(Q27674888)

English

cataract 36

A cataract that has material basis in homozygous mutation in the TDRD7 gene on chromosome 9q22.33.

CATC4
CTRCT36
autosomal recessive congenital cataract 4
Cataract, Autosomal Recessive Congenital 4
cataract type 36
CATARACT 36; CTRCT36
CATARACT 36

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class of disease

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1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

genetic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal recessive disease

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Disease Ontology

29 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

on focus list of Wikimedia project

WikiProject Medicine

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http://purl.obolibrary.org/obo/DOID_0110247

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0110247

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

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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