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Tunnus
Short ribs
Reduced rib length.
Kokkuvõte
- Teised nimetused
- Hypoplastic ribs, Rib hypoplasia
- Kehasüsteem
- Abnormality of the musculoskeletal system
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/short-ribs.json"
page <- fromJSON(url)
page$trait$nameShort ribsHP:0000773
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Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Short ribs-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma 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 →
Lugege välja geenid, mis on seotud Short ribs-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test69 geeni on seotud tunnusega Short ribs
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Short ribs. 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 |
|---|---|---|
| CEP120centrosomal protein 120 | Alati | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Alati | Esineb 2 haiguses |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alati | Esineb 1 haiguses |
| FGF4fibroblast growth factor 4 | Alati | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 3 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| LBRlamin B receptor | Alati | Esineb 1 haiguses |
| MYF5myogenic factor 5 | Alati | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Alati | Esineb 1 haiguses |
| PLCB3phospholipase C beta 3 | Alati | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Alati | Esineb 3 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Alati | Esineb 1 haiguses |
| CHD6chromodomain helicase DNA binding protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Väga sageli (80–99%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC35D1solute carrier family 35 member D1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Väga sageli (80–99%) | Esineb 3 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 3 haiguses |
| DYNLT2Bdynein light chain Tctex-type 2B | Sageli (30–79%) | Esineb 1 haiguses |
| GPC3glypican 3 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT81intraflagellar transport 81 | Sageli (30–79%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Sageli (30–79%) | Esineb 2 haiguses |
| LAMA5laminin subunit alpha 5 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| UBA1ubiquitin like modifier activating enzyme 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCARF2scavenger receptor class F member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 29 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| TRPV6transient receptor potential cation channel subfamily V member 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Pole registreeritud | Esineb 1 haiguses |
| CUL7cullin 7 | Pole registreeritud | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| DDRGK1DDRGK domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Pole registreeritud | Esineb 1 haiguses |
| EVCEvC ciliary complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| EVC2EvC ciliary complex subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Pole registreeritud | Esineb 1 haiguses |
| GPX4glutathione peroxidase 4 | Pole registreeritud | Esineb 1 haiguses |
| IFT122intraflagellar transport 122 | Pole registreeritud | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Pole registreeritud | Esineb 1 haiguses |
| IHHIndian hedgehog signaling molecule | Pole registreeritud | Esineb 1 haiguses |
| INTUinturned planar cell polarity protein | Pole registreeritud | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| NKX3-2NK3 homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| ORC6origin recognition complex subunit 6 | Pole registreeritud | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| PTCH1patched 1 | Pole registreeritud | Esineb 1 haiguses |
| RNU12RNA, U12 small nuclear | Pole registreeritud | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Pole registreeritud | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | 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 2026.10.18-8b139e39.
AtlasKellele me abiks olemeMeie 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
