(Q55783257)

English

axial spondylometaphyseal dysplasia

No description defined

SMD Axial
SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
Spondylometaphyseal dysplasia axial type
Smd, Axial
Axial Smd

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

spondylometaphyseal dysplasia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000160226/MONDO_0011211

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_168549

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

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

UniProt disease ID

0 references

Sitelinks

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Wikiquote(0 entries)

Wikisource(0 entries)

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Wiktionary(0 entries)

Multilingual sites(0 entries)

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