CHBL1
MCID: CHL140
MIFTS: 42

Chilblain Lupus 1 (CHBL1)

Categories: Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Chilblain Lupus 1

MalaCards integrated aliases for Chilblain Lupus 1:

Name: Chilblain Lupus 1 58 76 30 6 45 74
Chilblain Lupus 58 12 60 30 13 6 15 41
Chilblain Lupus Erythematosus 76 6
Chbl1 58 76
Lupus Erythematosus, Cutaneous 45
Hutchinson Lupus 76
Chle 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
environmental triggers - cold and wet exposure
allelic to aicardi-goutieres syndrome


HPO:

33
chilblain lupus 1:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060386
OMIM 58 610448
SNOMED-CT 69 11361009 72470008
MESH via Orphanet 46 C535924
ICD10 via Orphanet 35 L93.2
UMLS via Orphanet 75 C0024145
Orphanet 60 ORPHA90280
UMLS 74 C0024145

Summaries for Chilblain Lupus 1

OMIM : 58 Chilblain lupus is a cutaneous form of systemic lupus erythematosus (SLE; 152700) characterized by the appearance of painful bluish-red papular or nodular lesions of the skin in acral locations (including the dorsal aspects of fingers and toes, heels, nose, cheeks, ears, and, in some cases, knees) precipitated by cold and wet exposure (summary by Lee-Kirsch et al., 2006). (610448)

MalaCards based summary : Chilblain Lupus 1, also known as chilblain lupus, is related to familial chilblain lupus and aicardi-goutieres syndrome. An important gene associated with Chilblain Lupus 1 is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways is Human cytomegalovirus infection. Affiliated tissues include skin, bone and t cells, and related phenotypes are antinuclear antibody positivity and abnormality of the nail

Disease Ontology : 12 A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has material basis in autosomal dominant inheritance of mutation in the TREX1 gene.

UniProtKB/Swiss-Prot : 76 Chilblain lupus 1: A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade.

Related Diseases for Chilblain Lupus 1

Graphical network of the top 20 diseases related to Chilblain Lupus 1:



Diseases related to Chilblain Lupus 1

Symptoms & Phenotypes for Chilblain Lupus 1

Human phenotypes related to Chilblain Lupus 1:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 antinuclear antibody positivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0003493
2 abnormality of the nail 33 occasional (7.5%) HP:0001597
3 skin ulcer 60 33 Frequent (79-30%) HP:0200042
4 arthralgia 33 HP:0002829
5 hyperkeratosis 60 Very frequent (99-80%)
6 asthma 60 Occasional (29-5%)
7 skin rash 60 Frequent (79-30%)
8 cutis marmorata 60 Frequent (79-30%)
9 increased antibody level in blood 60 Frequent (79-30%)
10 systemic lupus erythematosus 60 Occasional (29-5%)
11 raynaud phenomenon 60 Frequent (79-30%)
12 inflammatory abnormality of the skin 60 Frequent (79-30%)
13 antiphospholipid antibody positivity 60 Occasional (29-5%)
14 rheumatoid factor positive 60 Frequent (79-30%)
15 malar rash 60 Frequent (79-30%)
16 erythematous papule 60 Frequent (79-30%)
17 finger swelling 60 Frequent (79-30%)
18 pruritis on hand 60 Frequent (79-30%)
19 discoid lupus rash 60 Occasional (29-5%)
20 chronic myelomonocytic leukemia 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Vascular:
no raynaud phenomenon

Skin Nails Hair Skin:
painful bluish-red papules or nodules (fingers, toes, nose, cheek, ears)
cutaneous ulcers
healed areas are atrophic and hypopigmented
no cutaneous photosensitivity

Skin Nails Hair Nails:
subungual lesions (in some patients)

Skeletal:
arthralgias (knees and shoulders)

Skin Nails Hair Skin Histology:
deep inflammatory perivascular infiltrate with granular deposits of immunoglobulins and complement along basement membrane

Immunology:
antinuclear antibody present (in some patients)

Clinical features from OMIM:

610448

MGI Mouse Phenotypes related to Chilblain Lupus 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.02 EXO1 JAK1 SAMHD1 TMEM173 TREX1

Drugs & Therapeutics for Chilblain Lupus 1

Search Clinical Trials , NIH Clinical Center for Chilblain Lupus 1

Cochrane evidence based reviews: lupus erythematosus, cutaneous

Genetic Tests for Chilblain Lupus 1

Genetic tests related to Chilblain Lupus 1:

