EBSOG
MCID: EPD031
MIFTS: 43

Epidermolysis Bullosa Simplex, Ogna Type (EBSOG)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Epidermolysis Bullosa Simplex, Ogna Type

MalaCards integrated aliases for Epidermolysis Bullosa Simplex, Ogna Type:

Name: Epidermolysis Bullosa Simplex, Ogna Type 57 20 72 29 13 6 39 70
Epidermolysis Bullosa Simplex Ogna Type 12 15
Ebs-Og 12 20
Ebsog 57 12
Plec-Related Intermediate Epidermolysis Bullosa Simplex Without Extracutaneous Involvement 58
Plec-Related Intermediate Ebs Without Extracutaneous Involvement 58
Simplex Epidermolysis Bullosa_ogna Type 6
Epidermolysis Bullosa Simplex 1 72
Ebs-O 12
O-Ebs 72
Ebs1 72
Ebso 72

Characteristics:

Orphanet epidemiological data:

58
plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

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


HPO:

31
epidermolysis bullosa simplex, ogna type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060736
OMIM® 57 131950
MeSH 44 D016110
ICD10 32 Q81.0
MESH via Orphanet 45 C535962
ICD10 via Orphanet 33 Q81.0
UMLS via Orphanet 71 C0432317
Orphanet 58 ORPHA79401
MedGen 41 C0432317
UMLS 70 C0432317

Summaries for Epidermolysis Bullosa Simplex, Ogna Type

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79401 Definition Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by sometimes widespread, primarily acral blistering. Epidemiology Prevalence is unknown and EBS-O has been reported in only two families (121 and 3 affected members, respectively) so far. Clinical description Onset is usually at birth. Patients have easy bruisability, hemorrhagic blistering, and marked nail deformity (onychogryphosis). Etiology EBS-O is due to a specific missense mutation in the PLEC gene (8q24) encoding plectin. Genetic counseling Transmission is autosomal dominant. Prognosis Although the disease can be severely disabling, life-expectancy is normal.

MalaCards based summary : Epidermolysis Bullosa Simplex, Ogna Type, also known as epidermolysis bullosa simplex ogna type, is related to folic acid deficiency anemia and viral exanthem. An important gene associated with Epidermolysis Bullosa Simplex, Ogna Type is PLEC (Plectin). Affiliated tissues include eye, bone and heart, and related phenotypes are abnormality of the dentition and palmoplantar keratoderma

Disease Ontology : 12 An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has material basis in heterozygous mutation in the PLEC1 gene on chromosome 8q24.

UniProtKB/Swiss-Prot : 72 Epidermolysis bullosa simplex, Ogna type: A form of intraepidermal epidermolysis bullosa characterized by generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, it is differentiated from classical cases of K-EBS, WC-EBS and DM-EBS, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates.

