craniosynostosis |
Disease ID | 55 |
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Disease | craniosynostosis |
Manually Symptom | UMLS | Name(Total Manually Symptoms:19) C2632116 | stenosis C2020541 | strabismus C1963137 | hydrocephalus C1839611 | n syndrome C1704212 | embolism C1532707 | v pattern strabismus C0796110 | w syndrome C0345617 | middle ear tumor C0266463 | lissencephaly C0231243 | early complication C0151740 | raised intracranial pressure C0151740 | intracranial hypertension C0040188 | tic disorders C0038015 | spondyloepiphyseal dysplasia C0025362 | mental retardation C0024141 | le syndrome C0015300 | proptosis C0010278 | premature cranial suture closure C0009951 | convulsions |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C1839611 | n syndrome | 7 C0020255 | hydrocephalus | 3 C0151740 | intracranial hypertension | 2 C0024141 | le syndrome | 1 C0038379 | strabismus | 1 C0015300 | proptosis | 1 C0796110 | w syndrome | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:55) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs10246939 | 24415641 | 5726 | TAS2R38 | umls:C0010278 | BeFree | This study replicates previous work which showed that the coding SNP rs10246939 in the TAS2R38 gene is associated with CRS. | 0.000814326 | 2013 | TAS2R38;OR9A4 | 7 | 141972804 | T | C |
rs121908671 | 15940380 | 4041 | LRP5 | umls:C0010278 | BeFree | A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. | 0.000271442 | 2005 | LRP5 | 11 | 68357801 | G | A |
rs121909627 | 11277076 | 2261 | FGFR3 | umls:C0010278 | BeFree | Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis. | 0.030127505 | 2001 | FGFR1 | 8 | 38424690 | G | C |
rs121909627 | 11277076 | 2263 | FGFR2 | umls:C0010278 | BeFree | Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis. | 0.160071165 | 2001 | FGFR1 | 8 | 38424690 | G | C |
rs121909627 | 11277076 | 2260 | FGFR1 | umls:C0010278 | BeFree | Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis. | 0.014168516 | 2001 | FGFR1 | 8 | 38424690 | G | C |
rs121909627 | 23348274 | 2260 | FGFR1 | umls:C0010278 | BeFree | In addition, the p.P252R mutation in FGFR1 was detected in 1 PS patient with unilateral coronal craniosynostosis expanding the phenotypic spectrum of PS with this particular mutation. | 0.014168516 | 2014 | FGFR1 | 8 | 38424690 | G | C |
rs121909627 | 10942429 | 2260 | FGFR1 | umls:C0010278 | BeFree | Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). | 0.014168516 | 2000 | FGFR1 | 8 | 38424690 | G | C |
rs121913478 | 22585574 | 2263 | FGFR2 | umls:C0010278 | BeFree | Fgfr2+/Y394C mice exhibited epidermal hyperplasia and premature closure of cranial sutures (craniosynostosis) due to abnormal cell proliferation and differentiation. | 0.160071165 | 2012 | FGFR2 | 10 | 121515280 | T | C |
rs121918499 | 24036790 | 2263 | FGFR2 | umls:C0010278 | BeFree | FGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III. | 0.160071165 | 2014 | FGFR2 | 10 | 121520048 | C | G,A |
rs121918501 | 22872266 | 2263 | FGFR2 | umls:C0010278 | BeFree | Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a loss-of-function mechanism in contrast to the frequently reported gain-of-function receptor function associated with mutated FGF receptors in craniosynostosis. | 0.160071165 | 2012 | FGFR2 | 10 | 121520050 | A | G,C |
rs121918502 | 12072807 | 2263 | FGFR2 | umls:C0010278 | BeFree | We report a baby with craniosynostosis and a sacral appendage who has been found to have a Ser351Cys mutation in the fibroblast growth factor receptor 2 gene (FGFR2). | 0.160071165 | 2002 | FGFR2 | 10 | 121517351 | G | C |
rs121918504 | 10951518 | 2263 | FGFR2 | umls:C0010278 | BeFree | A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis? | 0.160071165 | 2000 | FGFR2 | 10 | 121517460 | C | T,A |
rs121918504 | 15282208 | 2263 | FGFR2 | umls:C0010278 | BeFree | In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis. | 0.160071165 | 2004 | FGFR2 | 10 | 121517460 | C | T,A |
rs121918504 | 12357470 | 2263 | FGFR2 | umls:C0010278 | BeFree | A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. | 0.160071165 | 2002 | FGFR2 | 10 | 121517460 | C | T,A |
rs16944 | 20157068 | 3553 | IL1B | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000542884 | 2010 | IL1B | 2 | 112837290 | A | G |
rs16944 | 20157068 | 7124 | TNF | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000814326 | 2010 | IL1B | 2 | 112837290 | A | G |
rs17561 | 20157068 | 3553 | IL1B | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000542884 | 2010 | IL1A | 2 | 112779646 | C | A |
