(Q55784882)

English

congenital contractures of the limbs and face, hypotonia, and developmental delay

human disease

CLIFAHDD
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

genetic association

3 references

UniProt protein ID

13 August 2019

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000102452/EFO_1001868

based on heuristic

inferred from an Open Targets association score over 0.7

Identifiers

Experimental Factor Ontology ID

1 reference

based on heuristic

inferred by common MONDO mappings on source and on Wikidata

0 references

mapping relation type

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

UniProt disease ID

0 references

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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