Trait

Absent collarbone

Clinical name: Aplastic clavicle

Absence of the clavicles as a developmental defect.

HPO HP:0006660

Also called: Absent clavicles, Aplastic clavicles
Body system: Abnormality of the musculoskeletal system

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/aplastic-clavicle.json"
page <- fromJSON(url)
page$trait$name

Open the JSON

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19 genes linked to Absent collarbone

Changes in these genes cause rare conditions in which Absent collarbone 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
FIG4FIG4 phosphoinositide 5-phosphatase	Very often (80–99%)	In 1 condition
PTDSS1phosphatidylserine synthase 1	Very often (80–99%)	In 1 condition
PTH1Rparathyroid hormone 1 receptor	Very often (80–99%)	In 1 condition
RNU12RNA, U12 small nuclear	Very often (80–99%)	In 1 condition
RNU4ATACRNA, U4atac small nuclear	Very often (80–99%)	In 1 condition
CDC45cell division cycle 45	Often (30–79%)	In 1 condition
CDC6cell division cycle 6	Often (30–79%)	In 1 condition
CDT1chromatin licensing and DNA replication factor 1	Often (30–79%)	In 1 condition
GMNNgeminin DNA replication inhibitor	Often (30–79%)	In 1 condition
ORC1origin recognition complex subunit 1	Often (30–79%)	In 1 condition
ORC4origin recognition complex subunit 4	Often (30–79%)	In 1 condition
ORC6origin recognition complex subunit 6	Often (30–79%)	In 1 condition
PIGLphosphatidylinositol glycan anchor biosynthesis class L	Often (30–79%)	In 1 condition
RUNX2RUNX family transcription factor 2	Often (30–79%)	In 1 condition
ATP7AATPase copper transporting alpha	Sometimes (5–29%)	In 1 condition
CBFBcore-binding factor subunit beta	Sometimes (5–29%)	In 1 condition
KIAA0586KIAA0586	Sometimes (5–29%)	In 1 condition
SALL4spalt like transcription factor 4	Sometimes (5–29%)	In 1 condition
CTSKcathepsin K	Not recorded	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.

Broader traits

Absent/small collarbone

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 2026.10.17-8666dff2.

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