(Q27677681)

English

Leber congenital amaurosis 17

Leber congenital amaurosis that has material basis in mutation in the GDF6 gene on chromosome 8q22

LCA17
Leber congenital amaurosis type 17
LEBER CONGENITAL AMAUROSIS 17; LCA17
LEBER CONGENITAL AMAUROSIS 17

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Statements

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class of disease

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Leber congenital amaurosis

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

genetic disease

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0110217

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://identifiers.org/doid/DOID:0110217

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Monarch Disease Ontology release 2018-06-29

28 July 2018

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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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