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Tunnus
Limb undergrowth
Limb shortening because of underdevelopment of one or more bones of the extremities.
Kokkuvõte
- Teised nimetused
- limb shortening, Short limb, Short limbs, Hypoplasia involving bones of the extremities
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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/limb-undergrowth.json"
page <- fromJSON(url)
page$trait$nameLimb undergrowthHP:0009826
AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Limb undergrowth-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test43 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.
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 7 of these genesCOL2A1MATN3SLC26A2COL9A1COL9A2COL9A3About this report →
- Fraser SyndromeReads 3 of these genesFRAS1FREM2GRIP1About this report →
- Hereditary Multiple OsteochondromasReads 2 of these genesEXT1EXT2About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL2A1COL11A2About this report →
Show 39 more reports
- Achondrogenesis panelReads 2 of these genesCOL2A1SLC26A2About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Schmid Metaphyseal ChondrodysplasiaReads 1 of these genesCOL10A1About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- VitreoretinopathyReads 4 of these genesCOL2A1COL9A1COL9A2COL9A3About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Congenital Disorders of GlycosylationReads 7 of these genesFUT8SLC35D1PIGYDPM1EXT2SLC35C1About this report →
- Ehlers-Danlos SyndromeReads 3 of these genesADAMTS2COL1A1COL1A2About this report →
- Syndromic CraniosynostosisReads 3 of these genesIFT52FGFR3FGFR1About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesSLC35C1About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesGNASAbout this report →
- Growth Hormone Insensitivity & IGF-1 Axis DisordersReads 1 of these genesGHRAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesIFT52About this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPHGDHAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesCOL1A1COL1A2About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Meckel SyndromeReads 1 of these genesB9D1About this report →
- Type I InterferonopathiesReads 1 of these genesACP5About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGYAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesTBCKAbout this report →
- Thyroid CancerReads 1 of these genesGNASAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesACP5About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesB9D1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesFGFR1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGLB1About this report →
- Leigh SyndromeReads 1 of these genesPDHA1About this report →
- Hearing Loss and DeafnessReads 1 of these genesCOL11A2About this report →
- Epilepsy (Full Panel)Reads 1 of these genesGAD1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesPDHA1About this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesTBCKAbout this report →
Lugege välja geenid, mis on seotud Limb undergrowth-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test63 geeni on seotud tunnusega Limb undergrowth
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Limb undergrowth. 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 |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Alati | Esineb 2 haiguses |
| B9D1B9 domain containing 1 | Alati | Esineb 1 haiguses |
| BMPR1Bbone morphogenetic protein receptor type 1B | Alati | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Alati | Esineb 1 haiguses |
| COL1A2collagen type I alpha 2 chain | Alati | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Alati | Esineb 1 haiguses |
| DDRGK1DDRGK domain containing 1 | Alati | Esineb 2 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| FLNBfilamin B | Alati | Esineb 2 haiguses |
| FUT8fucosyltransferase 8 | Alati | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Alati | Esineb 1 haiguses |
| IFT52intraflagellar transport 52 | Alati | Esineb 1 haiguses |
| IHHIndian hedgehog signaling molecule | Alati | Esineb 1 haiguses |
| PLCB3phospholipase C beta 3 | Alati | Esineb 1 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Alati | Esineb 1 haiguses |
| SLC35D1solute carrier family 35 member D1 | Alati | Esineb 1 haiguses |
| COL10A1collagen type X alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MATN3matrilin 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADAMTSL2ADAMTS like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL9A1collagen type IX alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL9A2collagen type IX alpha 2 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL9A3collagen type IX alpha 3 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COMPcartilage oligomeric matrix protein | Sageli (30–79%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Sageli (30–79%) | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LBRlamin B receptor | Sageli (30–79%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NINninein | Sageli (30–79%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sageli (30–79%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Sageli (30–79%) | Esineb 2 haiguses |
| TONSLtonsoku like, DNA repair protein | Sageli (30–79%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Mõnikord (5–29%) | Esineb 1 haiguses |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 23 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CLTCL1clathrin heavy chain like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXT1exostosin glycosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAD1glutamate decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC35C1solute carrier family 35 member C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Harva (1–4%) | Esineb 1 haiguses |
| GRIP1glutamate receptor interacting protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| CD96CD96 molecule | Pole registreeritud | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Pole registreeritud | Esineb 1 haiguses |
| GHRgrowth hormone receptor | Pole registreeritud | Esineb 1 haiguses |
| GNASGNAS complex locus | Pole registreeritud | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Pole registreeritud | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | 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 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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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
