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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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NTR: spastic tetraplegia, thin corpus callosum, and progressive microcephaly #1291

Closed MonikaTomczuk closed 7 months ago

MonikaTomczuk commented 8 months ago

Hi, Requesting the following for MGI for J:344184 (https://pubmed.ncbi.nlm.nih.gov/37642681/).

Label: spastic tetraplegia, thin corpus callosum, and progressive microcephaly Definition: A neurodevelopmental disorder characterized by onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly and severely impaired global development in early infancy that_has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. Definition ref: https://pubmed.ncbi.nlm.nih.gov/25930971/ and https://pubmed.ncbi.nlm.nih.gov/26138499/
Exact synonym: SPATCCM DbXref: OMIM:616657 Dbxref: ORDO:447997

Thank you, Monika Tomczuk MGI curator

allenbaron commented 8 months ago

Thanks Monika. I'll work to get this out in the next release.