MCID: CLF056
MIFTS: 43

Cleft Lip with or Without Cleft Palate

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Cleft Lip with or Without Cleft Palate

Summaries for Cleft Lip with or Without Cleft Palate

MalaCards based summary : Cleft Lip with or Without Cleft Palate, also known as tessier cleft number 1,2, is related to cleft lip/palate-ectodermal dysplasia syndrome and branchiooculofacial syndrome. An important gene associated with Cleft Lip with or Without Cleft Palate is CTNND1 (Catenin Delta 1), and among its related pathways/superpathways are Cell junction organization and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include whole blood, eye and b lymphoblasts, and related phenotypes are non-midline cleft lip and hearing impairment

Related Diseases for Cleft Lip with or Without Cleft Palate

Diseases related to Cleft Lip with or Without Cleft Palate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 32.0 NECTIN1 IRF6 FOXE1
2 branchiooculofacial syndrome 31.6 TFAP2A MSX1 IRF6 BMP4
3 cleft lip and alveolus 31.1 NECTIN1 MSX1 IRF6
4 popliteal pterygium syndrome 31.0 TFAP2A NECTIN1 MSX1 IRF6 FOXE1 ARHGAP29
5 van der woude syndrome 1 30.6 TFAP2A TBX10 NECTIN1 MSX1 IRF6 FOXE1
6 ectodermal dysplasia 30.6 NECTIN1 MSX1 CTNND1 CDH1
7 tooth size 30.5 MSX1 BMP4
8 isolated cleft lip 30.4 TBX10 NECTIN1 MSX1 IRF6 FOXE1
9 cleft palate, isolated 30.1 TGFA TFAP2A TBX10 NECTIN1 MTHFR MSX1
10 cleft lip/palate 30.0 TGFA NECTIN1 MTHFR MSX1 IRF6 FOXE1
11 tooth agenesis 29.2 TGFA NTN1 NECTIN1 MSX1 IRF6 CTNND1
12 orofacial cleft 28.6 TGFA TFAP2A TBX10 OFC1 NECTIN1 MTHFR
13 cleft lip 27.8 TMX2-CTNND1 TGFA TFAP2A TBX10 PLEKHA7 PLEKHA5
14 orofacial cleft 11 11.9
15 orofacial cleft 1 11.9
16 orofacial cleft 5 11.8
17 orofacial cleft 10 11.8
18 orofacial cleft 8 11.8
19 orofacial cleft 3 11.7
20 orofacial cleft 2 11.7
21 orofacial cleft 6 11.7
22 orofacial cleft 12 11.7
23 orofacial cleft 4 11.7
24 gastric cancer, hereditary diffuse 11.7
25 orofacial cleft 9 11.7
26 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 11.5
27 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.5
28 patau syndrome 11.4
29 roberts-sc phocomelia syndrome 11.4
30 orofacial clefting syndrome 10.8
31 neural tube defects 10.6
32 hand skill, relative 10.5
33 fibrosarcoma 10.5
34 facial cleft 10.4
35 hair whorl 10.3
36 split-hand/foot malformation 1 10.3
37 down syndrome 10.3
38 lip prints 10.3
39 opitz gbbb syndrome, type i 10.3
40 diffuse gastric cancer 10.3
41 common cold 10.3
42 heart disease 10.3
43 dyslexia 10.3
44 holoprosencephaly 10.3
45 rubella 10.3
46 toxoplasmosis 10.3
47 chromosomal triplication 10.3
48 cytomegalic inclusion disease 10.3
49 isolated split hand-split foot malformation 10.3
50 euryblepharon 10.3 CTNND1 CDH1

Graphical network of the top 20 diseases related to Cleft Lip with or Without Cleft Palate:



Diseases related to Cleft Lip with or Without Cleft Palate

Symptoms & Phenotypes for Cleft Lip with or Without Cleft Palate

Human phenotypes related to Cleft Lip with or Without Cleft Palate:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 non-midline cleft lip 58 31 obligate (100%) Obligate (100%) HP:0100335
2 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
3 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
4 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
5 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
6 chronic sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011109
7 non-midline cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0100338
8 submucous cleft of soft and hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0410031
9 median cleft lip 58 Excluded (0%)
10 median cleft lip and palate 58 Excluded (0%)

