(Q55784612)

English

intellectual disability-strabismus syndrome

human disease

Mental Retardation, Autosomal Recessive type 36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36; MRT36
MRT36
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies

In more languages

Statements

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class of disease

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syndrome with a symptomatic strabismus

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

1 reference

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

NCI Thesaurus ID

C186789

0 references

http://www.orpha.net/ORDO/Orphanet_363528

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Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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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

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

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