(Q21124520)

English

Stormorken syndrome

Human disease

thrombocytopathy, asplenia and miosis
York Platelet Syndrome
Stormorken-Sjaastad-Langslet syndrome
STRMK
STORMORKEN SYNDROME
Thrombocytopathy-asplenia-miosis syndrome
STORMORKEN SYNDROME; STRMK
Thrombocytopathy, Asplenia, and Miosis

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Statements

0 references

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blood platelet disease

1 reference

15 May 2019

syndromic constitutional thrombocytopenia

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

15 May 2019

0 references

5 references

13 August 2019

A dominant STIM1 mutation causes Stormorken syndrome

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/2f9f0d00-b060-4c80-9503-35ec490545ea--2020-04-22T16:00:00

26 January 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f9f0d00-b060-4c80-9503-35ec490545ea-2020-04-22T160000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000167323/MONDO_0008497

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

759.89

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0060354

1 reference

28 August 2019

http://identifiers.org/doid/DOID:0060354

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_3204

0 references

Identifiers

MeSH descriptor ID

C566108

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

28 August 2019

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Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

0 references

Sitelinks

Wikipedia(1 entry)

nowiki Stormorkens syndrom

(Q21124520)

Stormorken syndrome

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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