rs17561 | 20157068 | 7124 | TNF | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000814326 | 2010 | IL1A | 2 | 112779646 | C | A |
rs1800629 | 20157068 | 7124 | TNF | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000814326 | 2010 | TNF | 6 | 31575254 | G | A |
rs1800629 | 20157068 | 3553 | IL1B | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000542884 | 2010 | TNF | 6 | 31575254 | G | A |
rs2917454 | 24595210 | 56479 | KCNQ5 | umls:C0010278 | BeFree | In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS. | 0.000271442 | 2014 | KCNMA1 | 10 | 77132657 | T | C |
rs2917454 | 24595210 | 3778 | KCNMA1 | umls:C0010278 | BeFree | In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS. | 0.000271442 | 2014 | KCNMA1 | 10 | 77132657 | T | C |
rs361525 | 20157068 | 7124 | TNF | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000814326 | 2010 | TNF | 6 | 31575324 | G | A |
rs361525 | 20157068 | 3553 | IL1B | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000542884 | 2010 | TNF | 6 | 31575324 | G | A |
rs373496046 | 22038757 | 2261 | FGFR3 | umls:C0010278 | BeFree | Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. | 0.030127505 | 2011 | FGFR3 | 4 | 1803761 | G | A |
rs386543959 | 20157068 | 7124 | TNF | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000814326 | 2010 | NA | NA | NA | NA | NA |
rs386543959 | 20157068 | 3553 | IL1B | umls:C0010278 | BeFree | To replicate and extend recent findings in a Turkish population of associations between chronic rhinosinusitis (CRS) with nasal polyposis and single-nucleotide polymorphisms (SNPs) in the IL1A (rs17561 and Ser114Ala), IL1B (rs16944), and TNF (rs361525 and rs1800629) genes. | 0.000542884 | 2010 | NA | NA | NA | NA | NA |
rs4647924 | 15915095 | 2261 | FGFR3 | umls:C0010278 | BeFree | FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. | 0.030127505 | 2005 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 9107244 | 2261 | FGFR3 | umls:C0010278 | BeFree | Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. | 0.030127505 | 1997 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 17103449 | 2261 | FGFR3 | umls:C0010278 | BeFree | P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. | 0.030127505 | 2006 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 18818193 | 2261 | FGFR3 | umls:C0010278 | BeFree | The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome. | 0.030127505 | 2009 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 22872265 | 2261 | FGFR3 | umls:C0010278 | BeFree | The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. | 0.030127505 | 2012 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 15915095 | 57492 | ARID1B | umls:C0010278 | BeFree | FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. | 0.001085767 | 2005 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 9600744 | 2261 | FGFR3 | umls:C0010278 | BeFree | We compare the clinical characteristics of previously reported cases of this unique Pro250Arg mutation with those of two additional families and suggest that this syndrome with a unique mutational basis be designated coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene, to emphasize the distinctive findings which may be present even in the absence of coronal craniosynostosis. | 0.030127505 | 1998 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 21403557 | 2261 | FGFR3 | umls:C0010278 | BeFree | The Pro250Arg mutation in the FGFR3 gene is found in patients with Muenke syndrome and is one of the most frequently encountered mutations in craniosynostosis syndromes. | 0.030127505 | 2011 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 9279764 | 57492 | ARID1B | umls:C0010278 | BeFree | Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. | 0.001085767 | 1997 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 9950359 | 2261 | FGFR3 | umls:C0010278 | BeFree | A recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal craniosynostosis and has allowed definition of a new syndrome on a molecular basis. | 0.030127505 | 1999 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 20707699 | 2261 | FGFR3 | umls:C0010278 | BeFree | We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes. | 0.030127505 | 2010 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 9279764 | 2261 | FGFR3 | umls:C0010278 | BeFree | Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. | 0.030127505 | 1997 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 17103449 | 57492 | ARID1B | umls:C0010278 | BeFree | P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. | 0.001085767 | 2006 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 11467490 | 2261 | FGFR3 | umls:C0010278 | BeFree | New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis. | 0.030127505 | 2001 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 10761652 | 2261 | FGFR3 | umls:C0010278 | BeFree | A recurrent point mutation in the fibroblast growth factor receptor 3 gene that converts proline 250 into arginine has been reported recently in cases of apparently nonsyndromic coronal craniosynostosis. | 0.030127505 | 2000 | FGFR3 | 4 | 1801844 | C | G |
