LI1
MCID: ICH014
MIFTS: 30

Ichthyosis Lamellar 1 (LI1)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Ichthyosis Lamellar 1

MalaCards integrated aliases for Ichthyosis Lamellar 1:

Name: Ichthyosis Lamellar 1 20
Lamellar Ichthyosis, Type 1 20 6
Collodion Fetus 20 70
Lamellar Exfoliation of Newborn 20
Desquamation of Newborn 20
Congenital Ichthyosis 70
Ichthyosis Congenita 20
Li1 20

Classifications:



External Ids:

UMLS 70 C0020758 C3543867

Summaries for Ichthyosis Lamellar 1

MalaCards based summary : Ichthyosis Lamellar 1, also known as lamellar ichthyosis, type 1, is related to ichthyosis, congenital, autosomal recessive 4b and ichthyosis, congenital, autosomal recessive 1, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis Lamellar 1 is TGM1 (Transglutaminase 1). The drugs Protective Agents and Monolaurin have been mentioned in the context of this disorder. Affiliated tissues include Epidermis.

Related Diseases for Ichthyosis Lamellar 1

Diseases in the Ichthyosis, Lamellar, Autosomal Dominant family:

Ichthyosis Lamellar 1 Ichthyosis Lamellar 3

Diseases related to Ichthyosis Lamellar 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, congenital, autosomal recessive 4b 31.5 TGM1 SULT2B1
2 ichthyosis, congenital, autosomal recessive 1 31.1 TGM1 SULT2B1 LOC107882126
3 ichthyosis 30.5 TGM1 SULT2B1
4 autosomal recessive congenital ichthyosis 28.8 TGM1 SULT2B1 LOC107882126
5 keratosis linearis with ichthyosis congenita and sclerosing keratoderma 11.7
6 ichthyosis, congenital, autosomal recessive 4a 11.4
7 ichthyosis prematurity syndrome 11.3
8 ichthyosis congenita with biliary atresia 11.3
9 ichthyosis, congenital, autosomal recessive 5 11.2
10 ichthyosis lamellar 3 11.1
11 ruzicka goerz anton syndrome 11.1
12 keratosis 10.3
13 rapidly involuting congenital hemangioma 10.2
14 ectropion 10.0
15 palmoplantar keratosis 10.0
16 dermatitis 10.0
17 epidermolytic hyperkeratosis 9.9
18 chondrodysplasia punctata syndrome 9.9
19 ataxia and polyneuropathy, adult-onset 9.9
20 branchiootic syndrome 1 9.9
21 brachydactyly 9.9
22 autosomal recessive disease 9.9
23 recessive dystrophic epidermolysis bullosa 9.9
24 spastic diplegia 9.9
25 biliary atresia 9.9
26 keratopathy 9.9
27 rhizomelic chondrodysplasia punctata 9.9
28 epidermolysis bullosa 9.9
29 mastocytosis 9.9
30 skin disease 9.9
31 epidermolysis bullosa dystrophica 9.9
32 conjunctivitis 9.9
33 cataract 9.9
34 chickenpox 9.9
35 erythrokeratoderma ''en cocardes'' 9.9
36 lymphangiectasis 9.9
37 pseudoainhum 9.9
38 congenital ectropion 9.9
39 thyroid carcinoma 9.9
40 self-improving collodion baby 9.4 TGM1 SULT2B1

Graphical network of the top 20 diseases related to Ichthyosis Lamellar 1:



