U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Median nodule of the upper lip

MedGen UID:
372034
Concept ID:
C1835396
Disease or Syndrome
Synonym: Lip, median nodule of upper
SNOMED CT: Median nodule of upper lip (722034006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007904
OMIM®: 151630
Orphanet: ORPHA2699

Definition

A minor trait of the lip transmitted in an autosomal dominant fashion. It has been described through several generations from three families in Japan. In all cases the nodule was asymptomatic and strictly isolated. [from SNOMEDCT_US]

Clinical features

From HPO
Abnormality of the mouth
MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
An abnormality of the mouth.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMedian nodule of the upper lip
Follow this link to review classifications for Median nodule of the upper lip in Orphanet.

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...