# Genetic test Affiliating Genes
1 Chilblain Lupus 1 30 TREX1
2 Chilblain Lupus 30

Anatomical Context for Chilblain Lupus 1

MalaCards organs/tissues related to Chilblain Lupus 1:

42
Skin, Bone, T Cells

Publications for Chilblain Lupus 1

Articles related to Chilblain Lupus 1:

(show top 50) (show all 59)
# Title Authors Year
1
Chilblain lupus during treatment with golimumab for rheumatoid arthritis. ( 30951207 )
2019
2
Drug-induced acute eosinophilic pneumonia due to hydroxychloroquine in a chilblain lupus patient. ( 31050015 )
2019
3
Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation. ( 30673078 )
2019
4
Targeted Treatment of TREX1 Chilblain Lupus and Other Interferonopathies-Taming T REX. ( 30673073 )
2019
5
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency. ( 30282666 )
2019
6
Aicardi-Goutières syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus. ( 29341198 )
2018
7
Chilblain lupus erythematosus presenting with bilateral hemorrhagic bullae of distal halluces. ( 30063789 )
2018
8
Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30. ( 28719438 )
2018
9
Chilblain Lupus with Nail Involvement: A Case Report and a Brief Overview. ( 30643780 )
2018
10
Familial chilblain lupus due to a gain-of-function mutation in STING. ( 27566796 )
2017
11
Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies? ( 28844088 )
2017
12
A case of chilblain lupus erythematosus with lupus erythematosus/lichen planus overlap syndrome. ( 28322475 )
2017
13
Chilblain lupus erythematosus treated successfully with mycophenolate mofetil. ( 28345755 )
2017
14
Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy. ( 28802089 )
2017
15
[Familial chilblain lupus : Type 1 interferonopathy with model character]. ( 28389709 )
2017
16
JAK1/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus. ( 26916391 )
2016
17
Familial chilblain lupus due to a novel mutation in the exonuclease III domain of 3' repair exonuclease 1 (TREX1). ( 25517357 )
2015
18
Deregulated type I IFN response in TREX1-associated familial chilblain lupus. ( 24270665 )
2014
19
Chilblain lupus erythematosus in an adolescent girl. ( 25506560 )
2014
20
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. ( 22829693 )
2013
21
Docetaxel-induced relapse of subacute cutaneous lupus erythematosus and chilblain lupus. ( 23848065 )
2013
22
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. ( 23989343 )
2013
23
Systemic involvement in TREX1-associated familial chilblain lupus. ( 24034389 )
2013
24
Chilblain lupus erythematosus in a patient affected by Hodgkin lymphoma. ( 23373885 )
2013
25
Chilblain lupus erythematosus. ( 24285807 )
2013
26
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome. ( 22356656 )
2012
27
Chilblain lupus induced by TNF-α antagonists: a case report and literature review. ( 22207249 )
2012
28
Severe chilblain lupus is associated with heterozygous missense mutations of catalytic amino acids or their adjacent mutations in the exonuclease domains of 3'-repair exonuclease 1. ( 22718116 )
2012
29
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. ( 21808053 )
2011
30
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. ( 21204240 )
2011
31
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. ( 20799324 )
2010
32
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-Goutières syndrome and familial chilblain lupus. ( 19751886 )
2009
33
Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. ( 19478477 )
2009
34
Lupus pernio or chilblain lupus?: two different entities. ( 19736207 )
2009
35
Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus. ( 18422690 )
2008
36
Chilblain lupus erythematosus--a review of literature. ( 18543054 )
2008
37
Chilblain lupus erythematosus-a review of literature. ( 19125230 )
2008
38
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
39
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. ( 17440703 )
2007
40
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. ( 16960810 )
2006
41
Infliximab induced chilblain lupus in a patient with rheumatoid arthritis. ( 15801042 )
2005
42
Chilblain lupus erythematosus mimicking acrofacial vitiligo. ( 17642933 )
2003
43
Chilblain lupus erythematosus lesions precipitated by the cold. ( 11926337 )
2002
44
Chilblain lupus erythematosus Hutchinson: successful treatment with mycophenolate mofetil. ( 11176709 )
2001
45
Verrucous form of chilblain lupus erythematosus. ( 11763388 )
2001
46
Lethal pancytopenia associated with chilblain lupus erythematosus. ( 11200851 )
2000
47
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. ( 10342714 )
1999
48
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. ( 10599339 )
1999
49
Violaceous rash of dorsal fingers in a woman. Diagnosis: chilblain lupus erythematosus (perniosis). ( 8629851 )
1996
50
Chilblain lupus erythematosus of Hutchinson responding to surgical treatment: a report of two patients with anti-Ro/SS-A antibodies. ( 8731683 )
1996