Diseases related to Ichthyosis Lamellar 1

Symptoms & Phenotypes for Ichthyosis Lamellar 1

UMLS symptoms related to Ichthyosis Lamellar 1:


trichorrhexis invaginata

Drugs & Therapeutics for Ichthyosis Lamellar 1

Drugs for Ichthyosis Lamellar 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protective Agents Phase 3
2 Monolaurin Phase 3
3
Isotretinoin Approved Phase 2 4759-48-2 5282379 5538
4 Dermatologic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 TREATMENT OF THE RECESSIVE NONBULLOUS CONGENITAL ICHTHYOSIS BY THE EPIGALLOCATECHINE CUTANEOUS Unknown status NCT01222000 Phase 3 apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side;apply VEREGEN ® 10 % on a randomized area and the moisturizing cream of the other side
2 Phase III Study of Monolaurin Cream Therapy for Patients With Congenital Ichthyosis Completed NCT00004690 Phase 3 monolaurin cream
3 A Randomized, Bilateral Comparison, Vehicle-Controlled, Safety and Tolerability Study of Topical PAT-001 for the Treatment of Congenital Ichthyosis Completed NCT02864082 Phase 2 PAT-001, 0.1%;PAT-001, 0.2%;Vehicle
4 A Phase I/II Clinical Trial of Topical KB105, a Replication-incompetent, Non-integrating HSV-1 Vector Expressing Human Transglutaminase 1 (TGM1) for the Treatment of TGM1-deficient Autosomal Recessive Congenital Ichthyosis (ARCI) Recruiting NCT04047732 Phase 1, Phase 2
5 A Randomized, Parallel, Double-Blind, Vehicle Controlled Study to Evaluate the Safety and Efficacy of Two Concentrations of Topical TMB-001 for the Treatment of Congenital Ichthyosis Recruiting NCT04154293 Phase 2 Isotretinoin
6 Prospective Evaluation of Infants and Children With Congenital Ichthyosis Terminated NCT02655861

Search NIH Clinical Center for Ichthyosis Lamellar 1

Genetic Tests for Ichthyosis Lamellar 1

Anatomical Context for Ichthyosis Lamellar 1

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Ichthyosis Lamellar 1:
# Tissue Anatomical CompartmentCell Relevance
1 Epidermis Stratified Epidermis Corneocytes Affected by disease
2 Epidermis Stratified Epidermis Granular Keratinocytes Affected by disease
3 Epidermis Stratified Epidermis Spinous Keratinocytes Affected by disease

Publications for Ichthyosis Lamellar 1

Articles related to Ichthyosis Lamellar 1:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. 6
28575648 2017
2
Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis. 6
28403434 2017
3
Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients. 6
27025581 2016
4
Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy. 6
26620441 2016
5
Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis. 6
26220141 2016
6
Autosomal recessive congenital ichthyoses in the Czech Republic. 6
25998749 2016
7
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis. 6
26762237 2016
8
Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency. 6
27442430 2016
9
Prenatal Screening for Bathing-suit Ichthyosis After Diagnosis in an Older Sibling. 6
26076875 2015
10
Mutation study for 9 genes in 23 unrelated patients with autosomal recessive congenital ichthyosis in Japan and Malaysia. 6
25766764 2015
11
Mutations of transglutaminase-1 in Chinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of Chinese cases reported in literature. 6
25154629 2015
12
Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis. 6
26594337 2015
13
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
14
Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby. 6
24419105 2014
15
A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion. 6
24314425 2013
16
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population. 6
23621129 2013
17
Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe. 6
23895935 2013
18
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. 6
23278109 2013
19
Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene. 6
23192619 2013
20
Targeted sequence capture and high-throughput sequencing in the molecular diagnosis of ichthyosis and other skin diseases. 6
22992804 2013
21
Transglutaminase-1 mutations in Omani families with lamellar ichthyosis. 6
23689228 2013
22
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis. 6
23096117 2012
23
Specific TGM1 mutation profiles in bathing suit and self-improving collodion ichthyoses: phenotypic and genotypic data from 9 patients with dynamic phenotypes of autosomal recessive congenital ichthyosis. 6
22801880 2012
24
Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies. 6
22437313 2012
25
Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case. 6
21895619 2012
26
Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice. 6
22258055 2012
27
[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby]. 6
22311480 2012
28
Multiple local and recent founder effects of TGM1 in Spanish families. 6
22511925 2012
29
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. 6
21668430 2011
30
Type I transglutaminase accumulation in the endoplasmic reticulum may be an underlying cause of autosomal recessive congenital ichthyosis. 6
20663883 2010
31
Bathing suit ichthyosis. 6
20522418 2010
32
Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis. 6
20167857 2010
33
Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis. 6
19863506 2010
34
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. 6
19890349 2010
35
Case report: Prolonged collodion membrane causing constrictive bands of the digits and treatment. 6
20137757 2010
36
ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma. 6
19262603 2009
37
Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions. 6
19212342 2009
38
Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation. 6
19500103 2009
39
Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. 6
19241467 2009
40
Protein sequences encode safeguards against aggregation. 6
19156839 2009
41
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. 6
18948357 2009
42
Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis. 6
17635512 2007
43
The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. 6
16977323 2007
44
Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. 6
16968736 2006
45
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. 6
16908342 2006
46
Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. 6
16280294 2005
47
Structural changes in epidermal scale and appendages as indicators of defective TGM1 activity. 6
16133457 2005
48
A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene. 6
14996130 2004
49
Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. 6
12542526 2003
50
Novel transglutaminase 1 gene mutations (R348X/Y365D) in a Japanese family with lamellar ichthyosis. 6
12535215 2003

