(Q18553377)

English

atelosteogenesis

human disease

ATELOSTEOGENESIS, TYPE III
AO3
Aoiii
ATELOSTEOGENESIS, TYPE III; AO3
Atelosteogenesis type 3

In more languages

Statements

head and neck disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

osteochondrodysplasia

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Pierre robin syndrome associated with bone disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

filamin-related bone disorder

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

primary bone dysplasia with multiple joint dislocations

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

genetic association

3 references

UniProt protein ID

13 August 2019

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000136068/MONDO_0007168

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

http://purl.obolibrary.org/obo/DOID_0050648

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0050648

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_56305

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology ID

1 reference

Disease Ontology

29 November 2020

Disease Ontology ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

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

Sitelinks

Wikipedia(1 entry)

dewiki Atelosteogenesis

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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