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Standards Ontologies Notations
pigmented paravenous chorioretinal atrophy

Summary
Synonym
  • PPRCA
Definition
An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3.
Super Class
autosomal dominant disease eye disease
Disease Ontology
DOID:0111541
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23418 CRB1 crumbs cell polarity complex component 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
170788 Crb1 crumbs family member 1, photoreceptor morphogenesis associated
Displaying 1 entry
Gene ID Gene Symbol Description Source
42896 crb crumbs
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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