More information from OMIM: 131950

Related Diseases for Epidermolysis Bullosa Simplex, Ogna Type

Diseases related to Epidermolysis Bullosa Simplex, Ogna Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 folic acid deficiency anemia 10.1 EPO CRP
2 viral exanthem 10.1 EPO CRP
3 miliary tuberculosis 10.0 EPO CRP
4 asphyxia neonatorum 10.0 EPO CRP
5 iritis 10.0 EPO CRP
6 analbuminemia 10.0 EPO CRP
7 encephalomalacia 10.0 EPO CRP
8 autoimmune disease of skin and connective tissue 10.0 PLEC CRP
9 splenic abscess 10.0 CRP ATP12A
10 iron metabolism disease 10.0 EPO CRP
11 iron deficiency anemia 10.0 EPO CRP
12 pulmonary edema 10.0 EPO CRP
13 nutritional deficiency disease 10.0 EPO CRP
14 sleep apnea 9.9 EPO CRP
15 thrombocytosis 9.9 EPO CRP
16 uremia 9.9 EPO CRP
17 bone resorption disease 9.9 CRP ATP12A
18 meckel diverticulum 9.9 CRP ATP4A
19 peptic ulcer disease 9.9 ATP4A ATP12A
20 hemoglobinopathy 9.9 EPO CRP
21 vagus nerve disease 9.9 ATP4A ATP12A
22 scalp dermatosis 9.9 ATP4A ATP12A
23 hemangioma of intra-abdominal structure 9.9 ATP4A ATP12A
24 acquired gastric outlet stenosis 9.9 ATP4A ATP12A
25 lingual goiter 9.9 ATP4A ATP12A
26 displacement of cardia through esophageal hiatus 9.9 ATP4A ATP12A
27 bacterial esophagitis 9.9 ATP4A ATP12A
28 cascade stomach 9.9 ATP4A ATP12A
29 benzylpenicillin allergy 9.9 ATP4A ATP12A
30 afferent loop syndrome 9.9 ATP4A ATP12A
31 cervix erosion 9.9 ATP4A ATP12A
32 angiodysplasia of intestine 9.9 ATP4A ATP12A
33 angiodysplasia 9.9 ATP4A ATP12A
34 granulomatous gastritis 9.9 ATP4A ATP12A
35 laryngeal tuberculosis 9.9 ATP4A ATP12A
36 fungal esophagitis 9.9 ATP4A ATP12A
37 dieulafoy lesion 9.9 ATP4A ATP12A
38 esophagus melanoma 9.9 ATP4A ATP12A
39 cefuroxime allergy 9.9 ATP4A ATP12A
40 gastric gastrinoma 9.9 ATP4A ATP12A
41 pneumatosis cystoides intestinalis 9.9 ATP4A ATP12A
42 chronic laryngitis 9.9 ATP4A ATP12A
43 gastroduodenal crohn's disease 9.9 ATP4A ATP12A
44 polyposis, skin pigmentation, alopecia, and fingernail changes 9.9 ATP4A ATP12A
45 central nervous system origin vertigo 9.9 ATP4A ATP12A
46 rumination disorder 9.9 ATP4A ATP12A
47 acute laryngitis 9.9 ATP4A ATP12A
48 gastroduodenitis 9.9 ATP4A ATP12A
49 barbiturate abuse 9.9 ATP4A ATP12A
50 duodenal gastrinoma 9.9 ATP4A ATP12A

Graphical network of the top 20 diseases related to Epidermolysis Bullosa Simplex, Ogna Type:



Diseases related to Epidermolysis Bullosa Simplex, Ogna Type

Symptoms & Phenotypes for Epidermolysis Bullosa Simplex, Ogna Type

Human phenotypes related to Epidermolysis Bullosa Simplex, Ogna Type:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 58 Occasional (29-5%)
2 palmoplantar keratoderma 58 Frequent (79-30%)
3 abnormality of the eye 58 Excluded (0%)
4 bruising susceptibility 31 HP:0000978
5 hypermelanotic macule 58 Frequent (79-30%)
6 abnormal blistering of the skin 58 Frequent (79-30%)
7 skin erosion 58 Frequent (79-30%)
8 abnormal heart morphology 58 Excluded (0%)
9 onychogryposis of toenails 31 HP:0008401
10 fragile skin 58 Frequent (79-30%)
11 hypoplastic dermoepidermal hemidesmosomes 31 HP:0020117
12 skin fragility with non-scarring blistering 31 HP:0007585
13 palmoplantar blistering 58 Frequent (79-30%)
14 hypopigmented macule 58 Frequent (79-30%)
15 acral blistering 58 Frequent (79-30%)
16 abnormality of the abdominal organs 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
skin fragility with non-scarring blistering
generalized bruising tendency
small hemorrhagic blisters on hands

Skin Nails Hair Nails:
onychogryphosis of large toenails (occasional)

Skin Nails Hair Skin Electron Microscopy:
blisters originating in basal cells above hemidesmosomes
impaired keratin filament insertion into hemidesmosomes
abnormal hemidesmosome intracellular attachment plates

Clinical features from OMIM®:

131950 (Updated 20-May-2021)

Drugs & Therapeutics for Epidermolysis Bullosa Simplex, Ogna Type

Search Clinical Trials , NIH Clinical Center for Epidermolysis Bullosa Simplex, Ogna Type

Genetic Tests for Epidermolysis Bullosa Simplex, Ogna Type

Genetic tests related to Epidermolysis Bullosa Simplex, Ogna Type:

# Genetic test Affiliating Genes
1 Epidermolysis Bullosa Simplex, Ogna Type 29 PLEC

Anatomical Context for Epidermolysis Bullosa Simplex, Ogna Type

MalaCards organs/tissues related to Epidermolysis Bullosa Simplex, Ogna Type:

40
Eye, Bone, Heart, Skin, Cervix

Publications for Epidermolysis Bullosa Simplex, Ogna Type

Articles related to Epidermolysis Bullosa Simplex, Ogna Type:

(show all 11)
# Title Authors PMID Year
1
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. 57 6
11851880 2002
2
Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 6
23289980 2013
3
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex. 6
20665883 2010
4
Plectin gene defects lead to various forms of epidermolysis bullosa simplex. 6
19945614 2010
5
Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. 6
15654962 2005
6
Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 6
10652002 2000
7
Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. 6
8830774 1996
8
Gpt-EBS1 linkage group. General linkage relations. 57
4425507 1974
9
GPT--epidermolysis bullosa simplex (EBS Ogna) linkage in man. 57
4760576 1973
10
Interdisciplinary collaboration between medical and non-medical professions in health and social care. 61
25433356 2014
11
[Two forms of second opinion]. 61
10850093 2000

Variations for Epidermolysis Bullosa Simplex, Ogna Type

ClinVar genetic disease variations for Epidermolysis Bullosa Simplex, Ogna Type:

6 (show top 50) (show all 2073)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEC NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) SNV Pathogenic 8262 rs80338756 GRCh37: 8:144998180-144998180
GRCh38: 8:143924012-143924012
2 PLEC NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) SNV Pathogenic 8262 rs80338756 GRCh37: 8:144998180-144998180
GRCh38: 8:143924012-143924012
3 PLEC NM_201384.3(PLEC):c.7504_7507del (p.Leu2502fs) Deletion Pathogenic 538947 rs1554689309 GRCh37: 8:144996482-144996485
GRCh38: 8:143922314-143922317
4 PLEC NM_201384.3(PLEC):c.8080_8084dup (p.Ser2696fs) Duplication Pathogenic 840189 GRCh37: 8:144995904-144995905
GRCh38: 8:143921736-143921737
5 PLEC NC_000008.10:g.(?_145008783)_(145018851_?)dup Duplication Likely pathogenic 658433 GRCh37: 8:145008783-145018851
GRCh38: 8:143934615-143944683
6 PLEC NM_201384.3(PLEC):c.9000_9001delinsTT (p.Gln3001Ter) Indel Likely pathogenic 499702 rs1554683108 GRCh37: 8:144994988-144994989
GRCh38: 8:143920820-143920821
7 PLEC NM_201384.3(PLEC):c.11350C>T (p.Gln3784Ter) SNV Likely pathogenic 538961 rs1554675388 GRCh37: 8:144992639-144992639
GRCh38: 8:143918471-143918471
8 PLEC NM_201384.3(PLEC):c.3261-1G>A SNV Likely pathogenic 577780 rs111730406 GRCh37: 8:145002161-145002161
GRCh38: 8:143927993-143927993
9 PLEC NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter) SNV Likely pathogenic 417887 rs1060499581 GRCh37: 8:145008595-145008595
GRCh38: 8:143934427-143934427
10 PLEC NM_201384.3(PLEC):c.11926G>A (p.Val3976Ile) SNV Uncertain significance 471525 rs782422260 GRCh37: 8:144992063-144992063
GRCh38: 8:143917895-143917895
11 PLEC NM_201384.3(PLEC):c.7313G>A (p.Arg2438Gln) SNV Uncertain significance 471642 rs781835780 GRCh37: 8:144996784-144996784
GRCh38: 8:143922616-143922616
12 PLEC NM_201384.3(PLEC):c.4682G>A (p.Arg1561Gln) SNV Uncertain significance 289464 rs376840697 GRCh37: 8:144999415-144999415
GRCh38: 8:143925247-143925247
13 PLEC NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) SNV Uncertain significance 196720 rs782581787 GRCh37: 8:144998707-144998707
GRCh38: 8:143924539-143924539
14 PLEC NM_201384.3(PLEC):c.9874G>A (p.Val3292Met) SNV Uncertain significance 471680 rs782650325 GRCh37: 8:144994115-144994115
GRCh38: 8:143919947-143919947
