search

DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
Creative Commons Zero v1.0 Universal
336 stars 109 forks source link

NTR: Zaki Syndrome #1254

Closed MonikaTomczuk closed 11 months ago

MonikaTomczuk commented 11 months ago

Hi Lynn. I would like to request a new term as below for MGI mouse model:

Label: Zaki syndrome Definition: A syndrome characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous mutation in the WLS gene on chromosome 1p31. Definition ref: https://pubmed.ncbi.nlm.nih.gov/34587386/| https://www.ncbi.nlm.nih.gov/medgen/1794247 Parent DO: syndrome DOID:225 DbXref: OMIM:619648

The pubmed link above is also for the mouse model.

Thank you, Monika Tomczuk, Mouse Genome Informatics

allenbaron commented 11 months ago

Thanks Monika! Zaki syndrome will be in the November release.

My apologies for the delayed response.