Hydrocephalus, congenital, 4

[anna-anagnostop]

Please consider adding a new DO term for:

HYDROCEPHALUS, CONGENITAL, 4
DEF: a congenital hydrocephalus characterized by inadequate passage of cerebrospinal fluid (CSF) from its point of production to its point of absorption, in the absence of obstruction (communicating hydrocephalus) that is caused by heterozygous mutation in the TRIM71 gene on chromosome 3p22
SYNONYMS: HYC4; HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
Alt IDs: OMIM: 618667
Parent terms: autosomal dominant disease (DOID:0050736), communicating hydrocephalus (DOID:1573)
PMID: 29983323 PMCID: PMC7839075 DOI: 10.1016/j.neuron.2018.06.019
PMID: 38833623 PMCID: PMC11629693 DOI: 10.1093/brain/awae175

Thank you!

Anna V. Anagnostopoulos https://orcid.org/0000-0002-6490-7723

[allenbaron]

We will review this request along with the diseases under hydrocephalus (DOID:10908). I'm pretty confident we'll add it, but it will probably be first available in the March release toward the end of that month.

Thanks for the request.