(Q102296176)

English

gnathodiaphyseal dysplasia

human disease

Gnathodiaphyseal dysplasia
GNATHODIAPHYSEAL DYSPLASIA; GDD
GDD
Gnathodiaphyseal Sclerosis
Osteogenesis Imperfecta With Unusual Skeletal Lesions
GNATHODIAPHYSEAL DYSPLASIA

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No label defined

No description defined

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Statements

instance of

hereditary disorder

0 references

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

autosomal dominant disease

1 reference

24 November 2020

osteochondrodysplasia

1 reference

24 November 2020

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_0008151

primary bone dysplasia with decreased bone density

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

3 references

13 August 2019

The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD)

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000171714/MONDO_0008151

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://purl.obolibrary.org/obo/DOID_0111533

1 reference

24 November 2020

http://identifiers.org/doid/DOID:0111533

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_53697

0 references

Identifiers

MeSH descriptor ID

C536039

mapping relation type

exact match

subject named as

Osteogenesis imperfecta, Levin type

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

24 November 2020

0 references

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

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Sitelinks

Wikipedia(1 entry)

dewiki Gnatho-diaphysäre Dysplasie

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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