Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

onychoheterotopia #10923

Open
AgneseFeresin opened this issue Dec 11, 2024 · 0 comments
Open

onychoheterotopia #10923

AgneseFeresin opened this issue Dec 11, 2024 · 0 comments
Assignees

Comments

@AgneseFeresin
Copy link

Preferred term label: onychoheterotopia

Synonyms ectopic nail ; supernumerary fingernail

Definition (free text, please give PubMed ID) Onychoheterotopia is a rare condition characterized by the presence and development of a complete nail or part of it outside the ungual plate, generally in the finger. Its pathogenesis is unclear, it may be a congenital anomaly (ectopic germinal cells), part of the polydactyly spectrum, or secondary to trauma (traumatic inoculation of oncocytes). It may be resistant to surgical eradication, or managed through surgical resection.

Parent term (use hpo.jax.org/app) Abnormal nail morphology HP:0001597; Abnormal finger morphology HP:0001167

Diseases characterized by this term ? (e.g. Orphanet or OMIM number) 1 reported patient with Stankiewicz-Isidor syndrome (OMIM #617516) related to PSMD12 (OMIM *604450) PMID: 39641441

Your nano-attribution (ORCID)
https://orcid.org/0000-0002-4187-6282

Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Projects
None yet
Development

No branches or pull requests

2 participants