Variations for Ichthyosis Lamellar 1

ClinVar genetic disease variations for Ichthyosis Lamellar 1:

6 (show top 50) (show all 250)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TGM1 TGM1, 1-BP DEL, 4640T Deletion Pathogenic 12478 GRCh37:
GRCh38:
2 TGM1 TGM1, IVS5, A-G, -2 SNV Pathogenic 12479 GRCh37:
GRCh38:
3 TGM1 NM_000359.3(TGM1):c.479C>G (p.Ser160Cys) SNV Pathogenic 12482 rs121918728 GRCh37: 14:24730930-24730930
GRCh38: 14:24261724-24261724
4 TGM1 NM_000359.3(TGM1):c.425G>A (p.Arg142His) SNV Pathogenic 12485 rs121918718 GRCh37: 14:24730984-24730984
GRCh38: 14:24261778-24261778
5 TGM1 NM_000359.3(TGM1):c.1147G>A (p.Val383Met) SNV Pathogenic 12488 rs121918722 GRCh37: 14:24728293-24728293
GRCh38: 14:24259087-24259087
6 TGM1 TGM1, 1-BP DEL, 9008A Deletion Pathogenic 12490 GRCh37:
GRCh38:
7 TGM1 NM_000359.3(TGM1):c.1175G>A (p.Gly392Asp) SNV Pathogenic 12493 rs121918726 GRCh37: 14:24727864-24727864
GRCh38: 14:24258658-24258658
8 TGM1 NM_000359.3(TGM1):c.425G>C (p.Arg142Pro) SNV Pathogenic 12494 rs121918718 GRCh37: 14:24730984-24730984
GRCh38: 14:24261778-24261778
9 TGM1 NM_000359.3(TGM1):c.866A>C (p.Asn289Thr) SNV Pathogenic 12498 rs121918730 GRCh37: 14:24729156-24729156
GRCh38: 14:24259950-24259950
10 TGM1 NM_000359.3(TGM1):c.1304_1308del (p.Phe435fs) Deletion Pathogenic 39522 rs398122900 GRCh37: 14:24727585-24727589
GRCh38: 14:24258379-24258383
11 TGM1 TGM1, -86C-T SNV Pathogenic 39524 GRCh37:
GRCh38:
12 TGM1 NM_000359.3(TGM1):c.614T>A (p.Leu205Gln) SNV Pathogenic 39526 rs878853259 GRCh37: 14:24729799-24729799
GRCh38: 14:24260593-24260593
13 TGM1 NM_000359.3(TGM1):c.826T>A (p.Tyr276Asn) SNV Pathogenic 39527 rs397514523 GRCh37: 14:24729196-24729196
GRCh38: 14:24259990-24259990
14 TGM1 NM_000359.3(TGM1):c.1923_1927+2del Deletion Pathogenic 39534 rs398122902 GRCh37: 14:24724176-24724182
GRCh38: 14:24254970-24254976
15 TGM1 NM_000359.3(TGM1):c.1331dup (p.Arg445fs) Duplication Pathogenic 39535 rs398122903 GRCh37: 14:24727561-24727562
GRCh38: 14:24258355-24258356
16 TGM1 NM_000359.3(TGM1):c.2278C>T (p.Arg760Ter) SNV Pathogenic 39536 rs398122904 GRCh37: 14:24718695-24718695
GRCh38: 14:24249489-24249489
17 SULT2B1 NM_177973.2(SULT2B1):c.446C>T (p.Pro149Leu) SNV Pathogenic 426107 rs1114167424 GRCh37: 19:49094888-49094888
GRCh38: 19:48591631-48591631
18 TGM1 NM_000359.3(TGM1):c.1074C>G (p.Ser358Arg) SNV Pathogenic 553856 rs779287673 GRCh37: 14:24728366-24728366
GRCh38: 14:24259160-24259160
19 TGM1 NM_000359.3(TGM1):c.160C>T (p.Arg54Ter) SNV Pathogenic 554786 rs140000324 GRCh37: 14:24731399-24731399
