(Q32136586)

English

macrocephaly-autism syndrome

human disease

macrocephaly-intellectual disability-autism syndrome
MACROCEPHALY/AUTISM SYNDROME

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No label defined

No description defined

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

autosomal dominant disease

1 reference

15 May 2019

rare disease with autism

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011537

rare genetic developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011537

other syndrome with a central nervous system malformation as major feature

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

3 references

13 August 2019

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000171862/MONDO_0011537

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060867

1 reference

28 August 2019

http://identifiers.org/doid/DOID:0060867

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

Identifiers

MeSH descriptor ID

C565342

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

28 August 2019

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

close 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

(Q32136586)

macrocephaly-autism syndrome

Statements

Identifiers

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