(Q6822414)

English

metachondromatosis

a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions

METCDS
MC

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

0 references

0 references

primary bone dysplasia with disorganized development of skeletal components

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007979

autosomal dominant disease

1 reference

30 November 2020

osteochondrodysplasia

1 reference

30 November 2020

3 references

13 August 2019

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000179295/MONDO_0007979

based on heuristic

inferred from an Open Targets association score over 0.7

ICD-9-CM

756.59

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_2499

0 references

http://purl.obolibrary.org/obo/DOID_0111512

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111512

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

Identifiers

MeSH descriptor ID

C562938

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

1 reference

30 November 2020

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007979

Microsoft Academic ID

0 references

0 references

mapping relation type

exact match

2 references

imported from Wikimedia project

English Wikipedia

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

(Q6822414)

metachondromatosis

Statements

Identifiers

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Wikipedia(5 entries)

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