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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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GLUT1 DEFICIENCY SYNDROME 1 #1359

Closed anna-anagnostop closed 5 days ago

anna-anagnostop commented 3 weeks ago

Consider adding new DO term:

DO TERM NAME: GLUT1 DEFICIENCY SYNDROME 1 SUGGESTED DEF: a severe, infantile-onset neurologic disorder characterized by infantile seizures, ataxia, microcephaly, severe mental retardation with learning disabilities, delayed development, hypoglycorrhachia, and other varied symptoms, that has_material_basis_in heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.2. Rare cases caused by homozygous or compound heterozygous mutation in the SLC2A1 gene have been reported. SYN: GLUT1DS1 SUGGESTED PARENT TERMS: autosomal dominant disease (DOID:0050736) PubMed IDs: PMID: 1714544, PMID: 9462754, PMID: 23443458 OMIM #: 606777 (Other entities represented in this entry: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED)

Thank you,

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

allenbaron commented 3 weeks ago

Thanks Anna. We will get this added before the next release.

allenbaron commented 5 days ago

This disease will be in the release today as 'glucose transporter type 1 deficiency syndrome 1' (DOID:0070561).