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Tunnus
Abnormality of the palate
Kliiniline nimetus: Abnormal palate morphology
Any abnormality of the palate, i.e., of roof of the mouth.
Kokkuvõte
- Teised nimetused
- Abnormality of the roof of the mouth, Palatal anomaly, Palate abnormality
- Kehasüsteem
- Abnormality of head or neck
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Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-palate-morphology.json"
page <- fromJSON(url)
page$trait$nameAbnormality of the palateHP:0000174
AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Abnormality of the palate-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test38 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.
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Other Inherited LeukodystrophiesReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Burn-McKeown SyndromeReads 1 of these genesTXNL4AAbout this report →
Show 34 more reports
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- GAPO SyndromeReads 1 of these genesANTXR1About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- Rare Hereditary Peripheral NeuropathiesReads 15 of these genesATP7APEX1PEX10PEX11BPEX12PEX13About this report →
- Inherited Neurodegenerative DisordersReads 17 of these genesATP7APEX1PEX10PEX11BPEX12PEX13About this report →
- Congenital Muscular DystrophiesReads 4 of these genesCOL12A1COL6A1COL6A2COL6A3About this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT1About this report →
- Syndromic CraniosynostosisReads 3 of these genesRNU12FGFR2FGFR3About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesCOL6A1COL6A2COL6A3About this report →
- Noonan SyndromeReads 2 of these genesPPP1CBSHOC2About this report →
- Cornelia de Lange SyndromeReads 1 of these genesRAD21About this report →
- Hereditary Orofacial CleftingReads 1 of these genesTBX22About this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesNLRP3About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesTUBG1About this report →
- Hypertrophic CardiomyopathyReads 2 of these genesPPP1CBSHOC2About this report →
- Cutis LaxaReads 1 of these genesATP7AAbout this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesATP7AFIG4About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL12A1About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesTUBG1About this report →
- Intellectual DisabilityReads 3 of these genesTCF4DDX3XSIN3AAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesBCORAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesATP7AAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Diabetes MellitusReads 1 of these genesZBTB20About this report →
- Inherited ThrombocytopeniasReads 1 of these genesFLI1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesCOL6A3About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesPEX6About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesNIPA1About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesRMRPAbout this report →
Lugege välja geenid, mis on seotud Abnormality of the palate-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test48 geeni on seotud tunnusega Abnormality of the palate
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormality of the palate. 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 |
|---|---|---|
| ATP7AATPase copper transporting alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL6A2collagen type VI alpha 2 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL6A3collagen type VI alpha 3 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU12RNA, U12 small nuclear | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BCORBCL6 corepressor | Sageli (30–79%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM1Alysine demethylase 1A | Sageli (30–79%) | Esineb 1 haiguses |
| NIPA1NIPA magnesium transporter 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NIPA2NIPA magnesium transporter 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX22T-box transcription factor 22 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM33tripartite motif containing 33 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBG1tubulin gamma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXT1exostosin glycosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NLRP3NLR family pyrin domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 8 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| POLR1ARNA polymerase I subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TXNL4Athioredoxin like 4A | Mõnikord (5–29%) | 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 abi osutameMeie 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.
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