GVM
MCID: GLM012
MIFTS: 38

Glomuvenous Malformations (GVM)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glomuvenous Malformations

MalaCards integrated aliases for Glomuvenous Malformations:

Name: Glomuvenous Malformations 57 72 29 13 6 70
Venous Malformations with Glomus Cells 57 58
Glomus Tumors, Multiple 57 54
Glomangiomatosis 58 70
Vmglom 57 58
Venous Malformations with Glomus Cells; Vmglom 57
Hereditary Multiple Glomangiomas 58
Malformations, Glomuvenous 39
Glomuvenous Malformation 58
Glomangiomas, Multiple 57
Multiple Glomus Tumors 58
Gvms 72
Gvm 57

Characteristics:

Orphanet epidemiological data:

58
glomuvenous malformation
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
glomuvenous malformations:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 138000
MESH via Orphanet 45 C536827
ICD10 via Orphanet 33 Q27.8
UMLS via Orphanet 71 C1841984
Orphanet 58 ORPHA83454
MedGen 41 C1841984
UMLS 70 C1333824 C1841984

Summaries for Glomuvenous Malformations

OMIM® : 57 Glomuvenous malformations, also known as 'venous malformations with glomus cells' or glomangiomas, are similar to mucocutaneous venous malformations (VMCM; 600195), but clinically are distinguishable: they have a cobble-stone appearance, have a consistency harder than that of venous malformations, and are painful on palpation. Histologically, GVMs are distinguishable by the presence of pathognomonic rounded cells (glomus cells) around the distended vein-like channels. The term glomus (Latin for ball) stems from the morphologically similar contractile cells of the Sucquet-Hoyer arteriovenous anastomoses in glomus bodies that are involved in cutaneous thermoregulation. Glomus cells in GVMs appear to be incompletely or improperly differentiated vascular smooth muscle cells, since they stain positively with smooth muscle cell alpha-actin (102620) and vimentin (193060) (summary by Brouillard et al., 2002). The genetic distinctness of glomuvenous malformations from mucocutaneous venous malformations is indicated by the fact that mutations have been found in the TIE2/TEK gene (600221) in mucocutaneous venous malformations and not in glomuvenous malformations. (138000) (Updated 20-May-2021)

MalaCards based summary : Glomuvenous Malformations, also known as venous malformations with glomus cells, is related to venous malformations, multiple cutaneous and mucosal and glomus tumor. An important gene associated with Glomuvenous Malformations is GLMN (Glomulin, FKBP Associated Protein). Affiliated tissues include smooth muscle, trachea and heart, and related phenotypes are venous malformation and skin nodule

UniProtKB/Swiss-Prot : 72 Glomuvenous malformations: Characterized by the presence of smooth-muscle-like glomus cells in the media surrounding distended vascular lumens.

Related Diseases for Glomuvenous Malformations

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 venous malformations, multiple cutaneous and mucosal 31.4 KRIT1 GLMN
2 glomus tumor 10.1
3 blue rubber bleb nevus 10.1
4 glomangioma 10.1
5 glomangiomatosis 10.1
6 paragangliomas 1 10.1
7 angiomatosis 10.1
8 distichiasis 10.0
9 lymphedema-distichiasis syndrome 10.0
10 vesicoureteral reflux 1 10.0
11 wilms tumor 1 10.0
12 alopecia, congenital 10.0
13 capillary malformation-arteriovenous malformation 1 10.0
14 hereditary lymphedema i 10.0
15 microcephaly 10.0
16 arteriovenous malformation 10.0
17 allergic disease 10.0
18 familial glomangioma 10.0
19 alopecia 10.0
20 lipoblastoma 10.0
21 familial cold autoinflammatory syndrome 1 10.0
22 ascites, chylous 10.0
23 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.0
24 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 10.0
25 vascular cancer 10.0
26 hemangioma 10.0
27 macrodactyly 10.0
28 phacomatosis pigmentovascularis 10.0
29 spitz nevus 10.0
30 overgrowth syndrome 10.0
31 myeloma, multiple 10.0
32 adrenal gland pheochromocytoma 10.0
33 connective tissue benign neoplasm 10.0
34 purpura 10.0
35 mesenchymal cell neoplasm 10.0
36 glomangiosarcoma 10.0
37 pulmonary coin lesion 10.0
38 gardner-diamond syndrome 10.0
39 pheochromocytoma 10.0
40 lentigines 10.0
41 lentigo maligna melanoma 10.0
42 rare tumor 10.0
43 leptin deficiency or dysfunction 9.9
44 pulmonary hypertension 9.9
45 neurofibromatosis 9.9
46 klippel-trenaunay-weber syndrome 9.7 KRIT1 GLMN
47 benign perivascular tumor 9.6 SMTN GLMN
48 cerebral cavernous malformations 9.6 SMTN KRIT1
49 vascular disease 9.6 KRIT1 GLMN