GRCh38: 14:24262193-24262193
20 TGM1 NM_000359.3(TGM1):c.1166G>C (p.Arg389Pro) SNV Pathogenic 838484 GRCh37: 14:24727873-24727873
GRCh38: 14:24258667-24258667
21 TGM1 NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) SNV Pathogenic 449511 rs760429286 GRCh37: 14:24731327-24731327
GRCh38: 14:24262121-24262121
22 TGM1 NM_000359.3(TGM1):c.944G>A (p.Arg315His) SNV Pathogenic 39530 rs143473912 GRCh37: 14:24728950-24728950
GRCh38: 14:24259744-24259744
23 TGM1 NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) Duplication Pathogenic 372530 rs1057517836 GRCh37: 14:24731001-24731002
GRCh38: 14:24261795-24261796
24 TGM1 NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) SNV Pathogenic 633816 rs1566381457 GRCh37: 14:24731428-24731428
GRCh38: 14:24262222-24262222
25 TGM1 NM_000359.3(TGM1):c.1135G>C (p.Val379Leu) SNV Pathogenic 12486 rs121918720 GRCh37: 14:24728305-24728305
GRCh38: 14:24259099-24259099
26 TGM1 NM_000359.3(TGM1):c.305A>T (p.Asp102Val) SNV Pathogenic 39525 rs398122901 GRCh37: 14:24731254-24731254
GRCh38: 14:24262048-24262048
27 TGM1 NM_000359.3(TGM1):c.857G>A (p.Arg286Gln) SNV Pathogenic 12495 rs121918727 GRCh37: 14:24729165-24729165
GRCh38: 14:24259959-24259959
28 TGM1 NM_000359.3(TGM1):c.427C>T (p.Arg143Cys) SNV Pathogenic 372531 rs531650682 GRCh37: 14:24730982-24730982
GRCh38: 14:24261776-24261776
29 TGM1 NM_000359.3(TGM1):c.1402+1G>A SNV Pathogenic 1031534 GRCh37: 14:24727490-24727490
GRCh38: 14:24258284-24258284
30 TGM1 NM_000359.3(TGM1):c.877-2A>G SNV Pathogenic 279911 rs142634031 GRCh37: 14:24729019-24729019
GRCh38: 14:24259813-24259813
31 TGM1 NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) SNV Pathogenic 372534 rs121918731 GRCh37: 14:24728975-24728975
GRCh38: 14:24259769-24259769
32 TGM1 NM_000359.3(TGM1):c.788G>A (p.Trp263Ter) SNV Pathogenic 419403 rs367699137 GRCh37: 14:24729234-24729234
GRCh38: 14:24260028-24260028
33 TGM1 NM_000359.3(TGM1):c.1019G>A (p.Gly340Glu) SNV Pathogenic 813833 rs867950920 GRCh37: 14:24728421-24728421
GRCh38: 14:24259215-24259215
34 TGM1 NM_000359.3(TGM1):c.1054C>G (p.Pro352Ala) SNV Pathogenic 694521 rs1594571148 GRCh37: 14:24728386-24728386
GRCh38: 14:24259180-24259180
35 TGM1 NM_000359.3(TGM1):c.1928-1G>A SNV Pathogenic 633793 rs112419023 GRCh37: 14:24724031-24724031
GRCh38: 14:24254825-24254825
36 TGM1 NM_000359.3(TGM1):c.1521del (p.Gln508fs) Deletion Pathogenic 633792 rs1566377068 GRCh37: 14:24724694-24724694
GRCh38: 14:24255488-24255488
