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Egenskap
Limb undergrowth
Limb shortening because of underdevelopment of one or more bones of the extremities.
Sammendrag
- Også kalt
- limb shortening, Short limb, Short limbs, Hypoplasia involving bones of the extremities
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/limb-undergrowth.json"
page <- fromJSON(url)
page$trait$nameLimb undergrowthHP:0009826
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Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Limb undergrowth, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test30 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 →
- Hereditary Multiple OsteochondromasReads 2 of these genesEXT1EXT2About this report →
- Achondrogenesis panelReads 2 of these genesCOL2A1SLC26A2About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
Show 26 more reports
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- VitreoretinopathyReads 4 of these genesCOL2A1COL9A1COL9A2COL9A3About this report →
- Fibrodysplasia Ossificans ProgressivaReads 1 of these genesGNASAbout 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 →
- 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 →
- 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 →
Les genene knyttet til Limb undergrowth, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test63 gener knyttet til Limb undergrowth
Endringer i disse genene forårsaker sjeldne tilstander der Limb undergrowth 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 |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Alltid | I 2 tilstander |
| B9D1B9 domain containing 1 | Alltid | I 1 tilstand |
| BMPR1Bbone morphogenetic protein receptor type 1B | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Alltid | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Alltid | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Alltid | I 1 tilstand |
| DDRGK1DDRGK domain containing 1 | Alltid | I 2 tilstander |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FLNBfilamin B | Alltid | I 2 tilstander |
| FUT8fucosyltransferase 8 | Alltid | I 1 tilstand |
| GLB1galactosidase beta 1 | Alltid | I 1 tilstand |
| IFT52intraflagellar transport 52 | Alltid | I 1 tilstand |
| IHHIndian hedgehog signaling molecule | Alltid | I 1 tilstand |
| PLCB3phospholipase C beta 3 | Alltid | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Alltid | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Alltid | I 1 tilstand |
| COL10A1collagen type X alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MATN3matrilin 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A1collagen type IX alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| COMPcartilage oligomeric matrix protein | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 1 tilstand |
| LBRlamin B receptor | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 1 tilstand |
| NINninein | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 2 tilstander |
| TONSLtonsoku like, DNA repair protein | Ofte (30–79 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Noen ganger (5–29 %) | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
Vis 23 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| CLTCL1clathrin heavy chain like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Sjelden (1–4%) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Sjelden (1–4%) | I 1 tilstand |
| CD96CD96 molecule | Ikke registrert | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registrert | I 1 tilstand |
| GHRgrowth hormone receptor | Ikke registrert | I 1 tilstand |
| GNASGNAS complex locus | Ikke registrert | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | 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.
Smalere egenskaper
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 2026.10.17-8666dff2.
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