Variations for Chilblain Lupus 1

UniProtKB/Swiss-Prot genetic disease variations for Chilblain Lupus 1:

76
# Symbol AA change Variation ID SNP ID
1 TREX1 p.Asp18Asn VAR_037948 rs121908117

ClinVar genetic disease variations for Chilblain Lupus 1:

6 (show top 50) (show all 105)
# Gene Variation Type Significance SNP ID Assembly Location
1 TREX1 NM_033629.2(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
2 TREX1 NM_033629.2(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh38 Chromosome 3, 48466996: 48466996
3 TREX1 TREX1, 1-BP DUP, 375T duplication Pathogenic
4 TREX1 NM_033629.2(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh37 Chromosome 3, 48508106: 48508106
5 TREX1 NM_033629.2(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh38 Chromosome 3, 48466707: 48466707
6 SAMHD1 NM_015474.3(SAMHD1): c.602T> A (p.Ile201Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138603088 GRCh37 Chromosome 20, 35559186: 35559186
7 SAMHD1 NM_015474.3(SAMHD1): c.602T> A (p.Ile201Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138603088 GRCh38 Chromosome 20, 36930783: 36930783
8 TREX1 NM_033629.5(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 GRCh37 Chromosome 3, 48508851: 48508851
9 TREX1 NM_033629.5(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 GRCh38 Chromosome 3, 48467452: 48467452
10 TREX1 NM_033629.4(TREX1): c.907A> C (p.Thr303Pro) single nucleotide variant Uncertain significance rs76224909 GRCh37 Chromosome 3, 48508961: 48508961
11 TREX1 NM_033629.4(TREX1): c.907A> C (p.Thr303Pro) single nucleotide variant Uncertain significance rs76224909 GRCh38 Chromosome 3, 48467562: 48467562
12 TREX1 NM_033629.4(TREX1): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs760838030 GRCh37 Chromosome 3, 48508394: 48508394
13 TREX1 NM_033629.4(TREX1): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs760838030 GRCh38 Chromosome 3, 48466995: 48466995
14 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh38 Chromosome 3, 48467567: 48467567
15 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh37 Chromosome 3, 48508966: 48508966
16 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh38 Chromosome 3, 48466853: 48466853
17 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh37 Chromosome 3, 48508252: 48508252
18 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh38 Chromosome 3, 48466838: 48466838
19 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh37 Chromosome 3, 48508237: 48508237
20 TREX1 NM_033629.4(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 GRCh38 Chromosome 3, 48467117: 48467117
21 TREX1 NM_033629.4(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 GRCh37 Chromosome 3, 48508516: 48508516
22 SAMHD1 NM_015474.3(SAMHD1): c.*1008C> G single nucleotide variant Likely benign rs116489517 GRCh38 Chromosome 20, 36891924: 36891924
23 SAMHD1 NM_015474.3(SAMHD1): c.*1008C> G single nucleotide variant Likely benign rs116489517 GRCh37 Chromosome 20, 35520327: 35520327
24 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 GRCh38 Chromosome 20, 36892221: 36892221
25 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 GRCh37 Chromosome 20, 35520624: 35520624
26 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 GRCh38 Chromosome 20, 36892692: 36892692
27 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 GRCh37 Chromosome 20, 35521095: 35521095
28 SAMHD1 NM_015474.3(SAMHD1): c.*95T> C single nucleotide variant Likely benign rs147220022 GRCh38 Chromosome 20, 36892837: 36892837
29 SAMHD1 NM_015474.3(SAMHD1): c.*95T> C single nucleotide variant Likely benign rs147220022 GRCh37 Chromosome 20, 35521240: 35521240
30 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 GRCh37 Chromosome 20, 35545150: 35545150
31 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 GRCh38 Chromosome 20, 36916747: 36916747
32 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147240777 GRCh37 Chromosome 20, 35579970: 35579970
33 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147240777 GRCh38 Chromosome 20, 36951567: 36951567
34 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 GRCh37 Chromosome 20, 35579980: 35579980
35 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 GRCh38 Chromosome 20, 36951577: 36951577
36 SAMHD1 NM_015474.3(SAMHD1): c.-39C> A single nucleotide variant Likely benign rs368233437 GRCh37 Chromosome 20, 35580085: 35580085
37 SAMHD1 NM_015474.3(SAMHD1): c.-39C> A single nucleotide variant Likely benign rs368233437 GRCh38 Chromosome 20, 36951682: 36951682
38 SAMHD1 NM_015474.3(SAMHD1): c.-110T> C single nucleotide variant Likely benign rs28372906 GRCh37 Chromosome 20, 35580156: 35580156
39 SAMHD1 NM_015474.3(SAMHD1): c.-110T> C single nucleotide variant Likely benign rs28372906 GRCh38 Chromosome 20, 36951753: 36951753
40 SAMHD1 NM_015474.3(SAMHD1): c.*362G> A single nucleotide variant Uncertain significance rs886056646 GRCh38 Chromosome 20, 36892570: 36892570
41 SAMHD1 NM_015474.3(SAMHD1): c.*362G> A single nucleotide variant Uncertain significance rs886056646 GRCh37 Chromosome 20, 35520973: 35520973
42 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh37 Chromosome 20, 35526858: 35526858
43 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh38 Chromosome 20, 36898455: 36898455
44 SAMHD1 NM_015474.3(SAMHD1): c.-10A> G single nucleotide variant Uncertain significance rs199721283 GRCh37 Chromosome 20, 35580056: 35580056
45 SAMHD1 NM_015474.3(SAMHD1): c.-10A> G single nucleotide variant Uncertain significance rs199721283 GRCh38 Chromosome 20, 36951653: 36951653
46 SAMHD1 NM_015474.3(SAMHD1): c.-31T> C single nucleotide variant Likely benign rs142162198 GRCh37 Chromosome 20, 35580077: 35580077
47 SAMHD1 NM_015474.3(SAMHD1): c.-31T> C single nucleotide variant Likely benign rs142162198 GRCh38 Chromosome 20, 36951674: 36951674
48 SAMHD1 NM_015474.3(SAMHD1): c.*536C> T single nucleotide variant Uncertain significance rs886056645 GRCh38 Chromosome 20, 36892396: 36892396
49 SAMHD1 NM_015474.3(SAMHD1): c.*536C> T single nucleotide variant Uncertain significance rs886056645 GRCh37 Chromosome 20, 35520799: 35520799
50 SAMHD1 NM_015474.3(SAMHD1): c.*503A> G single nucleotide variant Uncertain significance rs757372495 GRCh38 Chromosome 20, 36892429: 36892429