Graphical network of the top 20 diseases related to Glomuvenous Malformations:



Diseases related to Glomuvenous Malformations

Symptoms & Phenotypes for Glomuvenous Malformations

Human phenotypes related to Glomuvenous Malformations:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 venous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012721
2 skin nodule 58 31 frequent (33%) Frequent (79-30%) HP:0200036
3 abnormal digit morphology 58 31 frequent (33%) Frequent (79-30%) HP:0011297
4 generalized abnormality of skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0011354
5 abnormality of the upper limb 58 31 occasional (7.5%) Occasional (29-5%) HP:0002817
6 papule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200034
7 abnormality of the lower limb 58 31 occasional (7.5%) Occasional (29-5%) HP:0002814
8 skin plaque 58 31 occasional (7.5%) Occasional (29-5%) HP:0200035
9 abnormal renal morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0012210
10 abnormality of the mediastinum 58 31 very rare (1%) Very rare (<4-1%) HP:0045026
11 abnormal trachea morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0002778
12 gastrointestinal arteriovenous malformation 58 31 very rare (1%) Very rare (<4-1%) HP:0002629
13 abnormality of the nasal cavity 58 31 very rare (1%) Very rare (<4-1%) HP:0010640
14 oral mucosa nodule 58 31 very rare (1%) Very rare (<4-1%) HP:0031445
15 arteriovenous malformation 58 Very frequent (99-80%)
16 abnormality of metabolism/homeostasis 31 HP:0001939
17 abnormality of the skin 31 HP:0000951
18 localized skin lesion 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
multiple glomus tumors

Lab:
multiple layers of glomus cells lining blood-filled cavities

Clinical features from OMIM®:

138000 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Glomuvenous Malformations:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 GLMN KRIT1 SMTN

Drugs & Therapeutics for Glomuvenous Malformations

Search Clinical Trials , NIH Clinical Center for Glomuvenous Malformations

Genetic Tests for Glomuvenous Malformations

Genetic tests related to Glomuvenous Malformations:

# Genetic test Affiliating Genes
1 Glomuvenous Malformations 29 GLMN

Anatomical Context for Glomuvenous Malformations

MalaCards organs/tissues related to Glomuvenous Malformations:

40
Smooth Muscle, Trachea, Heart, Adrenal Gland, Tongue, Skin

Publications for Glomuvenous Malformations

Articles related to Glomuvenous Malformations:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). 54 6 57 61
11845407 2002
2
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. 57 6 61
23375657 2013
3
Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC. 61 6 57
11175297 2001
4
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. 6 61 54
15689436 2005
5
Genotypes and phenotypes of 162 families with a glomulin mutation. 61 6
23801931 2013
6
High-resolution physical and transcript map of the locus for venous malformations with glomus cells (VMGLOM) on chromosome 1p21-p22. 61 57
10945476 2000
7
A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22. 57 61
10364524 1999
8
Germ-line mutations in nonsyndromic pheochromocytoma. 57
12226162 2002
9
Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity. 57
11173970 2001
10
Type 2 segmental manifestation of multiple glomus tumors: A review and reclassification of 5 case reports. 57
10393451 1999
11
Hereditary multiple glomangiomas. 57
9577316 1998
12
A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. 57
9420534 1997
13
Hereditary multiple glomus tumours. 57
3017240 1986
14
[Pathology and clinical aspect of multiple familial glomus tumors]. 57
4331901 1970
15
[Genetic aspects in dermatology]. 57
4333915 1970
16
[Familial glomus tumors: 6 cases in 4 generations]. 57
13878383 1961
17
Multiple glomus tumor of the pseudocavernous hemangioma type; report of case manifesting a dominant inheritance pattern. 57
13707266 1960
18
Type 2 segmental glomangiomas. 61 54
20137750 2010
19
[Pathogenesis and genetics of vascular anomalies]. 54 61
16997448 2006
20
Update on the molecular genetics of vascular anomalies. 54 61
16379592 2005
21
Glomuvenous Malformation of the Neck. 61
33268980 2020
22
Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations. 61
32538359 2020
23
[Glomuvenous malformations]. 61
31036144 2019
24
Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations. 61
30460983 2019
25
[Glomuvenous malformations can be very painful and cause diagnostic challenges]. 61
30729920 2019
26
FKBP51 and FKBP12.6-Novel and tight interactors of Glomulin. 61
31490997 2019
27
Multiple Bluish Nodules in a 20-Year-Old Female with Similar Lesions in Her Father. 61
31827943 2019
28
Glomuvenous malformations: dual PDL-Nd:YAG laser approach. 61
29594737 2018
29
Glomulin mutation and glomuvenous malformations: two case reports with the same mutation but different phenotypes. 61
30325312 2018
30
Glomuvenous malformations in a young man. 61
30677819 2018
31
Color Doppler Ultrasound Study of Glomuvenous Malformations with its Clinical and Histologic Correlations. 61
28683898 2018
32
Glomuvenous Malformation: A Rare Periorbital Lesion of the Thermoregulatory Apparatus. 61
27065433 2017
33
Multiple, neonatal, self-healing, cutaneous glomuvenous malformations. 61
28164891 2017
34
Smoothelin and WT-1 expression in glomus tumors and glomuvenous malformations. 61
27184662 2017
35
Familial Disseminated Cutaneous Glomuvenous Malformation: Treatment with Polidocanol Sclerotherapy. 61
28163461 2016
36
Laser Therapy for an Acquired Glomuvenous Malformation (Glomus Tumour): A Nonsurgical Approach. 61
26177926 2016
37
Plaque-type glomuvenous malformations in a child. 61
26211830 2015
38
[Glomuvenous malformations]. 61
26201945 2015
39
Long-Pulsed Neodymium-Doped Yttrium Aluminum Garnet Laser for Glomuvenous Malformations in Adolescents. 61
26138991 2015
40
Loss of heterozygosity in a case of glomuvenous malformations. 61
25809388 2015
41
Incomplete penetrance of GLMN gene c.395-1G>C mutation in a family with glomuvenous malformations. 61
24961656 2014
42
Shigella IpaH7.8 E3 ubiquitin ligase targets glomulin and activates inflammasomes to demolish macrophages. 61
25246571 2014
43
Glomuvenous malformations with smooth muscle and eccrine glands: unusual histopathologic features in a familial setting. 61
24345188 2014
44
Plaque-type glomuvenous malformations successfully treated using combined pulsed dye laser and neodymium-doped yttrium aluminum garnet laser. 61
24238065 2014
45
A case of congenital plaque-type glomuvenous malformations. 61
23691933 2013
46
Multiple glomuvenous malformations presenting in a child: follow-up over a period of 8 years. 61
23853196 2013
47
Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. 61
22407726 2012
48
Multiple disseminated glomuvenous malformations: do we know enough? 61
23303036 2012
49
Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations. 61
21822948 2011
50
A novel mutation of the glomulin gene in an Italian family with autosomal dominant cutaneous glomuvenous malformations. 61
22092580 2011

