEP IL6
3	connective tissue disease	29.5	PPARG LEP IL6
4	leptin deficiency or dysfunction	29.4	PPARG LEP IL6
5	lipid metabolism disorder	29.4	PPARG LEP IL6
6	vascular disease	29.3	PPARG LEP IL6
7	body mass index quantitative trait locus 11	29.0	PPARG LEP IL6
8	adiposis dolorosa	11.2
9	hereditary lymphedema i	10.7
10	lipomatosis, multiple	10.3
11	primary lymphedema	10.2
12	body mass index quantitative trait locus 1	10.1
13	venous insufficiency	10.1
14	cellulitis	10.1
15	lymphatic system disease	10.1
16	eating disorder	10.1
17	alopecia	10.1
18	ulcer of lower limbs	10.0	PPARG IL6
19	alzheimer disease 11	10.0	PPARG IL6
20	migraine with or without aura 1	10.0
21	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.0
22	varicose veins	10.0
23	rhabdomyosarcoma 2	10.0
24	leukemia, acute lymphoblastic 3	10.0
25	b-lymphoblastic leukemia/lymphoma	10.0
26	dermatomyositis	10.0
27	hypolipoproteinemia	10.0
28	hypothyroidism	10.0
29	mood disorder	10.0
30	lymphopenia	10.0
31	sebaceous gland disease	10.0	PPARG IL6
32	middle east respiratory syndrome	10.0	PPARG IL6
33	proteasome-associated autoinflammatory syndrome 1	9.9	PPARG IL6
34	amelogenesis imperfecta, type ig	9.9	PPARG IL6
35	monocytic leukemia	9.9	PPARG IL6
36	acquired generalized lipodystrophy	9.9	PPARG LEP
37	complete generalized lipodystrophy	9.9	PPARG LEP
38	lipodystrophy, familial partial, type 3	9.9	PPARG LEP
39	lipodystrophy, congenital generalized, type 2	9.9	PPARG LEP
40	colonic benign neoplasm	9.9	PPARG IL6
41	lipodystrophy, familial partial, type 2	9.9	PPARG LEP
42	familial partial lipodystrophy	9.8	PPARG LEP
43	abdominal obesity-metabolic syndrome 1	9.8	PPARG LEP
44	obesity-hypoventilation syndrome	9.8	LEP IL6
45	atypical depressive disorder	9.8	LEP IL6
46	spinal cord injury	9.8	LEP IL6
47	gastroesophageal reflux	9.8
48	sotos syndrome	9.8
49	dentin dysplasia, type i	9.8
50	hair whorl	9.8

Graphical network of the top 20 diseases related to Lipedema:

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Symptoms & Phenotypes for Lipedema

Human phenotypes related to Lipedema:

³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	edema ³⁰			HP:0000969
2	lipedema ³⁰			HP:0100695

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Muscle Soft Tissue:
excess fat, symmetrically located in buttocks and lower extremities to ankles
fat pad anterior to malleolus
fat pad between achilles tendon and medial malleolus
tenderness of lower extremities
easy bruisability of lower extremities
more

Neurologic Central Nervous System:
burning or tingling of plantar surface of foot (in some patients)

Clinical features from OMIM®:

614103 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Lipedema

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

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

2

Tannic acid

Approved

1401-55-4

16129878 16129778

3

Cardiac Glycosides

4

Hormones

Interventional clinical trials:

(show all 26)

