(Q1268671)

English

Dyggve–Melchior–Clausen syndrome

rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias

DMC
Dyggve-Melchior-Clausen disease
DMC disease
pseudo-Morquio disease type I
DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC
Dyggve-Melchior-Clausen Syndrome
Dyggve-Melchior-Clausen syndrome

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Statements

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spondyloepimetaphyseal dysplasia

1 reference

30 November 2020

1 reference

15 May 2019

autosomal recessive disease

1 reference

30 November 2020

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3 references

13 August 2019

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000141627/MONDO_0009130

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

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NCI Thesaurus ID

C124844

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C124844

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

http://purl.obolibrary.org/obo/DOID_0111167

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111167

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_239

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Identifiers

MeSH descriptor ID

C535726

0 references

C535726

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

1 reference

30 November 2020

1 reference

28 August 2019

Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

1 reference

28 August 2019

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

Sitelinks

Wikipedia(3 entries)

dewiki Dyggve-Melchior-Clausen-Syndrom
itwiki Sindrome di Dyggve-Melchior-Clausen
plwiki Zespół Dyggve-Melchiora-Clausena

(Q1268671)

Dyggve–Melchior–Clausen syndrome

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Identifiers

Sitelinks

Wikipedia(3 entries)

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Wikiquote(0 entries)

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Wikiversity(0 entries)

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