15 PLEC NM_201384.3(PLEC):c.10322C>T (p.Ser3441Leu) SNV Uncertain significance 471514 rs782569204 GRCh37: 8:144993667-144993667
GRCh38: 8:143919499-143919499
16 PLEC NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) SNV Uncertain significance 478626 rs375724891 GRCh37: 8:144993859-144993859
GRCh38: 8:143919691-143919691
17 PLEC NM_201384.3(PLEC):c.1721G>A (p.Arg574Gln) SNV Uncertain significance 471547 rs782426860 GRCh37: 8:145006977-145006977
GRCh38: 8:143932809-143932809
18 PLEC NM_201384.3(PLEC):c.5414G>A (p.Arg1805His) SNV Uncertain significance 283241 rs782438887 GRCh37: 8:144998683-144998683
GRCh38: 8:143924515-143924515
19 PLEC NM_201384.3(PLEC):c.3010G>A (p.Val1004Met) SNV Uncertain significance 282466 rs201782280 GRCh37: 8:145003653-145003653
GRCh38: 8:143929485-143929485
20 PLEC NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln) SNV Uncertain significance 471590 rs782344020 GRCh37: 8:144999598-144999598
GRCh38: 8:143925430-143925430
21 PLEC NM_201384.3(PLEC):c.13525A>G (p.Thr4509Ala) SNV Uncertain significance 471545 rs1554668550 GRCh37: 8:144990464-144990464
GRCh38: 8:143916296-143916296
22 PLEC NM_201384.3(PLEC):c.12907G>A (p.Val4303Met) SNV Uncertain significance 478589 rs200668859 GRCh37: 8:144991082-144991082
GRCh38: 8:143916914-143916914
23 PLEC NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) SNV Uncertain significance 196847 rs368212208 GRCh37: 8:144991318-144991318
GRCh38: 8:143917150-143917150
24 PLEC NM_201384.3(PLEC):c.1685A>G (p.His562Arg) SNV Uncertain significance 548530 rs1554718277 GRCh37: 8:145007013-145007013
GRCh38: 8:143932845-143932845
25 PLEC NM_201384.3(PLEC):c.12401C>T (p.Ser4134Phe) SNV Uncertain significance 471530 rs782074353 GRCh37: 8:144991588-144991588
GRCh38: 8:143917420-143917420
26 PLEC NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) SNV Uncertain significance 471559 rs199833127 GRCh37: 8:145004139-145004139
GRCh38: 8:143929971-143929971
27 PLEC NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys) SNV Uncertain significance 282493 rs782026068 GRCh37: 8:144999242-144999242
GRCh38: 8:143925074-143925074
28 PLEC NM_201384.3(PLEC):c.4771C>G (p.Gln1591Glu) SNV Uncertain significance 471595 rs782016001 GRCh37: 8:144999326-144999326
GRCh38: 8:143925158-143925158
29 PLEC NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys) SNV Uncertain significance 471671 rs201455467 GRCh37: 8:144994742-144994742
GRCh38: 8:143920574-143920574
30 PLEC NM_201384.3(PLEC):c.12406G>C (p.Val4136Leu) SNV Uncertain significance 478627 rs749212061 GRCh37: 8:144991583-144991583
GRCh38: 8:143917415-143917415
31 PLEC NM_201384.3(PLEC):c.8062G>A (p.Val2688Met) SNV Uncertain significance 471656 rs562229143 GRCh37: 8:144995927-144995927
GRCh38: 8:143921759-143921759
32 PLEC NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) Indel Uncertain significance 281942 rs886044784 GRCh37: 8:144997783-144997784
GRCh38: 8:143923615-143923616
33 PLEC NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met) SNV Uncertain significance 282308 rs368122904 GRCh37: 8:144995188-144995188
GRCh38: 8:143921020-143921020
34 PLEC NM_201384.3(PLEC):c.5850C>T (p.Arg1950=) SNV Uncertain significance 471616 rs782025214 GRCh37: 8:144998247-144998247
GRCh38: 8:143924079-143924079
35 PLEC NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) SNV Uncertain significance 471637 rs200618217 GRCh37: 8:144997256-144997256
GRCh38: 8:143923088-143923088
36 PLEC NM_201384.3(PLEC):c.8371G>A (p.Ala2791Thr) SNV Uncertain significance 471661 rs529109624 GRCh37: 8:144995618-144995618
GRCh38: 8:143921450-143921450
