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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Short ribs
Reduced rib length.
Santrauka
- Taip pat vadinama
- Hypoplastic ribs, Rib hypoplasia
- Kūno sistema
- Abnormality of the musculoskeletal system
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/short-ribs.json"
page <- fromJSON(url)
page$trait$nameShort ribsHP:0000773
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Short ribs, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test60 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 5 of these genesWDR35IFT43EVCEVC2IFT122About this report →
- Achondrogenesis panelReads 3 of these genesTRIP11COL2A1SLC26A2About this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL11A2COL2A1About this report →
- Syndromic CraniosynostosisReads 6 of these genesFGFR3WDR35IFT43IFT122RNU12SMOAbout this report →
Show 56 more reports
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Asphyxiating Thoracic Dystrophy 2 (IFT80)Reads 1 of these genesIFT80About this report →
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- DesmosterolosisReads 1 of these genesDHCR24About 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 →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- HypophosphatasiaReads 1 of these genesALPLAbout this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- INTU-Related Skeletal CiliopathyReads 1 of these genesINTUAbout this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- LAMA5-Related Multisystemic SyndromeReads 1 of these genesLAMA5About this report →
- Meier-Gorlin Syndrome 3 (ORC6)Reads 1 of these genesORC6About this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- Orofaciodigital Syndrome Type 14Reads 1 of these genesC2CD3About this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About 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 →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeReads 1 of these genesDDR2About this report →
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- Cleidocranial DysplasiaReads 1 of these genesRUNX2About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 2 of these genesCOL2A1SLC26A2About this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesEZH2About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesCEP120KIAA0586CSPP1About this report →
- PancreatitisReads 1 of these genesTRPV6About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesPTCH1SMOAbout this report →
- VitreoretinopathyReads 2 of these genesCOL11A1COL2A1About this report →
- Retinitis PigmentosaReads 3 of these genesIFT140IFT43IFT172About this report →
- Familial HypomagnesemiaReads 1 of these genesTRPV6About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesKIAA0586CSPP1About this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesKIAA0586UBA1CSPP1FIG4VAC14About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesTRPV4FIG4About this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesIFT172About this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesCOL11A2COL11A1About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesSLC35D1ALG12About this report →
- Spinal Muscular AtrophyReads 1 of these genesUBA1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Nephrotic SyndromeReads 1 of these genesLAMA5About this report →
- Thyroid CancerReads 1 of these genesTRPV6About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesVAC14About this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesTRPV4FIG4About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNPTABAbout this report →
- Epilepsy (Full Panel)Reads 1 of these genesFLNAAbout this report →
- Intellectual DisabilityReads 1 of these genesNSDHLAbout this report →
Vienu tyrimu sužinokite genus, susijusius su Short ribs, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test69 genų susiję su Short ribs
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short ribs. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| CEP120centrosomal protein 120 | Visada | 1 ligoje |
| COL11A2collagen type XI alpha 2 chain | Visada | 2 ligose |
| DMRT2doublesex and mab-3 related transcription factor 2 | Visada | 1 ligoje |
| FGF4fibroblast growth factor 4 | Visada | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Visada | 3 ligose |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| LBRlamin B receptor | Visada | 1 ligoje |
| MYF5myogenic factor 5 | Visada | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Visada | 1 ligoje |
| PLCB3phospholipase C beta 3 | Visada | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Visada | 3 ligose |
| TRIP11thyroid hormone receptor interactor 11 | Visada | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Labai dažnai (80–99%) | 2 ligose |
| DYNC2I1dynein 2 intermediate chain 1 | Labai dažnai (80–99%) | 2 ligose |
| DYNC2I2dynein 2 intermediate chain 2 | Labai dažnai (80–99%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Labai dažnai (80–99%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 1 ligoje |
| SLC35D1solute carrier family 35 member D1 | Labai dažnai (80–99%) | 2 ligose |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Labai dažnai (80–99%) | 1 ligoje |
| WDR35WD repeat domain 35 | Labai dažnai (80–99%) | 3 ligose |
| COL2A1collagen type II alpha 1 chain | Dažnai (30–79%) | 3 ligose |
| DYNLT2Bdynein light chain Tctex-type 2B | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
| IFT43intraflagellar transport 43 | Dažnai (30–79%) | 1 ligoje |
| IFT81intraflagellar transport 81 | Dažnai (30–79%) | 1 ligoje |
| KIAA0586KIAA0586 | Dažnai (30–79%) | 2 ligose |
| LAMA5laminin subunit alpha 5 | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 2 ligose |
| UBA1ubiquitin like modifier activating enzyme 1 | Dažnai (30–79%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 2 ligose |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 29 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TRPV6transient receptor potential cation channel subfamily V member 6 | Kartais (5–29%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Neužfiksuota | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Neužfiksuota | 1 ligoje |
| CUL7cullin 7 | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 1 ligoje |
| DDRGK1DDRGK domain containing 1 | Neužfiksuota | 1 ligoje |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Neužfiksuota | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Neužfiksuota | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Neužfiksuota | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Neužfiksuota | 1 ligoje |
| GPX4glutathione peroxidase 4 | Neužfiksuota | 1 ligoje |
| IFT122intraflagellar transport 122 | Neužfiksuota | 1 ligoje |
| IFT172intraflagellar transport 172 | Neužfiksuota | 1 ligoje |
| IHHIndian hedgehog signaling molecule | Neužfiksuota | 1 ligoje |
| INTUinturned planar cell polarity protein | Neužfiksuota | 1 ligoje |
| NEK1NIMA related kinase 1 | Neužfiksuota | 1 ligoje |
| NKX3-2NK3 homeobox 2 | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Neužfiksuota | 1 ligoje |
| PORCNporcupine O-acyltransferase | Neužfiksuota | 1 ligoje |
| PTCH1patched 1 | Neužfiksuota | 1 ligoje |
| RNU12RNA, U12 small nuclear | Neužfiksuota | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Neužfiksuota | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Siauresni požymiai
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.18-8b139e39.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
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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