(Q53660487)

English

autosomal dominant mental retardation 48

human disease

MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; MRD48
MRD48

In more languages

Statements

class of disease

0 references

autosomal dominant non-syndromic intellectual disability

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000136238/EFO_0009156

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0080235

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://www.orpha.net/ORDO/Orphanet_500159

0 references

http://identifiers.org/doid/DOID:0080235

1 reference

Identifiers.org

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

Identifiers

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

Experimental Factor Ontology ID

1 reference

based on heuristic

inferred by common DOID mappings on source and on Wikidata

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

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)

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