CHBL1
MCID: CHL140
MIFTS: 40

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 13 6 15 41
Chilblain Lupus Erythematosus 76 30 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, and related phenotypes are abnormality of the nail and antinuclear antibody positivity

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

Diseases in the Familial Chilblain Lupus family:

Chilblain Lupus 1 Chilblain Lupus 2

Diseases related to Chilblain Lupus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 familial chilblain lupus 33.1 SAMHD1 TMEM173 TREX1
2 aicardi-goutieres syndrome 29.0 EXO1 SAMHD1 TMEM173 TREX1
3 lupus erythematosus tumidus 11.3
4 singleton-merten syndrome 11.3
5 chilblain lupus 2 11.2
6 lupus erythematosus 10.8
7 cutaneous lupus erythematosus 10.2
8 systemic lupus erythematosus 10.2
9 lymphoma 10.1
10 pancytopenia 10.1
11 perniosis 10.1
12 discoid lupus erythematosus 10.1
13 neonatal lupus erythematosus 10.1
14 rheumatoid arthritis 10.0
15 lymphoma, hodgkin, classic 10.0
16 arthritis 10.0
17 antiphospholipid syndrome 10.0
18 vasculitis 10.0
19 lichen planus 10.0
20 subacute cutaneous lupus erythematosus 10.0
21 cryptococcosis 9.8
22 calcinosis 9.8
23 granulomatous dermatitis 9.8
24 scabies 9.8
25 localized scleroderma 9.8
26 malakoplakia 9.8
27 pemphigus erythematosus 9.8
28 t-cell prolymphocytic leukemia 9.4 JAK1 SAMHD1

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:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the nail 33 occasional (7.5%) HP:0001597
2 antinuclear antibody positivity 33 occasional (7.5%) HP:0003493
3 arthralgia 33 HP:0002829
4 skin ulcer 33 HP:0200042

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 Erythematosus 30

Anatomical Context for Chilblain Lupus 1

MalaCards organs/tissues related to Chilblain Lupus 1:

42
Skin

Publications for Chilblain Lupus 1

Articles related to Chilblain Lupus 1:

