(Q55345775)

English

Stickler syndrome type 2

human disease

STL 2
Stickler Syndrome, Beaded Vitreous Type
STICKLER SYNDROME, TYPE II; STL2
Stickler Syndrome Type II
Stickler syndrome, type 2
STICKLER SYNDROME, TYPE II
STL2
Stickler Syndrome, Vitreous Type 2
Stickler syndrome 2

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Statements

0 references

2 references

Monarch Disease Ontology release 2018-06-29

3 July 2018

29 November 2020

autosomal dominant disease

1 reference

29 November 2020

1 reference

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000060718/MONDO_0011493

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C74985

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

http://www.orpha.net/ORDO/Orphanet_828

0 references

http://www.orpha.net/ORDO/Orphanet_90654

0 references

http://purl.obolibrary.org/obo/DOID_0080675

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0080675

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C537493

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

29 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

3 July 2018

0 references

(Q55345775)

Stickler syndrome type 2

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Identifiers

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