search

monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
236 stars 53 forks source link

Hemihydranencephaly #8311

Closed galyea123 closed 1 week ago

galyea123 commented 2 weeks ago

Label

Hemihydranencephaly

Synonyms

Hemi-hydranencephaly

Synonym type

exact

Definition

Hemi-hydranencephaly is a very rare condition characterized by complete or almost near-complete unilateral absence of the cortical cortex, which is filled by a sac of cerebrospinal fluid. The presumed cause is a prenatal vascular disruption with occlusion of the carotid artery territories ipsilateral to the damaged brain. It is a form of hydranencephaly.

Parent term

Hydranencephaly

Children term(s)

No response

ORCID Identifier

No response

Website URL

https://pmc.ncbi.nlm.nih.gov/articles/PMC3564735/

Additional comments

We had an inquiry from a patient affected with this condition. Note that this is a form of hydranencephaly which is listed already in MONDO (we have a NORD report). The main difference with the hydranencephaly is the better outcome for Hemi-hydranencephaly. Please consider it for inclusion (note that it is not listed in Orphanet but hydranencephaly is); if decided not to list it I will update the NORD report and comment about the different forms. Thank you, Gioconda Alyea

yshwetar commented 1 week ago

We have added the new term hemi-hydraencephaly in #8367. Thank you!

galyea123 commented 1 week ago

[like] Gioconda Alyea reacted to your message:

From: Yousif @.> Sent: Wednesday, November 13, 2024 10:18:06 PM To: monarch-initiative/mondo @.> Cc: Gioconda Alyea @.>; Author @.> Subject: Re: [monarch-initiative/mondo] Hemihydranencephaly (Issue #8311)

We have added the new term hemi-hydraencephaly in #8367https://github.com/monarch-initiative/mondo/pull/8367. Thank you!

— Reply to this email directly, view it on GitHubhttps://github.com/monarch-initiative/mondo/issues/8311#issuecomment-2474937128, or unsubscribehttps://github.com/notifications/unsubscribe-auth/A4QAWD6WCNSGWRGYXZONLST2APFZ5AVCNFSM6AAAAABRJ4I6S2VHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMZDINZUHEZTOMJSHA. You are receiving this because you authored the thread.Message ID: @.***>

Any review, use, distribution or disclosure by others is strictly prohibited.