cataract 34 multiple types

Summary
Synonym
  • CATC3
  • CTRCT34
  • autosomal recessive congenital cataract 3
  • cataract 34 multiple types with or without microcornea
Definition
A cataract that has_material_basis_in variation in the region 1p34.3-p32.2.
Super Class
cataract
External Links
Disease Ontology
DOID:0110230
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description Source
51084 CRYL1 crystallin lambda 1
51763 INPP5K inositol polyphosphate-5-phosphatase K
55750 AGK acylglycerol kinase
The Human Phenotype Ontology
Displaying all 8 entries
HPO ID HPO Term
HP:0000659 Peters anomaly
HP:0011493 Central opacification of the cornea
HP:0000523 Subcapsular cataract
HP:0007759 Opacification of the corneal stroma
HP:0000486 Strabismus
HP:0001087 Developmental glaucoma
HP:0011483 Anterior synechiae of the anterior chamber
HP:0000639 Nystagmus
Displaying 1 entry
Gene ID Gene Symbol Description
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024