(Q6523439)

English

Lenz microphthalmia syndrome

human disease

Lenz Microphthalmia Syndrome
MCOPS1
Microphthalmia, Syndromic type 1
microphthalmia, Lenz type
Lenz microphthalmia
syndromic microphthalmia 1
microphthalmia with multiple associated anomalies
Lenz syndrome
Lenz dysmorphogenetic syndrome
Lenz dysplasia

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Statements

instance of

hereditary disorder

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developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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syndromic microphthalmia

1 reference

30 November 2020

1 reference

30 November 2020

2 references

13 August 2019

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

ICD-9-CM

759.89

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_568

0 references

http://purl.obolibrary.org/obo/DOID_0111799

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111799

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C537464

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0010671

PatientsLikeMe condition ID

lenz-microphthalmia-syndrome

0 references

1 reference

30 November 2020

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Genetics Home Reference Conditions ID

lenz-microphthalmia-syndrome

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ICD-10-CM

Q11.2

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

Microsoft Academic ID

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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

7 August 2018

mapping relation type

close 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

7 August 2018

0 references

Sitelinks

Wikipedia(2 entries)

dewiki Lenz-Syndrom
enwiki Lenz microphthalmia syndrome

(Q6523439)

Lenz microphthalmia syndrome

Statements

Identifiers

Sitelinks

Wikipedia(2 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)