ALUNC
MCID: ALP097
MIFTS: 52

Alopecia Universalis Congenita (ALUNC)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Alopecia Universalis Congenita

MalaCards integrated aliases for Alopecia Universalis Congenita:

Name: Alopecia Universalis Congenita 57 12 75 29 6 40
Alopecia Universalis 57 12 76 53 59 75 37 13 6 15 73
Alunc 57 75
Alopecia Areata Universalis 53
Atrichia, Generalized 57
Atrichia Generalized 75
Au 53

Characteristics:

Orphanet epidemiological data:

59
alopecia universalis
Prevalence: 1-5/10000 (Europe);

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
alopecia universalis congenita:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 203655
Disease Ontology 12 DOID:0050634
Orphanet 59 ORPHA701
MESH via Orphanet 45 C537055
UMLS via Orphanet 74 C0263505
ICD10 via Orphanet 34 L63.1
MedGen 42 C1859877
MeSH 44 D000505
KEGG 37 H01158
ICD10 33 L63.1
UMLS 73 C0263505

Summaries for Alopecia Universalis Congenita

NIH Rare Diseases : 53 Alopecia universalis (AU) is a condition characterized by the complete loss of hair on the scalp and body. It is an advanced form of alopecia areata, a condition that causes round patches of hair loss. Although the exact cause of AU is unknown, it is thought to be an autoimmune condition in which the person's immune system mistakenly attacks the hair follicles. An interaction between genetic and environmental factors is thought to play a role in the condition's onset. ThereĀ is currently no cure for AU, but sometimes hair regrowth occurs on its own, even after many years.

MalaCards based summary : Alopecia Universalis Congenita, also known as alopecia universalis, is related to alopecia and nail disorder, nonsyndromic congenital, 1. An important gene associated with Alopecia Universalis Congenita is HR (HR, Lysine Demethylase And Nuclear Receptor Corepressor). Affiliated tissues include skin, thyroid and t cells, and related phenotypes are absent eyelashes and absent eyebrow

Disease Ontology : 12 An alopecia characterized by the complete loss of hair on the scalp and body.

OMIM : 57 Alopecia universalis congenita is a severe autosomal recessive form of alopecia characterized by a complete absence of hair development affecting all scalp and body hair (Nothen et al., 1998). This rare disorder is clearly distinct from alopecia areata (AA1; 104000), which has an autoimmune basis with probable genetic predisposition. (203655)

UniProtKB/Swiss-Prot : 75 Alopecia universalis congenita: A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy.

Wikipedia : 76 Alopecia universalis (AU) or alopecia areata universalis is a medical condition involving loss of all... more...

Related Diseases for Alopecia Universalis Congenita

Diseases related to Alopecia Universalis Congenita via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 241)
# Related Disease Score Top Affiliating Genes
1 alopecia 29.8 AIRE FOXN1 HR MBTPS2
2 nail disorder, nonsyndromic congenital, 1 29.8 AIRE MBTPS2
3 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.5
4 cafe-au-lait spots, multiple 12.5
5 alopecia universalis onychodystrophy vitiligo 12.4
6 au-kline syndrome 12.4
7 autosomal dominant café au lait spots 12.3
8 legius syndrome 12.0
9 congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome 12.0
10 watson syndrome 11.9
11 gastrocutaneous syndrome 11.7
12 neurofibromatosis, type i 11.6
13 alopecia areata 11.6
14 hypotrichosis 7 11.6
15 satoyoshi syndrome 11.6
16 neurofibromatosis, type iv, of riccardi 11.5
17 mccune-albright syndrome 11.5
18 fibrous dysplasia 11.3
19 phacomatosis pigmentovascularis 11.3
20 ring chromosome 12 11.3
21 ring chromosome 15 11.3
22 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.2
23 alopecia, epilepsy, pyorrhea, mental subnormality 11.2
24 mismatch repair cancer syndrome 11.2
25 neurofibromatosis-noonan syndrome 11.1
26 hyperpigmentation with or without hypopigmentation, familial progressive 11.1
27 fibromatosis multiple non ossifying 11.0
28 nijmegen breakage syndrome 10.9
29 neurofibromatosis, familial spinal 10.9
30 odonto onycho dysplasia with alopecia 10.9
31 pinheiro freire-maia miranda syndrome 10.9
32 ring chromosome 17 10.9
33 ring chromosome 7 10.9
34 alopecia totalis 10.4
35 hepatitis c 10.4
36 hepatitis 10.4
37 pemphigus foliaceus 10.3
38 diabetes mellitus 10.3
39 psoriasis 10.3
40 hypothyroidism 10.2
41 viral infectious disease 10.2
42 uveitis 10.1
43 lymphocytic leukemia 10.1
44 leukemia 10.1
45 leukemia, acute lymphoblastic 10.1
46 psoriatic arthritis 10.1
47 pernicious anemia 10.1
48 gonadal dysgenesis 10.1
49 laryngomalacia 10.1
50 hypogonadism 10.1

