(Q31841332)

English

corpus callosum agenesis-abnormal genitalia syndrome

medical condition

Proud syndrome
Acc With Abnormal Genitalia
ACC-abnormal genitalia syndrome
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
Proud-Levine-Carpenter syndrome

In more languages

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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

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

29 November 2020

1 reference

29 November 2020

3 references

13 August 2019

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000004848/MONDO_0010224

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_2508

0 references

http://purl.obolibrary.org/obo/DOID_0112151

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0112151

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C563110

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

29 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q31841332)

corpus callosum agenesis-abnormal genitalia syndrome

Statements

Identifiers

Sitelinks

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