(show top 50) (show all 55)
# Title Authors Year
1
Assessment of Clinical Response to Janus Kinase Inhibition in Patients With Familial Chilblain Lupus and TREX1 Mutation. ( 30673078 )
2019
2
Targeted Treatment of TREX1 Chilblain Lupus and Other Interferonopathies-Taming T REX. ( 30673073 )
2019
3
Aicardi-GoutiA"res syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus. ( 29341198 )
2018
4
Chilblain lupus erythematosus presenting with bilateral hemorrhagic bullae of distal halluces. ( 30063789 )
2018
5
Chilblain Lupus with Nail Involvement: A Case Report and a Brief Overview. ( 30643780 )
2018
6
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency. ( 30282666 )
2018
7
Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30. ( 28719438 )
2017
8
Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies? ( 28844088 )
2017
9
A case of chilblain lupus erythematosus with lupus erythematosus/lichen planus overlap syndrome. ( 28322475 )
2017
10
Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy. ( 28802089 )
2017
11
[Familial chilblain lupus : Type 1 interferonopathy with model character]. ( 28389709 )
2017
12
Chilblain lupus erythematosus treated successfully with mycophenolate mofetil. ( 28345755 )
2017
13
Familial chilblain lupus due to a gain-of-function mutation in STING. ( 27566796 )
2016
14
JAK1/2 Inhibitor Ruxolitinib Controls a Case of Chilblain Lupus Erythematosus. ( 26916391 )
2016
15
Familial Chilblain Lupus Due to a Novel Mutation in the Exonuclease III Domain of 3' Repair Exonuclease 1 (TREX1). ( 25517357 )
2015
16
Chilblain lupus erythematosus in an adolescent girl. ( 25506560 )
2014
17
Chilblain lupus erythematosus in a patient affected by Hodgkin lymphoma. ( 23373885 )
2013
18
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. ( 22829693 )
2013
19
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. ( 23989343 )
2013
20
Docetaxel-induced relapse of subacute cutaneous lupus erythematosus and chilblain lupus. ( 23848065 )
2013
21
Systemic involvement in TREX1-associated familial chilblain lupus. ( 24034389 )
2013
22
Deregulated Type I IFN Response in TREX1-Associated Familial Chilblain Lupus. ( 24270665 )
2013
23
Chilblain lupus erythematosus. ( 24285807 )
2013
24
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-GoutiA"res syndrome. ( 22356656 )
2012
25
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
26
Chilblain lupus induced by TNF-I+ antagonists: a case report and literature review. ( 22207249 )
2012
27
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. ( 21204240 )
2011
28
Blue (or purple) toes: chilblains or chilblain lupus-like lesions are a manifestation of Aicardi-GoutiA"res syndrome and familial chilblain lupus. ( 19751886 )
2009
29
Lupus pernio or chilblain lupus?: two different entities. ( 19736207 )
2009
30
Familial chilblain lupus--a monogenic form of cutaneous lupus erythematosus due to a heterozygous mutation in TREX1. ( 19478477 )
2009
31
Chilblain lupus erythematosus--a review of literature. ( 18543054 )
2008
32
Cutaneous histopathological findings of Aicardi-GoutiA"res syndrome, overlap with chilblain lupus. ( 18422690 )
2008
33
Chilblain lupus erythematosus-a review of literature. ( 19125230 )
2008
34
A mutation in TREX1 that impairs susceptibility to granzyme A- mediated cell death underlies familial chilblain lupus. ( 17440703 )
2007
35
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
36
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. ( 16960810 )
2006
37
Infliximab induced chilblain lupus in a patient with rheumatoid arthritis. ( 15801042 )
2005
38
Chilblain lupus erythematosus mimicking acrofacial vitiligo. ( 17642933 )
2003
39
Chilblain lupus erythematosus lesions precipitated by the cold. ( 11926337 )
2002
40
Verrucous form of chilblain lupus erythematosus. ( 11763388 )
2001
41
Chilblain lupus erythematosus Hutchinson: successful treatment with mycophenolate mofetil. ( 11176709 )
2001
42
Lethal pancytopenia associated with chilblain lupus erythematosus. ( 11200851 )
2000
43
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. ( 10342714 )
1999
44
Chilblain lupus erythematosus is associated with antibodies to SSA/Ro. ( 10599339 )
1999
45
Chilblain lupus erythematosus of Hutchinson responding to surgical treatment: a report of two patients with anti-Ro/SS-A antibodies. ( 8731683 )
1996
46
Violaceous rash of dorsal fingers in a woman. Diagnosis: chilblain lupus erythematosus (perniosis). ( 8629851 )
1996
47
Chilblain lupus erythematosus (lupus pernio): clinical review of the Mayo Clinic experience and proposal of diagnostic criteria. ( 7867381 )
1994
48
Pregnancy-induced chilblain lupus erythematosus. ( 8252769 )
1993
49
Chilblain lupus erythematosus and lupus pernio--the same entity? ( 1421633 )
1992
50
Chilblain lupus erythematosus: report of 15 cases. ( 1558991 )
1992