#	Name	Status	NCT ID	Phase	Drugs
1	An Open Label, Phase 2a Clinical Trial for the Evaluation of Safety and Efficacy of RZL-012 for the Treatment of Women With Lipedema Involving Substantial Fat Above the Knee or of Women and Men With Nodular Dercum's Disease	Completed	NCT04076891	Phase 2	RZL-012
2	An Open Label, Phase 2a Clinical Trial for the Evaluation of Safety and Efficacy of RZL-012 for the Treatment of Women With Lipedema Involving Substantial Fat Above the Knee or of Women and Men With Nodular Dercum's Disease	Completed	NCT03492840	Phase 2	RZL-012
3	HYPOXI for Women With Lipedema	Unknown status	NCT03853083
4	The Effect of Trunk Stabilization Exercises on Postural Stability at Lipoedema Patients	Unknown status	NCT04166084
5	Phase I/II Combinational Investigational New Drug Application: Imaging Lymphatic Function in Normal Subjects and in Persons With Lymphatic Disorders	Unknown status	NCT00833599		NIRFLI with ICG
6	Insight Into Subcutaneous Adipose Tissue Disorders As Part of The TREAT Program (Treatment, Research, Education, Adipose Tissue) at the University of Arizona	Unknown status	NCT02838277
7	An Investigator-initiated Study Assessing the Effect of Intermittent Pneumatic Compression (IPC) on Symptoms and Quality of Life in Women With Lipo-lymphedema (Lipedema With Swelling)	Completed	NCT04213989
8	Comparison of Complete Decongestive Therapy (CDT) With Intermittent Pneumatic Compression (IPK) for Treatment of Lipedema	Completed	NCT03924999
9	The Effects of Complex Decongestive Physiotherapy Applications on Upper Extremity Circumference and Volume in Patients With Lipedema	Completed	NCT04643392
10	Vasculera in Participants With Lipedema an Exploratory Controlled Case Study	Completed	NCT05616962
11	Effect of an Low Carbon High Fat Diet on Pain- and Quality of Life in Patients With Lipedema	Completed	NCT03710798
12	Complete Decongestive Therapy With Negative Pressure for Lipedema and Lymphedema Therapy	Completed	NCT03634462
13	The Effect of Complex Decongestive Applications on Lower Extremity Limb Volume in Patients With Lipedema	Completed	NCT04492046
14	Muscle Strength and Physical Fitness in Patients With Lipedema and Obesity: a Prospective Cross-sectional Pilot Study	Completed	NCT01759004
15	Quadrivas Therapy® to Reduce Lipedema Subcutaneous Adipose Tissue (QUADRIVAS)	Completed	NCT02907411
16	Effect of Weight Loss on Body Composition and Metabolic Function in Women With Lipedema	Recruiting	NCT03271034
17	The Norwegian LIPODIET Study: Effect of Ketosis on Pain and Quality of Life in Patients With Lipedema	Recruiting	NCT04632810
18	Surical Treatment of Lipedema in Norway - a National Multicenter Study	Recruiting	NCT05284266
19	Evaluation of Neuropathic Pain in Lipedema	Recruiting	NCT05329324
20	The Effects of Endurance Training in Women With Lipedema	Recruiting	NCT05488977
21	Visualizing Vascular Mechanisms of Lipedema	Recruiting	NCT05464927
22	A Novel Approach to Examine the Adipose Cellular Kinetics of Lipedema	Recruiting	NCT05394467
23	Vascular Lab Resource (VLR) Biorepository Study	Recruiting	NCT05628948
24	Pain Characteristics, Intensity, Patterns, Impact and Quality of Life in Women With Lipoedema: an Online Survey	Recruiting	NCT05114317
25	Multicentre, Controlled, Randomized, Investigator-blinded Clinical Trial on Efficacy and Safety of Surgical Therapy of Lipedema Compared to Complex Physical Decongestive Therapy Alone (LIPLEG)	Active, not recruiting	NCT04272827
26	Williams Syndrome SHAAPE STUDY [Strength, Hormones, Activity & Adiposity, DNA Programming, Eating Study]	Active, not recruiting	NCT03758651

Search NIH Clinical Center for Lipedema

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Genetic Tests for Lipedema

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Anatomical Context for Lipedema

Organs/tissues related to Lipedema:

MalaCards : Skin, Adipocyte, Lymph Node, Bone, Endothelial, Heart

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Publications for Lipedema

Articles related to Lipedema:

(show top 50) (show all 253)

#	Title	Authors	PMID	Year
1	Lipedema: an inherited condition. ⁶² ⁵⁷	Child AH...Mortimer PS	20358611	2010
2	Lipedema: a clinical entity distinct from lymphedema. ⁶² ⁵⁷	Rudkin GH...Miller TA	7972431	1994
3	Lipedema--the non-lymphatic masquerader. ⁶² ⁵⁷	Beninson J...Edelglass JW	6476475	1984
4	Lipedema and physiologic edema. ⁶² ⁵⁷	HINES EA	14900206	1952
5	Lipedema of the legs; a syndrome characterized by fat legs and edema. ⁶² ⁵⁷	WOLD LE...ALLEN EV	14830102	1951
6	Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors. ⁶²	Klimentidis YC...Herbst KL	36385154	2022
7	Thigh swelling in patients with lipedema - subjective perception versus objective examination. ⁶²	Erbacher G...Bertsch T	36336982	2022
8	Pathophysiology of cellulite: Possible involvement of selective endotoxemia. ⁶²	Kruglikov IL...Scherer PE	36285892	2022
9	The Difficulties in Emotional Regulation among a Cohort of Females with Lipedema. ⁶²	Al-Wardat M...Di Renzo L	36294260	2022
10	Indications of Peripheral Pain, Dermal Hypersensitivity, and Neurogenic Inflammation in Patients with Lipedema. ⁶²	Chakraborty A...Rutkowski JM	36142221	2022
11	Lipedema. ⁶²	Lombardo S	36048228	2022
12	Physical Therapy in Women with Early Stage Lipedema: Potential Impact of Multimodal Manual Therapy, Compression, Exercise, and Education Interventions. ⁶²	Donahue PMC...Donahue MJ	34748408	2022
13	Deep learning for standardized, MRI-based quantification of subcutaneous and subfascial tissue volume for patients with lipedema and lymphedema. ⁶²	Nowak S...Attenberger UI	35976393	2022
14	Effect of a ketogenic diet on pain and quality of life in patients with lipedema: The LIPODIET pilot study. ⁶²	Sorlie V...Nymo S	35949278	2022
15	Editorial for "Subcutaneous Adipose Tissue Edema in Lipedema Revealed by Noninvasive 3T Magnetic Resonance Lymphangiography". ⁶²	Wang L	35979906	2022
16	A Case Series of Lymphatic Injuries After Suction Lipectomy in Women with Lipedema. ⁶²	Wright TF...Herbst KL	35811389	2022
17	Lymphatic function and anatomy in early stages of lipedema. ⁶²	Rasmussen JC...Sevick-Muraca EM	35707862	2022
18	Subcutaneous Adipose Tissue Edema in Lipedema Revealed by Noninvasive 3T MR Lymphangiography. ⁶²	Crescenzi R...Donahue MJ	35657120	2022
19	Lower Limb Lipedema-Superficial Lymph Flow, Skin Water Concentration, Skin and Subcutaneous Tissue Elasticity. ⁶²	Zaleska MT...Krzesniak NE	35675661	2022
20	Current Mechanistic Understandings of Lymphedema and Lipedema: Tales of Fluid, Fat, and Fibrosis. ⁶²	Duhon BH...Rutkowski JM	35743063	2022
21	Lipedema in Male Progressing to Subclinical and Clinical Systemic Lymphedema. ⁶²	Pereira de Godoy LM...Pereira de Godoy JM	35837085	2022
22	Ultrasound examination for en-suite measurements in lipedema. ⁶²	Guvener O...Ozcakar L	34979823	2022
23	Multi-Level Analysis of Adipose Tissue Reveals the Relevance of Perivascular Subpopulations and an Increased Endothelial Permeability in Early-Stage Lipedema. ⁶²	Strohmeier K...Priglinger E	35625899	2022
24	Characteristics and Patient Reported Outcome Measures in Lipedema Patients-Establishing a Baseline for Treatment Evaluation in a High-Volume Center. ⁶²	Hamatschek M...Kueckelhaus M	35628962	2022
25	Reply letter to the editor regarding ultrasound examination for en-suite measurements in lipedema. ⁶²	Amato AC...Saucedo DZ	35505601	2022
