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Term ID: | 10627 |
Name: | Spondyloocular Syndrome, Autosomal Recessive |
Definition: | |
Alternative IDs: | |
ParentIDs: | MESH:D002386|MESH:D010009|MESH:D012163|MESH:D015785|MESH:D019465 |
TreeNumbers: | C05.116.099.708/C565285 |C05.660.207/C565285 |C11.270/C565285 |C11.510.245/C565285 |C11.768.648/C565285 |C16.131.621.207/C565285 |C16.320.290/C565285 |
Synonyms: | |
Slim Mappings: | Congenital abnormality|Eye disease|Genetic disease (inborn)|Musculoskeletal disease |
Reference: |
MedGen: C565285
MeSH: C565285
OMIM: 605822;
Genes: | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_022167.3(XYLT2):c.520delG (p.Ala174Profs) | 64132 | XYLT2 | Pathogenic | 797044807 | RCV000190244; | N | MedGen:C1853925,OMIM:605822,ORPHA:85194 | 17 | 48431375 | 48431375 | NM_022167.3:c.520delG | NP_071450.2:p.Ala174Profs | NC_000017.10:g.48431375delG | OMIM Allelic Variant:608125.0003 | C1853925 605822 Spondyloocular syndrome, autosomal recessive | | | NM_022167.3(XYLT2):c.692dupC (p.Val232Glyfs) | 64132 | XYLT2 | Pathogenic | 797044806 | RCV000190243; | N | MedGen:C1853925,OMIM:605822,ORPHA:85194 | 17 | 48431832 | 48431832 | NM_022167.3:c.692dupC | NP_071450.2:p.Val232Glyfs | NC_000017.10:g.48431832dupC | OMIM Allelic Variant:608125.0002 | C1853925 605822 Spondyloocular syndrome, autosomal recessive | | |
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