(Q55786408)

English

microcephaly-brain defect-spasticity-hypernatremia syndrome

human disease

Franek-Bocker-Kahlen syndrome
Microcephaly brain defect spasticity hypernatremia
Microcephaly - brain defect - spasticity - hypernatremia

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

syndrome with microcephaly as major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000113555/Orphanet_2523

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_2523

0 references

Identifiers

GARD rare disease ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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)

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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