MGI Mouse Phenotypes related to Cleft Lip with or Without Cleft Palate:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ARHGAP29 BMP4 CDH1 ESRP2 FOXE1 IRF6
2 digestive/alimentary MP:0005381 10.17 ARHGAP29 BMP4 CDH1 CTNND1 ESRP2 FOXE1
3 craniofacial MP:0005382 10.16 ARHGAP29 BMP4 ESRP2 FOXE1 IRF6 MSX1
4 endocrine/exocrine gland MP:0005379 10.1 BMP4 CDH1 CTNND1 ESRP2 FOXE1 MSX1
5 integument MP:0010771 10.07 BMP4 CDH1 CTNND1 ESRP2 FOXE1 IRF6
6 hearing/vestibular/ear MP:0005377 9.87 ARHGAP29 BMP4 IRF6 MSX1 NTN1 TBX10
7 mortality/aging MP:0010768 9.83 ARHGAP29 BMP4 CDH1 CTNND1 ESRP2 FOXE1
8 limbs/digits/tail MP:0005371 9.63 BMP4 ESRP2 IRF6 MSX1 MTHFR TFAP2A
9 vision/eye MP:0005391 9.23 BMP4 CTNND1 MSX1 MTHFR NECTIN1 TBX10

Drugs & Therapeutics for Cleft Lip with or Without Cleft Palate

Search Clinical Trials , NIH Clinical Center for Cleft Lip with or Without Cleft Palate

Genetic Tests for Cleft Lip with or Without Cleft Palate

Anatomical Context for Cleft Lip with or Without Cleft Palate

MalaCards organs/tissues related to Cleft Lip with or Without Cleft Palate:

40
Whole Blood, Eye, B Lymphoblasts, Endothelial

Publications for Cleft Lip with or Without Cleft Palate

Articles related to Cleft Lip with or Without Cleft Palate:

