(Q2288646)

vitreoretinal degeneration

3 July 2018

Mondo ID

MONDO_0019354

1 reference

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

3 July 2018

1 reference

29 November 2020

0 references

0 references

0 references

1 reference

COL9A1

1 reference

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene

COL2A1

3 references

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Open Targets Platform

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0019354

24 August 2023

reference URL

based on heuristic

inferred from an Open Targets association score over 0.7

COL11A1

1 reference

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

COL11A2

1 reference

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

759.89

1 reference

3 July 2018

C74984

1 reference

http://purl.obolibrary.org/obo/DOID_0080046

3 July 2018

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0080046

1 reference

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

Identifiers.org

reference URL

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

0 references

Identifiers

MeSH descriptor ID

C537492

1 reference

PatientsLikeMe condition ID

3 July 2018

Mondo ID

MONDO_0019354

0 references

0 references

1 reference

29 November 2020

1 reference

imported from Wikimedia project

1 reference

28 October 2013

1 reference

28 August 2019

Genetics Home Reference Conditions ID

stickler-syndrome

0 references

ICD-10

Q89.8

1 reference

imported from Wikimedia project

1 reference

imported from Wikimedia project

3 July 2018

0 references

1 reference

English Wikipedia

Microsoft Academic ID

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

https://old.reddit.com/r/SticklerSyndrome/

3 July 2018

1 reference

title

Stickler Syndrome (English)

28 November 2021

UMLS CUI

C0265253

1 reference