(Q55784623)

English

hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

human disease

SHNS
SHAHEEN SYNDROME; SHNS
SHAHEEN SYNDROME

In more languages

Statements

0 references

class of disease

0 references

rare disease with odontological manifestation

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000133103/MONDO_0014131

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_363523

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 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=Q55784623&oldid=2087409621"