Graphical network of the top 20 diseases related to Alopecia Universalis Congenita:



Diseases related to Alopecia Universalis Congenita

Symptoms & Phenotypes for Alopecia Universalis Congenita

Symptoms via clinical synopsis from OMIM:

57
Hair:
alopecia universalis

Lab:
no hair in hair follicles on skin biopsy


Clinical features from OMIM:

203655

Human phenotypes related to Alopecia Universalis Congenita:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000561
2 absent eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002223
3 alopecia universalis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002289
4 alopecia areata 59 32 hallmark (90%) Very frequent (99-80%) HP:0002229
5 abnormality of metabolism/homeostasis 32 HP:0001939
6 alopecia 32 HP:0001596

MGI Mouse Phenotypes related to Alopecia Universalis Congenita:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 AIRE FOXN1 HLA-DOA HR KDM5A WDR11
2 endocrine/exocrine gland MP:0005379 9.72 AIRE FOXN1 HR KDM5A WDR11
3 liver/biliary system MP:0005370 9.46 AIRE FOXN1 HR WDR11
4 neoplasm MP:0002006 9.26 AIRE FOXN1 HR KDM5A
5 pigmentation MP:0001186 8.8 FOXN1 HR LIPH

Drugs & Therapeutics for Alopecia Universalis Congenita

Search Clinical Trials , NIH Clinical Center for Alopecia Universalis Congenita

Genetic Tests for Alopecia Universalis Congenita

Genetic tests related to Alopecia Universalis Congenita:

# Genetic test Affiliating Genes
1 Alopecia Universalis Congenita 29 HR

Anatomical Context for Alopecia Universalis Congenita

MalaCards organs/tissues related to Alopecia Universalis Congenita:

41
Skin, Thyroid, T Cells, Heart, Breast, Ovary, Prostate

Publications for Alopecia Universalis Congenita

Articles related to Alopecia Universalis Congenita:

