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MONDO:0014606- Spelling Error in Definition #7964

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madysoncbrown opened this issue Jul 15, 2024 · 1 comment · Fixed by #8390
Closed

MONDO:0014606- Spelling Error in Definition #7964

madysoncbrown opened this issue Jul 15, 2024 · 1 comment · Fixed by #8390
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bug curateathon2024 typo user request A request from an external user

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@madysoncbrown
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Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome (MONDO:0014606)

In the definition for MONDO:0014606 the word "aggressiveness" was spelled incorrectly:

"Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)."

https://www.clinicalgenome.org/curation-activities/dosage-sensitivity/
https://search.clinicalgenome.org/kb/gene-dosage/HGNC:18801

@elizabeth-gavrilov
@ErinRiggs

@sagehrke sagehrke added the user request A request from an external user label Jul 25, 2024
@katiermullen katiermullen self-assigned this Nov 14, 2024
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@madysoncbrown

Thank you for submitting this issue! The error has been fixed and will appear corrected in the next Mondo release.

katiermullen added a commit that referenced this issue Nov 14, 2024
sabrinatoro added a commit that referenced this issue Nov 14, 2024
* MONDO:0014606- Spelling Error in Definition

Closes #7964

* Update mondo-edit.obo

* Update mondo-edit.obo

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Co-authored-by: Sabrina Toro <[email protected]>
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