AtlasTræk
Short calf bone
Klinisk navn: Fibular hypoplasia
Underdevelopment of the fibula.
Resumé
- Også kaldet
- Hypoplastic fibula, Short fibula, Short fibulae
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/fibular-hypoplasia.json"
page <- fromJSON(url)
page$trait$nameLæs de gener, der er knyttet til Short calf bone, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test21 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.
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- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
Show 17 more reports
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
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- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)Reads 1 of these genesSF3B4About this report →
- SHOX Deficiency (Leri-Weill and Langer Dysplasia)Reads 1 of these genesSHOXAbout this report →
- Achondrogenesis panelReads 1 of these genesGDF5About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesGDF5About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesIFT122About this report →
- Kidney CancerReads 1 of these genesMETAbout this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Urinary and Renal System TumourReads 1 of these genesMETAbout this report →
- OsteopetrosisReads 1 of these genesAMER1About this report →
- Syndromic CraniosynostosisReads 1 of these genesIFT122About this report →
- Hearing Loss and DeafnessReads 2 of these genesMETCOL11A1About this report →
- VitreoretinopathyReads 1 of these genesCOL11A1About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesCEP120About this report →
- Retinitis PigmentosaReads 1 of these genesIFT140About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesSLC35D1About this report →
Læs de gener, der er knyttet til Short calf bone, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test23 gener knyttet til Short calf bone
Ændringer i disse gener forårsager sjældne tilstande, hvor Short calf bone ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GDF5growth differentiation factor 5 | Altid | I 4 tilstande |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Altid | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Meget ofte (80–99 %) | I 2 tilstande |
| INPPL1inositol polyphosphate phosphatase like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Meget ofte (80–99 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Meget ofte (80–99 %) | I 2 tilstande |
| AFF3ALF transcription elongation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| BMPR1Bbone morphogenetic protein receptor type 1B | Ofte (30–79 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 2 tilstande |
| SF3B4splicing factor 3b subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ofte (30–79 %) | I 2 tilstande |
| AFF4ALF transcription elongation factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BHLHA9basic helix-loop-helix family member a9 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| METMET proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ikke registreret | I 1 tilstand |
| GPC6glypican 6 | Ikke registreret | I 1 tilstand |
| IFT122intraflagellar transport 122 | Ikke registreret | I 1 tilstand |
| SHOXSHOX homeobox | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.19-9814e911.
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Gratis forsendelse · Resultater på 6–8 uger