rs4647924 | 9279753 | 2261 | FGFR3 | umls:C0010278 | BeFree | Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. | 0.030127505 | 1997 | FGFR3 | 4 | 1801844 | C | G |
rs6907229 | 24595210 | 3778 | KCNMA1 | umls:C0010278 | BeFree | In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS. | 0.000271442 | 2014 | KCNQ5 | 6 | 73174426 | C | T |
rs6907229 | 24595210 | 56479 | KCNQ5 | umls:C0010278 | BeFree | In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS. | 0.000271442 | 2014 | KCNQ5 | 6 | 73174426 | C | T |
rs77543610 | 15310757 | 2263 | FGFR2 | umls:C0010278 | BeFree | Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. | 0.160071165 | 2004 | FGFR2 | 10 | 121520160 | G | C |
rs77543610 | 11277076 | 2260 | FGFR1 | umls:C0010278 | BeFree | Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis. | 0.014168516 | 2001 | FGFR2 | 10 | 121520160 | G | C |
rs77543610 | 11277076 | 2263 | FGFR2 | umls:C0010278 | BeFree | Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis. | 0.160071165 | 2001 | FGFR2 | 10 | 121520160 | G | C |
rs77543610 | 11277076 | 2261 | FGFR3 | umls:C0010278 | BeFree | Pro-->Arg substitutions equivalent the Pro253Arg/FGFR2 mutation occur in both FGFR1 and FGFR3, and are also associated with craniosynostosis. | 0.030127505 | 2001 | FGFR2 | 10 | 121520160 | G | C |
rs77543610 | 18242159 | 2263 | FGFR2 | umls:C0010278 | BeFree | Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2). | 0.160071165 | 2008 | FGFR2 | 10 | 121520160 | G | C |
rs77543610 | 24580805 | 2263 | FGFR2 | umls:C0010278 | BeFree | Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes. | 0.160071165 | 2014 | FGFR2 | 10 | 121520160 | G | C |
rs79184941 | 11341328 | 2263 | FGFR2 | umls:C0010278 | BeFree | Role of N-cadherin and protein kinase C in osteoblast gene activation induced by the S252W fibroblast growth factor receptor 2 mutation in Apert craniosynostosis. | 0.160071165 | 2001 | FGFR2 | 10 | 121520163 | G | C,A |
rs79184941 | 15310757 | 2263 | FGFR2 | umls:C0010278 | BeFree | Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation. | 0.160071165 | 2004 | FGFR2 | 10 | 121520163 | G | C,A |
rs79184941 | 18242159 | 2263 | FGFR2 | umls:C0010278 | BeFree | Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2). | 0.160071165 | 2008 | FGFR2 | 10 | 121520163 | G | C,A |
rs79184941 | 24580805 | 2263 | FGFR2 | umls:C0010278 | BeFree | Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes. | 0.160071165 | 2014 | FGFR2 | 10 | 121520163 | G | C,A |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:2) | |||||||||||||||||||||||||||||
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CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
7 | 33256039 | rs10262453 | A | C | rs10262453 | 23160099 | 6.00E-20 | NA | 4.17 | [3.13-5.88] | 130 European ancestry trios | European(130) | ALL(130) | EUR(130) | ALL(130) | Sagittal craniosynostosis | HPOID:0005461 | Craniofacial disproportion | DOID:2340 | craniosynostosis | D003398 | Craniosynostoses | isolated scaphocephaly | Craniosynostosis | rs10262453-A | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
20 | 7106289 | rs1884302 | T | C | rs1884302 | 23160099 | 1.00E-39 | NA | 4.38 | [3.51-5.45] | 130 European ancestry trios | European(130) | ALL(130) | EUR(130) | ALL(130) | Sagittal craniosynostosis | HPOID:0005461 | Craniofacial disproportion | DOID:2340 | craniosynostosis | D003398 | Craniosynostoses | isolated scaphocephaly | Craniosynostosis | rs1884302-C | Research Support, N.I.H., Extramural | Research Support, U.S. Gov't, P.H.S. | Research Support, Non-U.S. Gov't | Research Support, N.I.H., Intramural |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:3) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0010278 | cyclophosphamide | D003520 | 50-18-0 | craniosynostoses | MESH:D003398 | marker/mechanism | 10482872 | ||
C0010278 | phenytoin | D010672 | 57-41-0 | craniosynostoses | MESH:D003398 | marker/mechanism | 7946029 | ||
C0010278 | valproic acid | D014635 | 99-66-1 | craniosynostoses | MESH:D003398 | marker/mechanism | 15123016 |
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |