(Q55783896)

English

Ehlers-Danlos syndrome, spondylocheirodysplastic type

human disease

EDS, spondylocheirodysplastic type
SCD-EDS
SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

Ehlers-Danlos syndrome

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000165915/MONDO_0012873

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_157965

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Sitelinks

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Multilingual sites(0 entries)

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