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Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Tall shaped head
Kliiniline nimetus: Turricephaly
Tall head relative to width and length.
Kokkuvõte
- Teised nimetused
- Tall shaped skull, Tower skull shape, Tall shaped cranium, Tower cranium shape, Turricephalus
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/turricephaly.json"
page <- fromJSON(url)
page$trait$nameTall shaped headHP:0000262
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Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Tall shaped head-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test29 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.
- Syndromic CraniosynostosisReads 9 of these genesFGFR2FGFR3MEGF8RAB23IL11RAMSX2About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- CEBALID Syndrome (MN1)Reads 1 of these genesMN1About this report →
Show 25 more reports
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- ZIC1-Related CraniosynostosisReads 1 of these genesZIC1About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesMSX2About this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 3 of these genesTBCKTRPM3ZFXAbout this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Osteogenesis ImperfectaReads 3 of these genesCRTAPP4HBSEC24DAbout this report →
- Achondrogenesis panelReads 1 of these genesTRIP11About this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Type I InterferonopathiesReads 1 of these genesACP5About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX5About this report →
- Epidermolysis BullosaReads 1 of these genesFERMT1About this report →
- Intellectual DisabilityReads 3 of these genesJMJD1CKDM4BZFXAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesALG14About this report →
- Inherited ThrombocytopeniasReads 1 of these genesGP1BBAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesACP5About this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesSLC12A6TBCKPEX5About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesSLC12A6PEX5About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesSLC12A6About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesPEX5About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesALG14About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesTBX1About this report →
Lugege välja geenid, mis on seotud Tall shaped head-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test40 geeni on seotud tunnusega Tall shaped head
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Tall shaped head. 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 |
|---|---|---|
| TRIP11thyroid hormone receptor interactor 11 | Alati | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| CRTAPcartilage associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GPX4glutathione peroxidase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| MEGF8multiple EGF like domains 8 | Sageli (30–79%) | Esineb 1 haiguses |
| P4HBprolyl 4-hydroxylase subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| SEC24DSEC24 homolog D, COPII component | Sageli (30–79%) | Esineb 2 haiguses |
| WBP4WW domain binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FERMT1FERM domain containing kindlin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| IL11RAinterleukin 11 receptor subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM4Blysine demethylase 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSX2msh homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB34RAB34, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZIC1Zic family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Pole registreeritud | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Pole registreeritud | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | 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.
Kitsamad tunnused
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.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
From traits to your genome
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.
Alates 449 $
Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