(show top 50) (show all 161)
# Title Authors Year
1
Topical 2% tofacitinib for children with alopecia areata, alopecia totalis, and alopecia universalis. ( 29754888 )
2018
2
Risk of sun-induced skin cancers in patients with alopecia areata, alopecia totalis and alopecia universalis. ( 29679494 )
2018
3
Treatment of alopecia universalis with topical Janus kinase inhibitors - a double blind, placebo, and active controlled pilot study. ( 30160787 )
2018
4
Balance of tofacitinib efficacy and disease flare in the treatment of alopecia universalis: A case report and review of the literature. ( 30167448 )
2018
5
Alopecia Universalis and Chronic Graft-vs-Host Disease Treated With Ruxolitinib. ( 30285060 )
2018
6
Alopecia universalis in a patient with rheumatoid arthritis developed during treatment with adalimumab. ( 29744570 )
2018
7
Complete Regrowth of Beard Hair with Ruxolitinib in an Alopecia Universalis Patient. ( 29765973 )
2018
8
Simultaneous improvement of alopecia universalis and atopic dermatitis in a patient treated with a JAK inhibitor. ( 30023415 )
2018
9
A Case Report Highlighting the Effective Treatment of Alopecia Universalis With Tofacitinib in an Adolescent and Adult Patient. ( 29463114 )
2018
10
Alopecia Universalis Associated with Ulcerative Colitis and The Role of Azathioprine. ( 29682249 )
2018
11
Successful treatment of refractory alopecia universalis by persuading a patient not to sleep with her dog. ( 29092781 )
2018
12
Multi-Concentration Level Patch Test Guided Diphenyl Cyclopropenone (DPCP) Treatment in Alopecia Totalis or Alopecia Universalis. ( 29911776 )
2017
13
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings. ( 28839389 )
2017
14
Review of treatment for alopecia totalis and alopecia universalis. ( 28378336 )
2017
15
Experience with oral tofacitinib in 8 adolescent patients with alopecia universalis. ( 28325392 )
2017
16
Excellent response to tofacitinib treatment in a patient with alopecia universalis. ( 28632888 )
2017
17
Treatment of alopecia universalis with oral alitretinoin: A case report. ( 28349112 )
2017
18
Pyridostigmine-Induced Bradycardia in Patient With MuSK-Ab-Positive Myasthenia Gravis and Alopecia Universalis. ( 28827491 )
2017
19
Image Gallery: Treatment of refractory alopecia universalis with oral tofacitinib citrate and adjunct intralesional triamcinolone injections. ( 28581223 )
2017
20
Brazilian Experience of the Treatment of Alopecia Universalis with the Novel Antirheumatic Therapy Tofacitinib: A Case Series. ( 28755063 )
2017
21
Efficacy of superficial cryotherapy on the eyebrows of patients with alopecia universalis also treated with contact immunotherapy on the scalp: a prospective, split-face comparative study. ( 28074525 )
2017
22
Recovery of hair in the psoriatic plaques of a patient with coexistent alopecia universalis. ( 28492603 )
2017
23
Long-Term Prognosis of Alopecia Totalis and Alopecia Universalis: A Longitudinal Study with More than 10 Years of Follow-Up: Better than Reported. ( 28704810 )
2017
24
Alopecia universalis unresponsive to treatment with tofacinitib: report of a case with a brief review of the literature. ( 29469706 )
2017
25
Alopecia Universalis following Alemtuzumab Treatment in Multiple Sclerosis: A Barely Recognized Manifestation of Secondary Autoimmunity-Report of a Case and Review of the Literature. ( 29163335 )
2017
26
Successful hair regrowth in a Korean patient with alopecia universalis following tofacitinib treatment. ( 28536724 )
2017
27
Efficacy of tofacitinib in treatment of alopecia universalis in two patients. ( 27306107 )
2016
28
Tofacitinib Citrate for the Treatment of Nail Dystrophy Associated With Alopecia Universalis. ( 26630079 )
2016
29
Alopecia universalis in a patient with Sheehan's syndrome. ( 26955590 )
2016
30
Reversal of Alopecia Universalis by Tofacitinib: A Case Report. ( 27842401 )
2016
31
Three hundred and eight nanometer excimer light therapy for alopecia universalis that is resistant to other treatments: A clinical study of 11 patients. ( 27130559 )
2016
32
Alopecia universalis in a dog with testicular neoplasia. ( 27644142 )
2016
33
Hirschsprung's disease associated with alopecia universalis congenita: a case report. ( 27633379 )
2016
34
Topical Ruxolitinib for the Treatment of Alopecia Universalis. ( 26649829 )
2016
35
Alopecia universalis as a side effect of pegylated interferon I+-ribavirin combination therapy for hepatitis C: a rare case report. ( 27741937 )
2016
36
Autoimmune Polyglandular Syndrome Type 2 with Alopecia Universalis and Hypoparathyroidism. ( 26591178 )
2015
37
Childhood follicular mucinosis co-existed with alopecia universalis. ( 25958720 )
2015
38
Case of alopecia universalis accompanied by minimal change nephrotic syndrome. ( 26300299 )
2015
39
Alopecia universalis after discontinuation of pegylated interferon and ribavirin combination therapy for hepatitis C: a case report. ( 24558223 )
2014
40
Ruxolitinib-Induced Reversal of Alopecia Universalis in a Patient with Essential Thrombocythemia. ( 25307179 )
2014
41
Killing two birds with one stone: oral tofacitinib reverses alopecia universalis in a patient with plaque psoriasis. ( 24940651 )
2014
42
Alopecia Universalis Successfully Treated With Adalimumab. ( 25322338 )
2014
43
Remission of long-standing alopecia universalis after human immunodeficiency virus infection. ( 24450742 )
2014
44
Biochemical and immunological studies on erythrocytes superoxide dismutase modified by nitric oxide in patients with alopecia areata: Implications in alopecia patchy persistent and alopecia universalis. ( 24694751 )
2014
45
Alopecia universalis, renal stones, and hyperuricemia: a familial or an unfamiliar association. ( 24791244 )
2014
46
Alopecia universalis during treatment with leflunomide and adalimumab - case report. ( 24770511 )
2014
47
Sequential development of psoriasis, alopecia universalis, and vitiligo vulgaris in a human immunodeficiency virus seropositive patient: A unique case report. ( 26396459 )
2014
48
Alopecia universalis associated with cutaneous T cell lymphoma. ( 24821490 )
2014
49
Alopecia universalis associated with vitiligo in an 18-year-old HIV-positive patient: highly active anti-retroviral therapy as first choice therapy? ( 23824261 )
2014
50
Satoyoshi syndrome: a cause of alopecia universalis in association with neurologic and bony abnormalities. ( 22612551 )
2013

Variations for Alopecia Universalis Congenita

UniProtKB/Swiss-Prot genetic disease variations for Alopecia Universalis Congenita:

75
# Symbol AA change Variation ID SNP ID
1 HR p.Thr1022Ala VAR_005266 rs7014851
2 HR p.Val1136Asp VAR_005267 rs121434448
3 HR p.Asp1012Asn VAR_016222 rs121434451

ClinVar genetic disease variations for Alopecia Universalis Congenita:

6 (show top 50) (show all 185)
# Gene Variation Type Significance SNP ID Assembly Location
1 HR NM_005144.4(HR): c.3064A> G (p.Thr1022Ala) single nucleotide variant Benign rs7014851 GRCh37 Chromosome 8, 21976710: 21976710
2 HR NM_005144.4(HR): c.3064A> G (p.Thr1022Ala) single nucleotide variant Benign rs7014851 GRCh38 Chromosome 8, 22119197: 22119197
3 HR NM_005144.4(HR): c.3407T> A (p.Val1136Asp) single nucleotide variant Pathogenic rs121434448 GRCh37 Chromosome 8, 21973913: 21973913
4 HR NM_005144.4(HR): c.3407T> A (p.Val1136Asp) single nucleotide variant Pathogenic rs121434448 GRCh38 Chromosome 8, 22116400: 22116400
5 HR HR, IVS12DS, G-A, +1 single nucleotide variant Pathogenic
6 HR NM_005144.4(HR): c.3034G> A (p.Asp1012Asn) single nucleotide variant Pathogenic rs121434451 GRCh37 Chromosome 8, 21976740: 21976740
7 HR NM_005144.4(HR): c.3034G> A (p.Asp1012Asn) single nucleotide variant Pathogenic rs121434451 GRCh38 Chromosome 8, 22119227: 22119227
8 HR NM_005144.4(HR): c.*931T> C single nucleotide variant Likely benign rs76436208 GRCh38 Chromosome 8, 22114769: 22114769
9 HR NM_005144.4(HR): c.*931T> C single nucleotide variant Likely benign rs76436208 GRCh37 Chromosome 8, 21972282: 21972282
10 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh37 Chromosome 8, 21972462: 21972462
11 HR NM_005144.4(HR): c.*751G> C single nucleotide variant Uncertain significance rs777189827 GRCh38 Chromosome 8, 22114949: 22114949
12 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh37 Chromosome 8, 21972479: 21972479
13 HR NM_005144.4(HR): c.*734G> A single nucleotide variant Uncertain significance rs536800865 GRCh38 Chromosome 8, 22114966: 22114966
14 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh37 Chromosome 8, 21972910: 21972910
15 HR NM_005144.4(HR): c.*303G> A single nucleotide variant Uncertain significance rs181310087 GRCh38 Chromosome 8, 22115397: 22115397
16 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh37 Chromosome 8, 21972973: 21972973
17 HR NM_005144.4(HR): c.*240C> A single nucleotide variant Benign rs6994872 GRCh38 Chromosome 8, 22115460: 22115460
18 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh37 Chromosome 8, 21972995: 21972995
19 HR NM_005144.4(HR): c.*218T> C single nucleotide variant Likely benign rs74869265 GRCh38 Chromosome 8, 22115482: 22115482
20 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh37 Chromosome 8, 21973028: 21973028
21 HR NM_005144.4(HR): c.*185C> G single nucleotide variant Uncertain significance rs886062804 GRCh38 Chromosome 8, 22115515: 22115515
22 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh37 Chromosome 8, 21973033: 21973033
23 HR NM_005144.4(HR): c.*180G> A single nucleotide variant Uncertain significance rs564901808 GRCh38 Chromosome 8, 22115520: 22115520
24 HR NM_005144.4(HR): c.3098-13C> G single nucleotide variant Uncertain significance rs886062806 GRCh37 Chromosome 8, 21976591: 21976591
25 HR NM_005144.4(HR): c.3098-13C> G single nucleotide variant Uncertain significance rs886062806 GRCh38 Chromosome 8, 22119078: 22119078
26 HR NM_005144.4(HR): c.2777-10C> T single nucleotide variant Uncertain significance rs767116700 GRCh37 Chromosome 8, 21977696: 21977696
27 HR NM_005144.4(HR): c.2777-10C> T single nucleotide variant Uncertain significance rs767116700 GRCh38 Chromosome 8, 22120183: 22120183
28 HR NM_005144.4(HR): c.2566C> G (p.Arg856Gly) single nucleotide variant Uncertain significance rs377059643 GRCh37 Chromosome 8, 21978273: 21978273
29 HR NM_005144.4(HR): c.2566C> G (p.Arg856Gly) single nucleotide variant Uncertain significance rs377059643 GRCh38 Chromosome 8, 22120760: 22120760
