(Q55783390)

English

mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

No description defined

OSCDP
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
Namaqualand Hip Dysplasia
OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA; OSCDP

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

type 2 collagen-related bone disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000139219/MONDO_0011496

based on heuristic

inferred from an Open Targets association score over 0.7

755.63

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_93279

0 references

Identifiers

0 references

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

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

Sitelinks

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Wikiquote(0 entries)

Wikisource(0 entries)

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Wikivoyage(0 entries)

Wiktionary(0 entries)

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