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Standards Ontologies Notations
autosomal dominant nonsyndromic deafness 73

Summary
Definition
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21.
Super Class
autosomal dominant nonsyndromic deafness
Disease Ontology
DOID:0080269
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
237523 Ptprq protein tyrosine phosphatase receptor type Q
Displaying 1 entry
Gene ID Gene Symbol Description Source
360417 Ptprq protein tyrosine phosphatase, receptor type, Q
Displaying 1 entry
Gene ID Gene Symbol Description Source
32976 dome domeless
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024