(show top 50) (show all 1082)
# Title Authors PMID Year
1
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. 6 61
29805042 2018
2
Genetic variations at 10q26 regions near FGFR2 gene and its association with non-syndromic cleft lip with or without cleft palate. 61
33684891 2021
3
Study on the role of methylation in nonsyndromic cleft lip with or without cleft palate using a monozygotic twin model. 61
33667834 2021
4
Maternal Vitamin B12 Status and Risk of Cleft Lip and Cleft Palate Birth Defects in Tamil Nadu State, India. 61
33686867 2021
5
Fistula incidence after primary repair and correlation with cleft width-to-palatum width ratio: A prospective cohort study. 61
33717475 2021
6
The Use of Crowdsourcing Technology to Evaluate Preoperative Severity in Patients With Unilateral Cleft Lip in a Multiethnic Population. 61
33704965 2021
7
Does the Initial Width of Cleft Lip Play a Role in the Occurrence of Immediate Local Complications Following Primary Cleft Lip Repairs? 61
33705006 2021
8
Facial malformations, including cleft lip and palate, in wild primates in Paraguay. 61
33675242 2021
9
Machine learning in prediction of genetic risk of nonsyndromic oral clefts in the Brazilian population. 61
32617779 2021
10
Parenting Children With a Cleft Lip With or Without Palate or a Visible Infantile Hemangioma: A Cross-Sectional Study of Distress and Parenting Stress. 61
33583213 2021
11
Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects. 61
33569925 2021
12
Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate. 61
33622322 2021
13
Identification of New miRNA-mRNA Networks in the Development of Non-syndromic Cleft Lip With or Without Cleft Palate. 61
33732700 2021
14
Association between selected alkaline earth elements concentrations in umbilical cord and risk for cleft lip with or without cleft palate. 61
32877786 2021
15
A Retrospective Cohort Study to Evaluate the Association Between Types of Nonsyndromic Oral Clefts and a Child's Gender and Maternal Age. 61
33688478 2021
16
The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation. 61
33692830 2021
17
A Novel IRF6 Variant Detected in a Family With Nonsyndromic Cleft Lip and Palate by Whole Exome Sequencing. 61
33136784 2021
18
5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate. 61
33123371 2020
19
Cleft Care Readability: Can Patients Access Helpful Online Resources? 61
33325255 2020
20
Identification of novel susceptibility loci for non-syndromic cleft lip with or without cleft palate. 61
33108691 2020
21
Association between MAFB rs17820943 and rs6072081 polymorphism and risk of nonsyndromic cleft lip with or without cleft palate: a meta-analysis. 61
32646788 2020
22
Effects of small interfering RNA-mediated silencing of susceptibility genes of non-syndromic cleft lip with or without cleft palate on cell proliferation and migration. 61
33152973 2020
23
Folate intake, markers of folate status and oral clefts: An updated set of systematic reviews and meta-analyses. 61
33118705 2020
24
Comparing autologous versus allogenic rib grafting in pediatric cleft rhinoplasty. 61
32871513 2020
25
The Use of Crowdsourcing Technology to Evaluate Preoperative Severity in Unilateral Cleft Lip Patients in a Multiethnic Population. 61
33186285 2020
26
Integrating GWAS and eQTL to predict genes and pathways for non-syndromic cleft lip with or without palate. 61
33128317 2020
27
Parents of Children With Nonsyndromic Orofacial Clefting Show Altered Palate Shape. 61
33111571 2020
28
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate. 61
32318854 2020
29
Case-Parent Trio Studies in Cleft Lip and Palate. 61
33392609 2020
30
Association of Genetic Polymorphisms of GREM1 Gene with Susceptibility to Non-Syndromic Cleft Lip with or without Cleft Palate in an Iranian Population. 61
31650875 2020
31
The risk of nonsyndromic cleft lip with or without cleft palate and Vax1 rs7078160 polymorphisms in southern Han Chinese. 61
33132092 2020
32
[Exploring parent-of-origin effects for non-syndromic cleft lip with or without cleft palate on PTCH1, PTCH2, SHH, SMO genes in Chinese case-parent trios]. 61
33047712 2020
33
Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile. 61
32533457 2020
34
[Evaluating the effect of WNT pathway genes considering interactions on the risk of non-syndromic oral clefts among Chinese populations]. 61
33047713 2020
35
Serious Game for Teaching Undergraduate Medical Students in Cleft lip and Palate Treatment Protocol. 61
32570197 2020
36
Sociodemographic Factors That Influence the Choice to Pursue Nasoalveolar Molding: One Pediatric Hospital's Experience. 61
32618203 2020
37
Cleft lip/palate and educational attainment: cause, consequence or correlation? A Mendelian randomization study. 61
32373937 2020
38
Comparative evaluation of bone microstructure in alveolar cleft repair by cone beam CT: influence of different autologous donor sites and additional application of β-tricalcium phosphate. 61
31707628 2020
39
Risk of malformation after ondansetron in pregnancy: An updated systematic review and meta-analysis. 61
32420702 2020
40
[Association between platelet-derived growth factor-C single nucleotide polymorphisms and nonsyndromic cleft lip with or without cleft palate in Western Chinese population]. 61
32865352 2020
41
A novel splicing mutation of ARHGAP29 is associated with nonsyndromic cleft lip with or without cleft palate. 61
32698641 2020
42
A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate. 61
32800270 2020
43
Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile. 61
32492698 2020
44
The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts. 61
31950859 2020
45
The impact of family history of non-syndromic oral clefts on their incidence in pregnancy. 61
32367753 2020
46
Maternal-related factors in the origin of isolated cleft palate-A population-based case-control study. 61
31854100 2020
47
Association between forkhead box E1 polymorphisms and risk of non-syndromic cleft lip with or without cleft palate: A meta-analysis. 61
31944555 2020
48
The conserved and divergent roles of Prdm3 and Prdm16 in zebrafish and mouse craniofacial development. 61
32044379 2020
49
An integrative, genomic, transcriptomic and network-assisted study to identify genes associated with human cleft lip with or without cleft palate. 61
32241273 2020
50
The functional variant of NTN1 contributes to the risk of nonsyndromic cleft lip with or without cleft palate. 61
31780810 2020