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 99)
# Gene Variation Type Significance SNP ID Assembly Location
1 TREX1 NM_033629.5(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
2 TREX1 NM_033629.5(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_033629.5(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh37 Chromosome 3, 48508106: 48508106
5 TREX1 NM_033629.5(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.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh38 Chromosome 3, 48467567: 48467567
13 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh37 Chromosome 3, 48508966: 48508966
14 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh38 Chromosome 3, 48466853: 48466853
15 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh37 Chromosome 3, 48508252: 48508252
16 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh38 Chromosome 3, 48466838: 48466838
17 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh37 Chromosome 3, 48508237: 48508237
18 TREX1 NM_033629.4(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 GRCh38 Chromosome 3, 48467117: 48467117
19 TREX1 NM_033629.4(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 GRCh37 Chromosome 3, 48508516: 48508516
20 SAMHD1 NM_015474.3(SAMHD1): c.*1008C> G single nucleotide variant Likely benign rs116489517 GRCh38 Chromosome 20, 36891924: 36891924
21 SAMHD1 NM_015474.3(SAMHD1): c.*1008C> G single nucleotide variant Likely benign rs116489517 GRCh37 Chromosome 20, 35520327: 35520327
22 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 GRCh38 Chromosome 20, 36892221: 36892221
23 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 GRCh37 Chromosome 20, 35520624: 35520624
24 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 GRCh38 Chromosome 20, 36892692: 36892692
25 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 GRCh37 Chromosome 20, 35521095: 35521095
26 SAMHD1 NM_015474.3(SAMHD1): c.*95T> C single nucleotide variant Likely benign rs147220022 GRCh38 Chromosome 20, 36892837: 36892837
27 SAMHD1 NM_015474.3(SAMHD1): c.*95T> C single nucleotide variant Likely benign rs147220022 GRCh37 Chromosome 20, 35521240: 35521240
28 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 GRCh37 Chromosome 20, 35545150: 35545150
29 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 GRCh38 Chromosome 20, 36916747: 36916747
30 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147240777 GRCh37 Chromosome 20, 35579970: 35579970
31 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147240777 GRCh38 Chromosome 20, 36951567: 36951567
32 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 GRCh37 Chromosome 20, 35579980: 35579980
33 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 GRCh38 Chromosome 20, 36951577: 36951577
34 SAMHD1 NM_015474.3(SAMHD1): c.-39C> A single nucleotide variant Likely benign rs368233437 GRCh37 Chromosome 20, 35580085: 35580085
35 SAMHD1 NM_015474.3(SAMHD1): c.-39C> A single nucleotide variant Likely benign rs368233437 GRCh38 Chromosome 20, 36951682: 36951682
36 SAMHD1 NM_015474.3(SAMHD1): c.-110T> C single nucleotide variant Likely benign rs28372906 GRCh37 Chromosome 20, 35580156: 35580156
37 SAMHD1 NM_015474.3(SAMHD1): c.-110T> C single nucleotide variant Likely benign rs28372906 GRCh38 Chromosome 20, 36951753: 36951753
38 SAMHD1 NM_015474.3(SAMHD1): c.*362G> A single nucleotide variant Uncertain significance rs886056646 GRCh38 Chromosome 20, 36892570: 36892570
39 SAMHD1 NM_015474.3(SAMHD1): c.*362G> A single nucleotide variant Uncertain significance rs886056646 GRCh37 Chromosome 20, 35520973: 35520973
40 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh37 Chromosome 20, 35526858: 35526858
41 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh38 Chromosome 20, 36898455: 36898455
42 SAMHD1 NM_015474.3(SAMHD1): c.-10A> G single nucleotide variant Uncertain significance rs199721283 GRCh37 Chromosome 20, 35580056: 35580056
43 SAMHD1 NM_015474.3(SAMHD1): c.-10A> G single nucleotide variant Uncertain significance rs199721283 GRCh38 Chromosome 20, 36951653: 36951653
44 SAMHD1 NM_015474.3(SAMHD1): c.-31T> C single nucleotide variant Likely benign rs142162198 GRCh37 Chromosome 20, 35580077: 35580077
45 SAMHD1 NM_015474.3(SAMHD1): c.-31T> C single nucleotide variant Likely benign rs142162198 GRCh38 Chromosome 20, 36951674: 36951674
46 SAMHD1 NM_015474.3(SAMHD1): c.*536C> T single nucleotide variant Uncertain significance rs886056645 GRCh38 Chromosome 20, 36892396: 36892396
47 SAMHD1 NM_015474.3(SAMHD1): c.*536C> T single nucleotide variant Uncertain significance rs886056645 GRCh37 Chromosome 20, 35520799: 35520799
48 SAMHD1 NM_015474.3(SAMHD1): c.*503A> G single nucleotide variant Uncertain significance rs757372495 GRCh38 Chromosome 20, 36892429: 36892429
49 SAMHD1 NM_015474.3(SAMHD1): c.*503A> G single nucleotide variant Uncertain significance rs757372495 GRCh37 Chromosome 20, 35520832: 35520832
50 SAMHD1 NM_015474.3(SAMHD1): c.*71C> A single nucleotide variant Likely benign rs138927042 GRCh38 Chromosome 20, 36892861: 36892861

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 immune system process GO:0002376 9.61 EXO1 SAMHD1 TMEM173
2 DNA repair GO:0006281 9.54 EXO1 SAMHD1 TREX1
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.48 EXO1 TREX1
4 DNA recombination GO:0006310 9.46 EXO1 TREX1
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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