Variations for Glomuvenous Malformations

ClinVar genetic disease variations for Glomuvenous Malformations:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLMN GLMN, 5-BP DEL, 980CAGAA Deletion Pathogenic 7805 GRCh37:
GRCh38:
2 GLMN NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) Deletion Pathogenic 7807 rs773442562 GRCh37: 1:92732009-92732011
GRCh38: 1:92266452-92266454
3 GLMN NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) Deletion Pathogenic 7806 rs762515373 GRCh37: 1:92762965-92762969
GRCh38: 1:92297408-92297412
4 GLMN NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) SNV Pathogenic 523551 rs770780171 GRCh37: 1:92763018-92763018
GRCh38: 1:92297461-92297461
5 GLMN NM_053274.3(GLMN):c.805del (p.Trp269fs) Deletion Pathogenic 998272 GRCh37: 1:92737140-92737140
GRCh38: 1:92271583-92271583
6 GLMN NM_053274.3(GLMN):c.844_847del (p.Leu282fs) Deletion Pathogenic 930408 GRCh37: 1:92737098-92737101
GRCh38: 1:92271541-92271544
7 GLMN NM_053274.2(GLMN):c.736-2886_1214+254delinsGG Indel Pathogenic 7804 GRCh37: 1:92731722-92740095
GRCh38: 1:92266165-92274538
8 GLMN NM_053274.3(GLMN):c.554_558delinsG (p.Lys185fs) Indel Likely pathogenic 667406 rs1570964992 GRCh37: 1:92754545-92754549
GRCh38: 1:92288988-92288992
9 GLMN NM_053274.3(GLMN):c.1355del (p.Leu452fs) Deletion Likely pathogenic 667407 rs773435694 GRCh37: 1:92729234-92729234
GRCh38: 1:92263677-92263677
10 GLMN NM_053274.3(GLMN):c.743T>A (p.Leu248Ter) SNV Likely pathogenic 915841 GRCh37: 1:92737202-92737202
GRCh38: 1:92271645-92271645
11 GLMN NM_053274.3(GLMN):c.394+1G>A SNV Likely pathogenic 559861 rs1258933474 GRCh37: 1:92755754-92755754
GRCh38: 1:92290197-92290197
12 GLMN NM_053274.3(GLMN):c.1083del (p.Thr363fs) Deletion Likely pathogenic 801500 rs1570898051 GRCh37: 1:92733485-92733485
GRCh38: 1:92267928-92267928
13 GLMN NM_053274.3(GLMN):c.40-19dup Duplication Uncertain significance 298150 rs372630078 GRCh37: 1:92763091-92763092
GRCh38: 1:92297534-92297535
14 GLMN NM_053274.3(GLMN):c.-46G>C SNV Uncertain significance 876542 GRCh37: 1:92764497-92764497
GRCh38: 1:92298940-92298940
15 GLMN NM_053274.3(GLMN):c.1474-7T>C SNV Uncertain significance 876495 GRCh37: 1:92713553-92713553
GRCh38: 1:92247996-92247996
16 GLMN NM_053274.3(GLMN):c.1224G>A (p.Leu408=) SNV Uncertain significance 873603 GRCh37: 1:92730186-92730186
GRCh38: 1:92264629-92264629
17 GLMN NM_053274.3(GLMN):c.1154T>C (p.Leu385Ser) SNV Uncertain significance 873604 GRCh37: 1:92732036-92732036
GRCh38: 1:92266479-92266479
18 GLMN NM_053274.3(GLMN):c.1093C>T (p.Pro365Ser) SNV Uncertain significance 873605 GRCh37: 1:92733475-92733475
GRCh38: 1:92267918-92267918
19 GLMN NM_053274.3(GLMN):c.437C>T (p.Ala146Val) SNV Uncertain significance 298145 rs756248885 GRCh37: 1:92754666-92754666
GRCh38: 1:92289109-92289109
20 GLMN NM_053274.3(GLMN):c.-85G>T SNV Uncertain significance 298154 rs886046549 GRCh37: 1:92764536-92764536
GRCh38: 1:92298979-92298979
21 GLMN NM_053274.3(GLMN):c.*92T>G SNV Uncertain significance 298126 rs534277037 GRCh37: 1:92711995-92711995
GRCh38: 1:92246438-92246438
22 GLMN NM_053274.3(GLMN):c.526T>C (p.Cys176Arg) SNV Uncertain significance 298143 rs886046547 GRCh37: 1:92754577-92754577
GRCh38: 1:92289020-92289020
23 GLMN NM_053274.3(GLMN):c.-44G>A SNV Uncertain significance 298152 rs886046548 GRCh37: 1:92764495-92764495
GRCh38: 1:92298938-92298938
24 GLMN NM_053274.3(GLMN):c.1145_1148dup (p.Ser384fs) Duplication Uncertain significance 632117 rs1379272170 GRCh37: 1:92732041-92732042
GRCh38: 1:92266484-92266485
25 GLMN NM_053274.3(GLMN):c.1410-19AT[2] Microsatellite Likely benign 298129 rs555041177 GRCh37: 1:92728497-92728498
