Trait

Abnormal lip

Clinical name: Abnormal lip morphology

An abnormality of the lip.

HPO HP:0000159

Also called: Abnormality of the lip, Anomaly of lip, Deformity of lip, Lip abnormality, Malformation of lip
Body system: Abnormality of head or neck

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-lip-morphology.json"
page <- fromJSON(url)
page$trait$name

Open the JSON

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14 genes linked to Abnormal lip

Changes in these genes cause rare conditions in which Abnormal lip 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
CLEC7AC-type lectin domain containing 7A	Very often (80–99%)	In 1 condition
CPLX1complexin 1	Very often (80–99%)	In 1 condition
CTBP1C-terminal binding protein 1	Very often (80–99%)	In 1 condition
IL17Finterleukin 17F	Very often (80–99%)	In 1 condition
IL17RAinterleukin 17 receptor A	Very often (80–99%)	In 1 condition
IL17RCinterleukin 17 receptor C	Very often (80–99%)	In 1 condition
LETM1leucine zipper and EF-hand containing transmembrane protein 1	Very often (80–99%)	In 1 condition
NELFAnegative elongation factor complex member A	Very often (80–99%)	In 1 condition
NSD2nuclear receptor binding SET domain protein 2	Very often (80–99%)	In 1 condition
PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)	Very often (80–99%)	In 1 condition
RIN2Ras and Rab interactor 2	Very often (80–99%)	In 1 condition
TRAF3IP2TRAF3 interacting protein 2	Very often (80–99%)	In 1 condition
SMAD4SMAD family member 4	Often (30–79%)	In 1 condition
UBE3Bubiquitin protein ligase E3B	Often (30–79%)	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.

Narrower traits

Broader traits

Abnormality of the oral cavity

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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