(Q530142)

English

FG syndrome

disease

Opitz-Kaveggia syndrome
Keller syndrome
OPITZ-KAVEGGIA SYNDROME; OKS
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, and Partial Agenesis of Corpus Callosum
OKS
Fg Syndrome 1
Fg Syndrome
FG syndrome type 1
Opitz–Kaveggia syndrome

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Statements

0 references

0 references

X-linked recessive disease

1 reference

29 November 2020

1 reference

29 November 2020

0 references

3 references

13 August 2019

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000184634/EFO_0009297

based on heuristic

inferred from an Open Targets association score over 0.7

FLNA

1 reference

stated in

Filamin A mutation is one cause of FG syndrome.

CASK

2 references

stated in

A missense mutation in CASK causes FG syndrome in an Italian family

stated in

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C171270

0 references

exact match

http://purl.obolibrary.org/obo/DOID_14711

1 reference

29 November 2020

http://identifiers.org/doid/DOID:14711

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

1 reference

15 May 2019

PatientsLikeMe condition ID

0 references

0 references

1 reference

29 November 2020

1 reference

imported from Wikimedia project

English Wikipedia

Experimental Factor Ontology ID

0009297

1 reference

based on heuristic

inferred by common DOID mappings on source and on Wikidata

1 reference

28 October 2013

1 reference

15 May 2019

1 reference

imported from Wikimedia project

English Wikipedia

Genetics Home Reference Conditions ID

fg-syndrome

0 references

Microsoft Academic ID

0 references

0 references

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

1 reference

15 May 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

1 reference

15 May 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

0 references

(Q530142)

FG syndrome

Statements

Identifiers

Sitelinks

Wikipedia(9 entries)

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