37 PLEC NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) SNV Uncertain significance 196762 rs782666455 GRCh37: 8:144999571-144999571
GRCh38: 8:143925403-143925403
38 PLEC NM_201384.3(PLEC):c.1471C>T (p.Arg491Trp) SNV Uncertain significance 478630 rs201001882 GRCh37: 8:145007227-145007227
GRCh38: 8:143933059-143933059
39 PLEC NM_201384.3(PLEC):c.2236C>T (p.Arg746Cys) SNV Uncertain significance 478592 rs782156696 GRCh37: 8:145005770-145005770
GRCh38: 8:143931602-143931602
40 PLEC NM_201384.3(PLEC):c.9529G>A (p.Asp3177Asn) SNV Uncertain significance 285079 rs151050583 GRCh37: 8:144994460-144994460
GRCh38: 8:143920292-143920292
41 PLEC NM_201384.3(PLEC):c.11137G>A (p.Gly3713Arg) SNV Uncertain significance 282185 rs202037264 GRCh37: 8:144992852-144992852
GRCh38: 8:143918684-143918684
42 PLEC NM_201384.3(PLEC):c.3485G>A (p.Arg1162Gln) SNV Uncertain significance 284248 rs368280705 GRCh37: 8:145001849-145001849
GRCh38: 8:143927681-143927681
43 PLEC NM_201384.3(PLEC):c.10007C>T (p.Thr3336Met) SNV Uncertain significance 471511 rs199950917 GRCh37: 8:144993982-144993982
GRCh38: 8:143919814-143919814
44 PLEC NM_201384.3(PLEC):c.2743C>T (p.Arg915Cys) SNV Uncertain significance 471561 rs376236283 GRCh37: 8:145003994-145003994
GRCh38: 8:143929826-143929826
45 PLEC NM_201384.3(PLEC):c.6770G>A (p.Arg2257His) SNV Uncertain significance 471635 rs376311731 GRCh37: 8:144997327-144997327
GRCh38: 8:143923159-143923159
46 PLEC NM_201384.3(PLEC):c.11222G>A (p.Arg3741Gln) SNV Uncertain significance 471521 rs373215657 GRCh37: 8:144992767-144992767
GRCh38: 8:143918599-143918599
47 PLEC NM_201384.3(PLEC):c.5498G>A (p.Arg1833Gln) SNV Uncertain significance 471607 rs369277699 GRCh37: 8:144998599-144998599
GRCh38: 8:143924431-143924431
48 PLEC NM_201384.3(PLEC):c.682C>T (p.Arg228Trp) SNV Uncertain significance 451958 rs200249446 GRCh37: 8:145009402-145009402
GRCh38: 8:143935234-143935234
49 PLEC NM_201384.3(PLEC):c.3356C>T (p.Pro1119Leu) SNV Uncertain significance 471574 rs782567448 GRCh37: 8:145002065-145002065
GRCh38: 8:143927897-143927897
50 PLEC NM_201384.3(PLEC):c.4997AGG[2] (p.Glu1668del) Microsatellite Uncertain significance 471598 rs782362153 GRCh37: 8:144999092-144999094
GRCh38: 8:143924924-143924926

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa Simplex, Ogna Type:

72
# Symbol AA change Variation ID SNP ID
1 PLEC p.Arg2110Trp VAR_015817 rs80338756

Expression for Epidermolysis Bullosa Simplex, Ogna Type

Search GEO for disease gene expression data for Epidermolysis Bullosa Simplex, Ogna Type.

Pathways for Epidermolysis Bullosa Simplex, Ogna Type

GO Terms for Epidermolysis Bullosa Simplex, Ogna Type

Biological processes related to Epidermolysis Bullosa Simplex, Ogna Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.4 ATP4A ATP12A
2 potassium ion import across plasma membrane GO:1990573 9.37 ATP4A ATP12A
3 acute-phase response GO:0006953 9.32 EPO CRP
4 cellular sodium ion homeostasis GO:0006883 9.26 ATP4A ATP12A
5 sodium ion export across plasma membrane GO:0036376 9.16 ATP4A ATP12A
6 cellular potassium ion homeostasis GO:0030007 8.96 ATP4A ATP12A
7 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 8.62 ATP4A ATP12A

Molecular functions related to Epidermolysis Bullosa Simplex, Ogna Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP4A ATP12A
2 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Epidermolysis Bullosa Simplex, Ogna Type

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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