26	Persistent lipedema pain in patients after bariatric surgery: a case series of 13 patients. ⁶²	Cornely ME...Schmidt J	35144895	2022
27	[Diagnosis and treatment of lipedema in Spain. Results of an online survey]. ⁶²	Vaquero Ramiro E...Solera-Martinez M	33461763	2022
28	Capillary Western Immunoassay Optimization of Estrogen Related Factors in Human Subcutaneous Adipose Tissue. ⁶²	Hill JL...Foster MT	35448699	2022
29	A 10-Year Retrospective before-and-after Study of Lipedema Surgery: Patient-Reported Lipedema-Associated Symptom Improvement after Multistage Liposuction. ⁶²	Kruppa P...Ghods M	35089257	2022
30	Key signaling networks are dysregulated in patients with the adipose tissue disorder, lipedema. ⁶²	Ishaq M...Karnezis T	34764426	2022
31	Indocyanine green lymphography as novel tool to assess lymphatics in patients with lipedema. ⁶²	Buso G...Mazzolai L	34896377	2022
32	Reducing Circumference and Volume in Upper Extremity Lipedema: The Role of Complex Decongestive Physiotherapy. ⁶²	Volkan-Yazici M...Esmer M	33798399	2022
33	A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy. ⁶²	Michelini S...Bertelli M	35207755	2022
34	Hypotheses and Evolution in the Current Treatment of Lipedema Syndrome. ⁶²	Pereira de Godoy JM...Guerreiro Godoy MF	35317365	2022
35	The Effect of a Low-Carbohydrate, High-Fat Diet versus Moderate-Carbohydrate and Fat Diet on Body Composition in Patients with Lipedema. ⁶²	Jeziorek M...Regulska-Ilow B	36035515	2022
36	Lipedema prevalence and risk factors in Brazil. ⁶²	Amato ACM...Benitti DA	35677743	2022
37	Is subcutaneous adipose tissue expansion in people living with lipedema healthier and reflected by circulating parameters? ⁶²	Nankam PAN...Bluher M	36387874	2022
38	Body Composition Assessment by Dual-Energy X-Ray Absorptiometry: A Useful Tool for the Diagnosis of Lipedema. ⁶²	Buso G...Mazzolai L	36310013	2022
39	Differential diagnosis of chronic lower limb edema. ⁶²	Ambroz D	36208949	2022
40	Women's experiences of living with lipedema. ⁶²	Melander C...Olsson M	34252343	2022
41	Standard of care for lipedema in the United States. ⁶²	Herbst KL...Larson E	34049453	2021
42	Management of Lipedema with Ketogenic Diet: 22-Month Follow-Up. ⁶²	Cannataro R...Cione E	34947933	2021
43	Lipedema Can Be Treated Non-Surgically: A Report of 5 Cases. ⁶²	Amato ACM...Benitti DA	34871293	2021
44	Lipedema and the Potential Role of Estrogen in Excessive Adipose Tissue Accumulation. ⁶²	Katzer K...Foster MT	34769153	2021
45	A randomised controlled multicentre investigator-blinded clinical trial comparing efficacy and safety of surgery versus complex physical decongestive therapy for lipedema (LIPLEG). ⁶²	Podda M...Cornely OA	34717741	2021
46	Ultrasound criteria for lipedema diagnosis. ⁶²	Amato ACM...Benitti DA	33853452	2021
47	Update in the management of lipedema. ⁶²	Forner-Cordero I...Szolnoky G	33870676	2021
48	The association between serum vitamin D and mood disorders in a cohort of lipedema patients. ⁶²	Al-Wardat M...Di Renzo L	34323062	2021
49	JUXTA-ARTICULAR ADIPOSIS DOLOROSA IN LIPEDEMA PATIENTS. ⁶²	Wollina U	34511435	2021
50	A Young Woman with Excessive Fat in Lower Extremities Develops Disordered Eating and Is Subsequently Diagnosed with Anorexia Nervosa, Lipedema, and Hypermobile Ehlers-Danlos Syndrome. ⁶²	Wright TF...Herbst KL	34121088	2021

