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Tunnus
Abnormal shape of end part of bone
Kliiniline nimetus: Abnormal epiphysis morphology
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Kokkuvõte
- Teised nimetused
- Abnormality of epiphysis morphology, Abnormality of the epiphyses, Anomaly of the epiphyses, Epiphyseal abnormality
- Kehasüsteem
- Abnormality of the musculoskeletal system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-epiphysis-morphology.json"
page <- fromJSON(url)
page$trait$nameAbnormal shape of end part of boneHP:0005930
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Lugege välja geenid, mis on seotud Abnormal shape of end part of bone-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test90 geeni on seotud tunnusega Abnormal shape of end part of bone
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal shape of end part of bone. 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 |
|---|---|---|
| ACANaggrecan | Väga sageli (80–99%) | Esineb 1 haiguses |
| BMPR1Bbone morphogenetic protein receptor type 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDC45cell division cycle 45 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDC6cell division cycle 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDT1chromatin licensing and DNA replication factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL9A1collagen type IX alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL9A2collagen type IX alpha 2 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL9A3collagen type IX alpha 3 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| GDF5growth differentiation factor 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GMNNgeminin DNA replication inhibitor | Väga sageli (80–99%) | Esineb 1 haiguses |
| HPGD15-hydroxyprostaglandin dehydrogenase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIF1Akinesin family member 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMBR1limb development membrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP13matrix metallopeptidase 13 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MMP9matrix metallopeptidase 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ORC4origin recognition complex subunit 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ORC6origin recognition complex subunit 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCNTpericentrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RETREG1reticulophagy regulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SHOXSHOX homeobox | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNX10sorting nexin 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBX4T-box transcription factor 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGDSTDP-glucose 4,6-dehydratase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 50 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| TYROBPtransmembrane immune signaling adaptor TYROBP | Väga sageli (80–99%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNK1WNK lysine deficient protein kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| DDRGK1DDRGK domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DUOX2dual oxidase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DUOXA2dual oxidase maturation factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Sageli (30–79%) | Esineb 1 haiguses |
| IYDiodotyrosine deiodinase | Sageli (30–79%) | Esineb 1 haiguses |
| LHX3LIM homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| LOXL3lysyl oxidase like 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| PHEXphosphate regulating endopeptidase X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC5A5solute carrier family 5 member 5 | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TGthyroglobulin | Sageli (30–79%) | Esineb 1 haiguses |
| TPOthyroid peroxidase | Sageli (30–79%) | Esineb 1 haiguses |
| TSHBthyroid stimulating hormone subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNBfilamin B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Mõnikord (5–29%) | Esineb 1 haiguses |
| LTBP3latent transforming growth factor beta binding protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRDM5PR/SET domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSHRthyroid stimulating hormone receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF469zinc finger protein 469 | Mõnikord (5–29%) | 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
- Cone-shaped end part of bone66 geeni
- Speckled calcifications in end part of bone34 geeni
- Abnormal development of end part of bone31 geeni
- Delayed maturation of end part of long bone26 geeni
- Small end part of bone20 geeni
- Flat end part of bone17 geeni
- Irregular end part of long bone17 geeni
- Large end part of bone7 geeni
- Increased bone density in end part of bone3 geeni
- Pseudoepiphyses3 geeni
- Abnormal shape of the end part of the vertebra bone2 geeni
- Epiphyseal deformities of tubular bones2 geeni
- Fragmented end part of bone2 geeni
- Absent end part of bone1 geen
- Multinucleated giant chondrocytes in epiphyseal cartilage1 geen
- Splayed end part of bone1 geen
- Abnormal shape of end part of limb bones
- Triangular end part of bone
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 2026.10.16-c6eea6bf.
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Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast