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Inconsistent synonym (MONDO:0000179) #8566

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CPaulMorrey opened this issue Jan 13, 2025 · 0 comments
Open

Inconsistent synonym (MONDO:0000179) #8566

CPaulMorrey opened this issue Jan 13, 2025 · 0 comments
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@CPaulMorrey
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Mondo term (ID Label)
Neu-Laxova syndrome (MONDO:0000179)

Bug/Typo/Error description
The exact synonym "nuclear localization signal" is inconsistent with Neu-Laxova syndrome.

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

Nuclear Localization Signal has the following definition from NCIT: An amino acid sequence that directs the post-translational transport of a protein to the nucleus. The sequence contains positively charged amino acids such as arginine and lysine.

Your nano-attribution (ORCID)
0000-0002-6097-5913

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