(Q7616403)

English

stiff skin syndrome

medical condition

congenital fascial dystrophy
SSS
SSKS
STIFF SKIN SYNDROME; SSKS
STIFF SKIN SYNDROME

In more languages

Statements

0 references

class of disease

0 references

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

autosomal dominant disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

medical genetics

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000166147/MONDO_0008492

based on heuristic

inferred from an Open Targets association score over 0.7

NCI Thesaurus ID

C118636

0 references

C118636

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

http://www.orpha.net/ORDO/Orphanet_2833

0 references

http://purl.obolibrary.org/obo/DOID_0111561

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0111561

1 reference

Identifiers.org

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

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

GARD rare disease ID

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

ICD-11 (foundation)

0 references

Microsoft Academic ID

0 references

0 references

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Stiff_skin_syndrome&oldid=948321245

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(3 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q7616403&oldid=2087166819"