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Egenskap
Small shoulder blade
Klinisk navn: Hypoplastic scapulae
Underdeveloped scapula.
Sammendrag
- Også kalt
- Hypoplastic scapula, Scapular hypoplasia, Short scapulae, Small scapula, Small scapulae
- Kroppssystem
- Abnormality of the musculoskeletal system
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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/hypoplastic-scapulae.json"
page <- fromJSON(url)
page$trait$nameSmall shoulder bladeHP:0000882
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Les genene knyttet til Small shoulder blade, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test36 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.
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL11A2COL2A1About this report →
- Achondrogenesis panelReads 2 of these genesCOL2A1TRIP11About this report →
- Campomelic DysplasiaReads 1 of these genesSOX9About this report →
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIReads 1 of these genesPCNTAbout this report →
Show 32 more reports
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Ulnar-Mammary SyndromeReads 1 of these genesTBX3About this report →
- Cleidocranial DysplasiaReads 1 of these genesRUNX2About this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Syndromic CraniosynostosisReads 3 of these genesPORFGFR1WDR35About 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 →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesTBX5FLNAAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- VitreoretinopathyReads 2 of these genesCOL11A1COL2A1About this report →
- Congenital Adrenal HyperplasiaReads 1 of these genesPORAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR35About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL2A1About this report →
- Type I InterferonopathiesReads 1 of these genesPSMB8About this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesACTBAbout this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Hearing Loss and DeafnessReads 2 of these genesCOL11A1COL11A2About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Inherited ThrombocytopeniasReads 1 of these genesACTBAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPSMB8About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesACTBAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesFGFR1About this report →
- Lysosomal Storage DiseaseReads 1 of these genesGNPTABAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesSLC35D1About this report →
- Epilepsy (Full Panel)Reads 1 of these genesFLNAAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesFIG4About this report →
- Intellectual DisabilityReads 1 of these genesNSDHLAbout this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesFIG4About this report →
Les genene knyttet til Small shoulder blade, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test29 gener knyttet til Small shoulder blade
Endringer i disse genene forårsaker sjeldne tilstander der Small shoulder blade 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 |
|---|---|---|
| ACTBactin beta | Alltid | I 2 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alltid | I 1 tilstand |
| TBX15T-box transcription factor 15 | Alltid | I 2 tilstander |
| TBX5T-box transcription factor 5 | Alltid | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Svært ofte (80–99 %) | I 2 tilstander |
| COL11A1collagen type XI alpha 1 chain | Ofte (30–79 %) | I 3 tilstander |
| COL11A2collagen type XI alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GSCgoosecoid homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Noen ganger (5–29 %) | I 1 tilstand |
| PCNTpericentrin | Noen ganger (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Noen ganger (5–29 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SCARF2scavenger receptor class F member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DYMdymeclin | Ikke registrert | I 2 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Ikke registrert | I 1 tilstand |
| FLNAfilamin A | Ikke registrert | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| TBX3T-box transcription factor 3 | Ikke registrert | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | 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 2026.10.19-9814e911.
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Logg innSpørSekvenser genomet ditt↗
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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