(Q27674877)

English

cataract 42

Human disease

A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.
CTRCT42
CATARACT 42
Cataract type 42
CATARACT 42; CTRCT42

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Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

autosomal dominant disease

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

health specialty

medical genetics

0 references

genetic association

2 references

UniProt protein ID

13 August 2019

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110237

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

http://identifiers.org/doid/DOID:0110237

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2021

Disease Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

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Wikiquote(0 entries)

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