Tunnus
Coronal cleft vertebrae
Frontal schisis (cleft or cleavage) of vertebral bodies.
Kokkuvõte
- Teised nimetused
- coronal cleft of vertebrae, Coronal clefts, Coronal vertebral clefts, Vertebral coronal clefts
- Kehasüsteem
- Abnormality of the musculoskeletal system
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/coronal-cleft-vertebrae.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Coronal cleft vertebrae-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test23 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Achondrogenesis panelReads 3 of these genesCOL2A1SLC26A2TRIP11About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL2A1COL11A2About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- LAMA5-Related Multisystemic SyndromeReads 1 of these genesLAMA5About this report →
Show 19 more reports
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- SLC10A7-Related Skeletal Dysplasia With Amelogenesis ImperfectaReads 1 of these genesSLC10A7About this report →
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsReads 1 of these genesCHST3About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- X-Linked Chondrodysplasia Punctata 1Reads 1 of these genesARSLAbout this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesCOL2A1SLC26A2About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesALDH1A2About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesGNPATAbout this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesHSPA9About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX7About this report →
- Rare Hereditary Peripheral NeuropathiesReads 3 of these genesIARS2TRPV4PEX7About this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Nephrotic SyndromeReads 1 of these genesLAMA5About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesTRPV4About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPEX7About this report →
- Hearing Loss and DeafnessReads 1 of these genesCOL11A2About this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesPEX7About this report →
Lugege välja geenid, mis on seotud Coronal cleft vertebrae-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test18 geeni on seotud tunnusega Coronal cleft vertebrae
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Coronal cleft vertebrae. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| COL2A1collagen type II alpha 1 chain | Alati | Esineb 2 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Alati | Esineb 1 haiguses |
| FLNBfilamin B | Alati | Esineb 3 haiguses |
| GNPATglyceronephosphate O-acyltransferase | Alati | Esineb 1 haiguses |
| HSPA9heat shock protein family A (Hsp70) member 9 | Alati | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMA5laminin subunit alpha 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ARSLarylsulfatase L | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC10A7solute carrier family 10 member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Pole registreeritud | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Pole registreeritud | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
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Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
