(Q55781317)

English

osteoglophonic dwarfism

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth

OSTEOGLOPHONIC DYSPLASIA
Osteoglophonic Dwarfism
OGD
OSTEOGLOPHONIC DYSPLASIA; OGD
osteoglophonic dysplasia
Fairbank-Keats syndrome

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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

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_0008150

autosomal dominant disease

1 reference

30 November 2020

osteochondrodysplasia

1 reference

30 November 2020

3 references

13 August 2019

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000077782/MONDO_0008150

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_2645

0 references

http://purl.obolibrary.org/obo/DOID_0111532

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111532

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C536050

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

30 November 2020

0 references

Genetics Home Reference Conditions ID

osteoglophonic-dysplasia

0 references

ICD-10-CM

Q87.1

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Sitelinks

Wikipedia(1 entry)

dewiki Osteoglophone Dysplasie

(Q55781317)

osteoglophonic dwarfism

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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