30 HR NM_005144.4(HR): c.2298G> A (p.Ala766=) single nucleotide variant Uncertain significance rs145225497 GRCh38 Chromosome 8, 22121134: 22121134
31 HR NM_005144.4(HR): c.2298G> A (p.Ala766=) single nucleotide variant Uncertain significance rs145225497 GRCh37 Chromosome 8, 21978647: 21978647
32 HR NM_005144.4(HR): c.2217C> T (p.Ser739=) single nucleotide variant Uncertain significance rs574361484 GRCh38 Chromosome 8, 22121215: 22121215
33 HR NM_005144.4(HR): c.2217C> T (p.Ser739=) single nucleotide variant Uncertain significance rs574361484 GRCh37 Chromosome 8, 21978728: 21978728
34 HR NM_005144.4(HR): c.2212G> A (p.Asp738Asn) single nucleotide variant Uncertain significance rs886062807 GRCh38 Chromosome 8, 22121220: 22121220
35 HR NM_005144.4(HR): c.2212G> A (p.Asp738Asn) single nucleotide variant Uncertain significance rs886062807 GRCh37 Chromosome 8, 21978733: 21978733
36 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh37 Chromosome 8, 21981170: 21981170
37 HR NM_005144.4(HR): c.1907A> G (p.Glu636Gly) single nucleotide variant Uncertain significance rs75362423 GRCh38 Chromosome 8, 22123657: 22123657
38 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh37 Chromosome 8, 21981219: 21981219
39 HR NM_005144.4(HR): c.1858C> G (p.Arg620Gly) single nucleotide variant Uncertain significance rs200843097 GRCh38 Chromosome 8, 22123706: 22123706
40 HR NM_005144.4(HR): c.1360A> G (p.Ile454Val) single nucleotide variant Uncertain significance rs886062809 GRCh37 Chromosome 8, 21984595: 21984595
41 HR NM_005144.4(HR): c.1360A> G (p.Ile454Val) single nucleotide variant Uncertain significance rs886062809 GRCh38 Chromosome 8, 22127082: 22127082
42 HR NM_005144.4(HR): c.1305T> C (p.Phe435=) single nucleotide variant Benign rs12675745 GRCh37 Chromosome 8, 21984650: 21984650
43 HR NM_005144.4(HR): c.1305T> C (p.Phe435=) single nucleotide variant Benign rs12675745 GRCh38 Chromosome 8, 22127137: 22127137
44 HR NM_005144.4(HR): c.1276C> T (p.Pro426Ser) single nucleotide variant Uncertain significance rs151036296 GRCh37 Chromosome 8, 21984679: 21984679
45 HR NM_005144.4(HR): c.1276C> T (p.Pro426Ser) single nucleotide variant Uncertain significance rs151036296 GRCh38 Chromosome 8, 22127166: 22127166
46 HR NM_005144.4(HR): c.188C> G (p.Pro63Arg) single nucleotide variant Likely benign rs73549525 GRCh37 Chromosome 8, 21986496: 21986496
47 HR NM_005144.4(HR): c.188C> G (p.Pro63Arg) single nucleotide variant Likely benign rs73549525 GRCh38 Chromosome 8, 22128983: 22128983
48 HR NM_005144.4(HR): c.120G> A (p.Pro40=) single nucleotide variant Uncertain significance rs757776752 GRCh37 Chromosome 8, 21986564: 21986564
49 HR NM_005144.4(HR): c.120G> A (p.Pro40=) single nucleotide variant Uncertain significance rs757776752 GRCh38 Chromosome 8, 22129051: 22129051
50 HR NM_005144.4(HR): c.-443G> C single nucleotide variant Uncertain significance rs886062812 GRCh38 Chromosome 8, 22130830: 22130830

Expression for Alopecia Universalis Congenita

Search GEO for disease gene expression data for Alopecia Universalis Congenita.

Pathways for Alopecia Universalis Congenita

GO Terms for Alopecia Universalis Congenita

Biological processes related to Alopecia Universalis Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone H3-K9 demethylation GO:0033169 8.96 HR KDM5A
2 thymus epithelium morphogenesis GO:0097536 8.62 AIRE FOXN1

Molecular functions related to Alopecia Universalis Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 histone binding GO:0042393 9.16 AIRE KDM5A
2 chromatin DNA binding GO:0031490 8.96 HR KDM5A
3 histone demethylase activity (H3-K9 specific) GO:0032454 8.62 HR KDM5A

Sources for Alopecia Universalis Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....