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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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typo in my request percolated into term, very sorry! #1220

Closed vjenkinsFB closed 12 months ago

vjenkinsFB commented 12 months ago

Hi, so, bad time for me to notice my error, but I named a disease wrongly in my ticket and it got carried down into the name that you gave to the disease, very very sorry!

[Term] id: DOID:0070422 name: syndromic X-linked intellectual disability Pilgorge type def: "A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22." [url:https\://pubmed.ncbi.nlm.nih.gov/35294868/] synonym: "MRXSP" EXACT [] xref: OMIM:301076 is_a: DOID:0060309 ! syndromic X-linked intellectual disability

From OMIM: Xp22.2 Intellectual developmental disorder, X-linked syndromic, Pilorge type 301076 XL 3 GLRA2 305990

From original paper: Pilorge, M., Fassier, C., Le Corronc, H., Potey, A., Bai, J., De Gois, S., Delaby, E., Assouline, B., Guinchat, V., Devillard, F., Delorme, R., Nygren, G., and 15 others. Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. Molec. Psychiat. 21: 936-945, 2016. [PubMed: 26370147, images, related citations] [Full Text]

I'm very sorry about this! Apparently my brain invented an extra G in the author's name and stuck to that wrong idea.

allenbaron commented 12 months ago

Wow, thanks for noticing. I guess that added "g" was really convincing to my brain because I read the name a number of times from other sources and never noticed.

It will be fixed in the next release.

vjenkinsFB commented 12 months ago

Really sorry about that! I think it's just an awkward-looking word from an English-speaker's POV :/