Variations for Cleft Lip with or Without Cleft Palate

ClinVar genetic disease variations for Cleft Lip with or Without Cleft Palate:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs) Deletion Pathogenic 834013 GRCh37: 11:57564445-57564446
GRCh38: 11:57796973-57796974
2 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.2435+1G>T SNV Pathogenic 834014 GRCh37: 11:57576939-57576939
GRCh38: 11:57809467-57809467
3 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter) SNV Pathogenic 834012 GRCh37: 11:57569255-57569255
GRCh38: 11:57801783-57801783
4 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) SNV Likely pathogenic 800854 rs1591672193 GRCh37: 11:57578892-57578892
GRCh38: 11:57811420-57811420
5 ESRP2 NM_024939.3(ESRP2):c.944G>A (p.Arg315His) SNV Likely pathogenic 834037 GRCh37: 16:68266284-68266284
GRCh38: 16:68232381-68232381
6 ESRP2 NM_024939.3(ESRP2):c.1558C>T (p.Arg520Ter) SNV Likely pathogenic 834038 GRCh37: 16:68265234-68265234
GRCh38: 16:68231331-68231331
7 CDH1 NM_004360.5(CDH1):c.768T>A (p.Asn256Lys) SNV Likely pathogenic 834044 GRCh37: 16:68844180-68844180
GRCh38: 16:68810277-68810277
8 CDH1 NM_004360.5(CDH1):c.1766A>T (p.Asn589Ile) SNV Likely pathogenic 834045 GRCh37: 16:68855958-68855958
GRCh38: 16:68822055-68822055
9 CDH1 NM_004360.5(CDH1):c.2426_2427del (p.Asn809fs) Deletion Likely pathogenic 834046 GRCh37: 16:68863687-68863688
GRCh38: 16:68829784-68829785
10 CDH1 NM_004360.5(CDH1):c.752C>T (p.Thr251Met) SNV Likely pathogenic 834042 GRCh37: 16:68844164-68844164
GRCh38: 16:68810261-68810261
11 CDH1 NM_004360.5(CDH1):c.760G>A (p.Asp254Asn) SNV Likely pathogenic 834043 GRCh37: 16:68844172-68844172
GRCh38: 16:68810269-68810269
12 CDH1 NM_004360.5(CDH1):c.1489G>A (p.Glu497Lys) SNV Likely pathogenic 560365 rs1567508990 GRCh37: 16:68849586-68849586
GRCh38: 16:68815683-68815683
13 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly) SNV Likely pathogenic 834015 GRCh37: 11:57571168-57571168
GRCh38: 11:57803696-57803696
14 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe) SNV Likely pathogenic 834016 GRCh37: 11:57572202-57572202
GRCh38: 11:57804730-57804730
15 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp) SNV Likely pathogenic 834017 GRCh37: 11:57573381-57573381
GRCh38: 11:57805909-57805909
16 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.2088G>T (p.Trp696Cys) SNV Likely pathogenic 834018 GRCh37: 11:57575761-57575761
GRCh38: 11:57808289-57808289
17 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu) SNV Likely pathogenic 834019 GRCh37: 11:57559005-57559005
GRCh38: 11:57791533-57791533
18 PLEKHA7 NM_001329630.2(PLEKHA7):c.1631G>A (p.Gly544Asp) SNV Likely pathogenic 834022 GRCh37: 11:16838582-16838582
GRCh38: 11:16817035-16817035
19 PLEKHA7 NM_001329630.2(PLEKHA7):c.1537C>T (p.Arg513Trp) SNV Likely pathogenic 834023 GRCh37: 11:16838676-16838676
GRCh38: 11:16817129-16817129
20 PLEKHA7 NM_001329630.2(PLEKHA7):c.1985A>G (p.Asp662Gly) SNV Likely pathogenic 834024 GRCh37: 11:16834682-16834682
GRCh38: 11:16813135-16813135
21 PLEKHA5 NM_001256470.2(PLEKHA5):c.1787A>G (p.Tyr596Cys) SNV Likely pathogenic 834028 GRCh37: 12:19440414-19440414
GRCh38: 12:19287480-19287480
22 PLEKHA5 NM_001256470.2(PLEKHA5):c.1249A>G (p.Met417Val) SNV Uncertain significance 834029 GRCh37: 12:19427853-19427853
GRCh38: 12:19274919-19274919
23 PLEKHA5 NM_001256470.2(PLEKHA5):c.3044T>G (p.Val1015Gly) SNV Uncertain significance 834030 GRCh37: 12:19506842-19506842
GRCh38: 12:19353908-19353908
24 PLEKHA5 NM_001256470.2(PLEKHA5):c.3119A>T (p.Lys1040Met) SNV Uncertain significance 834035 GRCh37: 12:19506917-19506917
GRCh38: 12:19353983-19353983
25 PLEKHA5 NM_001256470.2(PLEKHA5):c.1660G>A (p.Gly554Arg) SNV Uncertain significance 834036 GRCh37: 12:19436560-19436560
GRCh38: 12:19283626-19283626
26 PLEKHA7 NM_001329630.2(PLEKHA7):c.53G>T (p.Gly18Val) SNV Uncertain significance 834025 GRCh37: 11:17035896-17035896
GRCh38: 11:17014349-17014349
27 PLEKHA7 NM_001329630.2(PLEKHA7):c.643G>A (p.Val215Met) SNV Uncertain significance 834026 GRCh37: 11:16872791-16872791
GRCh38: 11:16851244-16851244
28 PLEKHA7 NM_001329630.2(PLEKHA7):c.914A>T (p.Asn305Ile) SNV Uncertain significance 834027 GRCh37: 11:16848096-16848096
GRCh38: 11:16826549-16826549
29 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.1721A>G (p.Lys574Arg) SNV Uncertain significance 834020 GRCh37: 11:57572251-57572251
GRCh38: 11:57804779-57804779
30 TMX2-CTNND1 , CTNND1 NM_001085458.2(CTNND1):c.1687C>G (p.Gln563Glu) SNV Uncertain significance 834021 GRCh37: 11:57572217-57572217
GRCh38: 11:57804745-57804745
31 ESRP2 NM_024939.3(ESRP2):c.749G>A (p.Arg250Gln) SNV Uncertain significance 834039 GRCh37: 16:68266552-68266552
GRCh38: 16:68232649-68232649
32 ESRP2 NM_024939.3(ESRP2):c.1523C>T (p.Ser508Leu) SNV Uncertain significance 834040 GRCh37: 16:68265269-68265269
GRCh38: 16:68231366-68231366
33 ESRP2 NM_024939.3(ESRP2):c.1636_1638GAG[1] (p.Glu547del) Microsatellite Uncertain significance 834041 GRCh37: 16:68265151-68265153
GRCh38: 16:68231248-68231250

