Trait
Abnormality of the shoulder
Clinical name: Abnormal shoulder morphology
An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test17 genes linked to Abnormality of the shoulder
Changes in these genes cause rare conditions in which Abnormality of the shoulder is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| HHAThedgehog acyltransferase | Very often (80–99%) | In 1 condition |
| GDF3growth differentiation factor 3 | Often (30–79%) | In 1 condition |
| GDF6growth differentiation factor 6 | Often (30–79%) | In 1 condition |
| MEOX1mesenchyme homeobox 1 | Often (30–79%) | In 1 condition |
| TRAPPC2trafficking protein particle complex subunit 2 | Often (30–79%) | In 1 condition |
| ANKRD55ankyrin repeat domain 55 | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| CCN6cellular communication network factor 6 | Sometimes (5–29%) | In 1 condition |
| CD247CD247 molecule | Sometimes (5–29%) | In 1 condition |
| IL2RAinterleukin 2 receptor subunit alpha | Sometimes (5–29%) | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Sometimes (5–29%) | In 1 condition |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Sometimes (5–29%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sometimes (5–29%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Sometimes (5–29%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Sometimes (5–29%) | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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