(Q55784997)

English

Lamb-Shaffer syndrome

human disease

LAMSHF
developmental and speech delay due to SOX5 deficiency

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0 references

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0014778

genetic syndromic intellectual disability

0 references

genetic association

SOX5

3 references

stated in

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

28 March 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_781f21f2-d01a-457c-913e-8687a7c2650d-2022-01-27T170000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000134532/MONDO_0017782

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_313892

0 references

Identifiers

KEGG ID

H02156

0 references

Google Knowledge Graph ID

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Lamb-Shaffer syndrome

0 references

(Q55784997)

Lamb-Shaffer syndrome

Statements

Identifiers

Sitelinks

Wikipedia(3 entries)

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