Expression for Cleft Lip with or Without Cleft Palate

Search GEO for disease gene expression data for Cleft Lip with or Without Cleft Palate.

GO Terms for Cleft Lip with or Without Cleft Palate

Cellular components related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical junction complex GO:0043296 9.16 NECTIN1 CDH1
2 zonula adherens GO:0005915 8.96 PLEKHA7 CTNND1
3 adherens junction GO:0005912 8.92 PLEKHA7 NECTIN1 CTNND1 CDH1

Biological processes related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 TFAP2A IRF6 FOXE1 CDH1 BMP4
2 cell-cell adhesion GO:0098609 9.56 NTN1 NECTIN1 CTNND1 CDH1
3 camera-type eye morphogenesis GO:0048593 9.55 NECTIN1 BMP4
4 positive regulation of epithelial cell proliferation GO:0050679 9.54 TGFA ESRP2 BMP4
5 embryonic morphogenesis GO:0048598 9.52 MSX1 BMP4
6 epithelial tube branching involved in lung morphogenesis GO:0060441 9.51 ESRP2 BMP4
7 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.49 MSX1 BMP4
8 cranial skeletal system development GO:1904888 9.48 IRF6 FOXE1
9 regulation of synapse assembly GO:0051963 9.46 NTN1 NECTIN1
10 cell-cell adhesion mediated by cadherin GO:0044331 9.43 PLEKHA7 CTNND1
11 entry of bacterium into host cell GO:0035635 9.4 CTNND1 CDH1
12 adherens junction organization GO:0034332 9.33 NECTIN1 CTNND1 CDH1
13 BMP signaling pathway involved in heart development GO:0061312 9.32 MSX1 BMP4
14 pituitary gland development GO:0021983 9.13 MSX1 CDH1 BMP4
15 roof of mouth development GO:0060021 8.92 TFAP2A MSX1 IRF6 FOXE1

Molecular functions related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion molecule binding GO:0050839 8.8 NECTIN1 CTNND1 CDH1

Sources for Cleft Lip with or Without Cleft Palate

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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