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Egenskap
Shorter than typical length between neck and abdomen
Klinisk navn: Short thorax
Reduced inferior to superior extent of the thorax.
Sammendrag
- Kroppssystem
- Abnormality of the musculoskeletal system
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library(jsonlite)
url <- "https://dantelabs.com/traits/short-thorax.json"
page <- fromJSON(url)
page$trait$nameHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Shorter than typical length between neck and abdomen, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test41 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.
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 6 of these genesIFT122IFT52EVCEVC2WDR19WDR35About this report →
- Achondrogenesis panelReads 3 of these genesTRIP11COL2A1SLC26A2About this report →
- Syndromic CraniosynostosisReads 6 of these genesIFT122IFT52FGFR3RNU12WDR19WDR35About this report →
- ACAN-Related Short StatureReads 1 of these genesACANAbout this report →
Show 37 more reports
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- Meier-Gorlin Syndrome 3 (ORC6)Reads 1 of these genesORC6About this report →
- NADSYN1-Related Congenital NAD Deficiency (VCRL Syndrome 3)Reads 1 of these genesNADSYN1About this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)Reads 1 of these genesDYNC2I2About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)Reads 1 of these genesDYNC2I1About this report →
- SLC10A7-Related Skeletal Dysplasia With Amelogenesis ImperfectaReads 1 of these genesSLC10A7About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesTBX6About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 1 of these genesCOL2A1About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesCOL2A1SLC26A2About this report →
- Fraser SyndromeReads 1 of these genesFREM2About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRMRPAbout this report →
- Congenital Disorders of GlycosylationReads 5 of these genesHES7DLL3LFNGMESP2RIPPLY2About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 2 of these genesTTC21BWDR19About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Cutis LaxaReads 1 of these genesLTBP1About this report →
- Retinitis PigmentosaReads 2 of these genesIFT140IFT172About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesIFT172About this report →
- VitreoretinopathyReads 1 of these genesCOL2A1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesSLC2A1About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesCEP120About this report →
- Epilepsy (Full Panel)Reads 2 of these genesFLNASLC2A1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesIARS2TRPV4About this report →
- Lysosomal Storage DiseaseReads 1 of these genesNEU1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesTRPV4About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesRMRPAbout this report →
- Intellectual DisabilityReads 1 of these genesMBD5About this report →
Les genene knyttet til Shorter than typical length between neck and abdomen, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test51 gener knyttet til Shorter than typical length between neck and abdomen
Endringer i disse genene forårsaker sjeldne tilstander der Shorter than typical length between neck and abdomen forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Alltid | I 2 tilstander |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alltid | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Alltid | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| IFT122intraflagellar transport 122 | Alltid | I 1 tilstand |
| IFT52intraflagellar transport 52 | Alltid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Alltid | I 2 tilstander |
| ACANaggrecan | Svært ofte (80–99 %) | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Svært ofte (80–99 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Svært ofte (80–99 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| DLL3delta like canonical Notch ligand 3 | Svært ofte (80–99 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DYNC2I1dynein 2 intermediate chain 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DYNC2I2dynein 2 intermediate chain 2 | Svært ofte (80–99 %) | I 2 tilstander |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Svært ofte (80–99 %) | I 2 tilstander |
| EVCEvC ciliary complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Svært ofte (80–99 %) | I 2 tilstander |
| GLI1GLI family zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT172intraflagellar transport 172 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Svært ofte (80–99 %) | I 2 tilstander |
| KIAA0753KIAA0753 | Svært ofte (80–99 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Svært ofte (80–99 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Svært ofte (80–99 %) | I 2 tilstander |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TTC21Btetratricopeptide repeat domain 21B | Svært ofte (80–99 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Svært ofte (80–99 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Svært ofte (80–99 %) | I 1 tilstand |
| CUL7cullin 7 | Ofte (30–79 %) | I 2 tilstander |
Vis 11 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| DYMdymeclin | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Ofte (30–79 %) | I 2 tilstander |
| FREM2FRAS1 related extracellular matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IHHIndian hedgehog signaling molecule | Noen ganger (5–29 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NADSYN1NAD synthetase 1 | Ikke registrert | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Ikke registrert | I 1 tilstand |
| SLC10A7solute carrier family 10 member 7 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
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Read the genes behind these traits in your own DNA.
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