37 TGM1 NM_000359.3(TGM1):c.1298+1G>A SNV Pathogenic 633791 rs1566378425 GRCh37: 14:24727740-24727740
GRCh38: 14:24258534-24258534
38 TGM1 NM_000359.3(TGM1):c.1307A>G (p.His436Arg) SNV Pathogenic 633789 rs1381998109 GRCh37: 14:24727586-24727586
GRCh38: 14:24258380-24258380
39 TGM1 NM_000359.3(TGM1):c.316C>T (p.Arg106Ter) SNV Pathogenic 558256 rs773303931 GRCh37: 14:24731243-24731243
GRCh38: 14:24262037-24262037
40 TGM1 NM_000359.3(TGM1):c.1042C>T (p.Arg348Ter) SNV Pathogenic 556205 rs1296165092 GRCh37: 14:24728398-24728398
GRCh38: 14:24259192-24259192
41 TGM1 NM_000359.3(TGM1):c.566dup (p.Ser190fs) Duplication Pathogenic 555976 rs1211601030 GRCh37: 14:24729846-24729847
GRCh38: 14:24260640-24260641
42 TGM1 NM_000359.3(TGM1):c.1224_1225CA[1] (p.Thr409fs) Microsatellite Pathogenic 555175 rs1555306113 GRCh37: 14:24727812-24727813
GRCh38: 14:24258606-24258607
43 TGM1 NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) SNV Pathogenic/Likely pathogenic 12499 rs121918731 GRCh37: 14:24728975-24728975
GRCh38: 14:24259769-24259769
44 TGM1 NM_000359.3(TGM1):c.1166G>A (p.Arg389His) SNV Pathogenic/Likely pathogenic 12489 rs121918723 GRCh37: 14:24727873-24727873
GRCh38: 14:24258667-24258667
45 TGM1 NM_000359.3(TGM1):c.1187G>T (p.Arg396Leu) SNV Pathogenic/Likely pathogenic 12487 rs121918721 GRCh37: 14:24727852-24727852
GRCh38: 14:24258646-24258646
46 TGM1 NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) SNV Pathogenic/Likely pathogenic 12484 rs121918717 GRCh37: 14:24728926-24728926
GRCh38: 14:24259720-24259720
47 TGM1 NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) SNV Pathogenic/Likely pathogenic 39531 rs143473912 GRCh37: 14:24728950-24728950
GRCh38: 14:24259744-24259744
48 TGM1 NM_000359.3(TGM1):c.1187G>A (p.Arg396His) SNV Pathogenic/Likely pathogenic 39533 rs121918721 GRCh37: 14:24727852-24727852
GRCh38: 14:24258646-24258646
49 TGM1 NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) Deletion Likely pathogenic 39537 rs398122905 GRCh37: 14:24727812-24727816
GRCh38: 14:24258606-24258610
50 TGM1 NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) SNV Likely pathogenic 372532 rs201868387 GRCh37: 14:24729232-24729232
GRCh38: 14:24260026-24260026

Expression for Ichthyosis Lamellar 1

Search GEO for disease gene expression data for Ichthyosis Lamellar 1.

Pathways for Ichthyosis Lamellar 1

GO Terms for Ichthyosis Lamellar 1

Sources for Ichthyosis Lamellar 1

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
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