GRCh38: 1:92262940-92262941
26 GLMN NM_053274.3(GLMN):c.978-4T>C SNV Likely benign 298135 rs750401776 GRCh37: 1:92733696-92733696
GRCh38: 1:92268139-92268139
27 GLMN NM_053274.2(GLMN):c.*143G>A SNV Likely benign 368880 rs41301245 GRCh37: 1:92711944-92711944
GRCh38: 1:92246387-92246387
28 GLMN NM_053274.3(GLMN):c.1474-15_1474-12del Deletion Likely benign 298128 rs535813981 GRCh37: 1:92713558-92713561
GRCh38: 1:92248001-92248004
29 GLMN NM_053274.3(GLMN):c.1635G>A (p.Glu545=) SNV Likely benign 298127 rs376960198 GRCh37: 1:92712652-92712652
GRCh38: 1:92247095-92247095
30 GLMN NM_053274.3(GLMN):c.1215-9G>T SNV Likely benign 298130 rs774161019 GRCh37: 1:92730204-92730204
GRCh38: 1:92264647-92264647
31 GLMN NM_053274.3(GLMN):c.1318T>C (p.Trp440Arg) SNV Likely benign 876496 GRCh37: 1:92729271-92729271
GRCh38: 1:92263714-92263714
32 GLMN NM_053274.3(GLMN):c.1306C>T (p.Arg436Cys) SNV Benign 876497 GRCh37: 1:92729283-92729283
GRCh38: 1:92263726-92263726
33 GLMN NM_053274.3(GLMN):c.58G>A (p.Asp20Asn) SNV Benign 876541 GRCh37: 1:92763068-92763068
GRCh38: 1:92297511-92297511
34 GLMN NM_053274.3(GLMN):c.1007T>C (p.Leu336Ser) SNV Benign 298134 rs35258161 GRCh37: 1:92733663-92733663
GRCh38: 1:92268106-92268106
35 GLMN NM_053274.3(GLMN):c.977+7T>A SNV Benign 298137 rs61758979 GRCh37: 1:92735273-92735273
GRCh38: 1:92269716-92269716
36 GLMN NM_053274.3(GLMN):c.-54T>G SNV Benign 298153 rs145401012 GRCh37: 1:92764505-92764505
GRCh38: 1:92298948-92298948
37 GLMN NM_053274.3(GLMN):c.765C>T (p.Phe255=) SNV Benign 298139 rs149618929 GRCh37: 1:92737180-92737180
GRCh38: 1:92271623-92271623
38 GLMN NM_053274.3(GLMN):c.977+9G>A SNV Benign 298136 rs142642620 GRCh37: 1:92735271-92735271
GRCh38: 1:92269714-92269714
39 GLMN NM_053274.3(GLMN):c.1022A>G (p.Asn341Ser) SNV Benign 298133 rs147889200 GRCh37: 1:92733546-92733546
GRCh38: 1:92267989-92267989
40 GLMN NM_053274.3(GLMN):c.856A>G (p.Met286Val) SNV Benign 874606 GRCh37: 1:92737089-92737089
GRCh38: 1:92271532-92271532
41 GLMN NM_053274.3(GLMN):c.1482A>T (p.Leu494Phe) SNV Benign 876494 GRCh37: 1:92713538-92713538
GRCh38: 1:92247981-92247981
42 GLMN NM_053274.3(GLMN):c.*115G>C SNV Benign 298125 rs2046620 GRCh37: 1:92711972-92711972
GRCh38: 1:92246415-92246415
43 GLMN NM_053274.3(GLMN):c.542T>C (p.Ile181Thr) SNV Benign 298142 rs139873200 GRCh37: 1:92754561-92754561
GRCh38: 1:92289004-92289004
44 GLMN NM_053274.3(GLMN):c.165+10A>G SNV Benign 298148 rs201467961 GRCh37: 1:92762951-92762951
GRCh38: 1:92297394-92297394
45 GLMN NM_053274.3(GLMN):c.-34G>A SNV Benign 298151 rs556956035 GRCh37: 1:92764485-92764485
GRCh38: 1:92298928-92298928
46 GLMN NM_053274.3(GLMN):c.899T>C (p.Ile300Thr) SNV Benign 298138 rs34062020 GRCh37: 1:92737046-92737046
GRCh38: 1:92271489-92271489
47 GLMN NM_053274.3(GLMN):c.581A>G (p.Asn194Ser) SNV Benign 298141 rs532530906 GRCh37: 1:92754522-92754522
GRCh38: 1:92288965-92288965
48 GLMN NM_053274.3(GLMN):c.519T>C (p.Leu173=) SNV Benign 298144 rs146069171 GRCh37: 1:92754584-92754584
GRCh38: 1:92289027-92289027
49 GLMN NM_053274.3(GLMN):c.1057T>C (p.Tyr353His) SNV Benign 298132 rs149792649 GRCh37: 1:92733511-92733511
GRCh38: 1:92267954-92267954
50 GLMN NM_053274.3(GLMN):c.144T>G (p.Ile48Met) SNV Benign 298149 rs142032681 GRCh37: 1:92762982-92762982
GRCh38: 1:92297425-92297425

Expression for Glomuvenous Malformations

Search GEO for disease gene expression data for Glomuvenous Malformations.

Pathways for Glomuvenous Malformations

GO Terms for Glomuvenous Malformations

Sources for Glomuvenous Malformations

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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