Expression for Chilblain Lupus 1

Search GEO for disease gene expression data for Chilblain Lupus 1.

Pathways for Chilblain Lupus 1

Pathways related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 JAK1 SAMHD1 TMEM173

GO Terms for Chilblain Lupus 1

Biological processes related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.54 EXO1 SAMHD1 TREX1
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.48 EXO1 TREX1
3 DNA recombination GO:0006310 9.46 EXO1 TREX1
4 immune system process GO:0002376 9.43 SAMHD1 TMEM173
5 type I interferon signaling pathway GO:0060337 9.4 JAK1 SAMHD1
6 mismatch repair GO:0006298 9.32 EXO1 TREX1
7 cellular response to interferon-beta GO:0035458 9.26 TMEM173 TREX1
8 somatic hypermutation of immunoglobulin genes GO:0016446 9.16 EXO1 SAMHD1
9 DNA replication GO:0006260 9.13 EXO1 SAMHD1 TREX1
10 regulation of type I interferon production GO:0032479 8.62 TMEM173 TREX1

Molecular functions related to Chilblain Lupus 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.65 EXO1 JAK1 PIR SAMHD1 TREX1
2 nuclease activity GO:0004518 9.16 EXO1 TREX1
3 double-stranded DNA binding GO:0003690 9.02 TREX1
4 single-stranded DNA binding GO:0003697 8.96 SAMHD1 TREX1
5 exonuclease activity GO:0004527 8.62 EXO1 TREX1

Sources for Chilblain Lupus 1

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