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Genes for Lipedema

Genes related to Lipedema (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	AKR1C1	Aldo-Keto Reductase Family 1 Member C1	Protein Coding	7.43	GeneCards inferred via : Publications (show sections)
2	IL6	Interleukin 6	Protein Coding	7.43	GeneCards inferred via : Publications (show sections)
3	LEP	Leptin	Protein Coding	7.43	GeneCards inferred via : Publications (show sections)
4	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	7.43	GeneCards inferred via : Publications (show sections)

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Variations for Lipedema

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Expression for Lipedema

Search GEO for disease gene expression data for Lipedema.

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Pathways for Lipedema

Pathways related to Lipedema according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Spinal cord injury ⁷⁴	11.49	LEP IL6
2	Adipogenesis ⁷⁴	11.45	PPARG LEP IL6
3	Clock-controlled autophagy in bone metabolism ⁷⁴	11.31	LEP IL6
4	Prostaglandin synthesis and regulation ⁷⁴ Show member pathways Defective TBXAS1 causes GHDD ⁶⁶ Eicosanoid metabolism via cyclooxygenases (COX) ⁷⁴ Ibuprofen Pathway, Pharmacodynamics ⁶⁰	11.26	PPARG AKR1C1
5	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.11	PPARG LEP IL6
6	Nonalcoholic fatty liver disease ⁷⁴	10.98	LEP IL6
7	Differentiation of white and brown adipocyte ⁷⁴	10.65	PPARG LEP
8	Transcription factor regulation in adipogenesis ⁷⁴	10.14	PPARG LEP IL6

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GO Terms for Lipedema

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

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	9.97	PPARG LEP AKR1C1
2	regulation of blood pressure	GO:0008217	9.88	PPARG LEP
3	positive regulation of tyrosine phosphorylation of STAT protein	GO:0042531	9.85	LEP IL6
4	positive regulation of interleukin-8 production	GO:0032757	9.84	LEP IL6
5	positive regulation of T cell proliferation	GO:0042102	9.83	LEP IL6
6	regulation of insulin secretion	GO:0050796	9.8	LEP IL6
7	response to activity	GO:0014823	9.78	LEP IL6
8	placenta development	GO:0001890	9.76	LEP PPARG
9	cellular response to retinoic acid	GO:0071300	9.73	PPARG LEP
10	regulation of angiogenesis	GO:0045765	9.73	LEP IL6
11	positive regulation of receptor signaling pathway via JAK-STAT	GO:0046427	9.71	LEP IL6
12	response to nutrient	GO:0007584	9.69	PPARG LEP
13	positive regulation of reactive oxygen species metabolic process	GO:2000379	9.67	LEP AKR1C1
14	bile acid metabolic process	GO:0008206	9.56	LEP AKR1C1
15	glucose homeostasis	GO:0042593	9.43	PPARG LEP IL6
16	negative regulation of collagen biosynthetic process	GO:0032966	9.33	PPARG IL6
17	regulation of fat cell differentiation	GO:0045598	9.32	PPARG LEP
18	negative regulation of lipid storage	GO:0010888	9.1	PPARG LEP IL6

Sources

Sources for Lipedema

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: LPD026 MIFTS: 38	Lipedema Categories: Rare diseases	Data Licensing For inquiries, contact: [email protected]
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