(Q28065632)

English

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

Human disease

MRXS32
mental retardation, X-linked, syndromic 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32
Mental Retardation, X-Linked, Syndromic type 32

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X-linked intellectual disability

2 references

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

30 November 2021

genetic cardiac rhythm disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

30 November 2020

2 references

13 August 2019

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060828

1 reference

30 November 2021

http://identifiers.org/doid/DOID:0060828

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

1 reference

30 November 2021

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

(Q28065632)

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

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