(Q55787753)

English

intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

No description defined

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

class of disease

0 references

syndromic obesity

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

2 references

17 August 2020

https://search.clinicalgenome.org/kb/gene-validity/456bfabf-5cad-4a08-bf21-3611a6fbf9b1--2020-08-15T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_456bfabf-5cad-4a08-bf21-3611a6fbf9b1-2020-08-15T160000.000Z

http://www.orpha.net/ORDO/Orphanet_352530

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

Sitelinks

Wikipedia(0 entries)

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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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