(Q2756703)

English

septo-optic dysplasia

medical condition

De Morsier syndrome
septooptic dysplasia
SOD

In more languages

Statements

designated intractable/rare disease

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

0 references

class of disease

0 references

optic nerve hypoplasia

0 references

autosomal genetic disease

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

nervous system malformations

0 references

congenital absence of septum pellucidum

0 references

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

Georges de Morsier

0 references

health specialty

medical genetics

0 references

genetic association

2 references

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000163666/Orphanet_3157

based on heuristic

inferred from an Open Targets association score over 0.7

external data available at URL

http://www.nanbyou.or.jp/entry/4402

language of work or name

1 reference

https://ddrare.nibiohn.go.jp/

17 May 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

NCI Thesaurus ID

C85063

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_0060857

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0060857

1 reference

Identifiers.org

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

http://purl.obolibrary.org/obo/HP_0100842

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

Identifiers

MeSH descriptor ID

subject named as

Septo-Optic Dysplasia

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

C10.292.562.700.375.875

0 references

C10.500.034.937

0 references

C10.500.760.500

0 references

C11.590.436.400.875

0 references

C16.131.666.034.937

0 references

C16.131.666.763.500

0 references

PatientsLikeMe condition ID

septo-optic-dysplasia

0 references

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Freebase Data Dumps

publication date

28 October 2013

GARD rare disease ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

Genetics Home Reference Conditions ID

septo-optic-dysplasia

0 references

Human Phenotype Ontology ID

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

ICD-11 (foundation)

0 references

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

0 references

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

2 references

Disease Ontology

28 August 2019

Disease Ontology ID

Human Phenotype Ontology release 2018-03-08

8 October 2018

Human Phenotype Ontology ID

UniProt disease ID

0 references

WikiProjectMed ID

Septo-optic dysplasia

0 references

Sitelinks

Wikipedia(9 entries)

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)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q2756703&oldid=2180154969"