(Q3961678)

(Redirected from Q3508665)

English

Laurence-Moon syndrome

rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities

Laurence-Moon-Biedl syndrome
LAURENCE-MOON SYNDROME
LNMS
LAURENCE-MOON SYNDROME; LNMS

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

autosomal recessive disease

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

30 November 2020

Disease Ontology ID

unclassified primitive or secondary maculopathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic retinitis pigmentosa

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic developmental defect of the eye

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

hereditary retinal dystrophy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

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

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

medical genetics

0 references

genetic association

2 references

UniProt protein ID

13 August 2019

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

on focus list of Wikimedia project

WikiProject Medicine

0 references

253.4

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

NCI Thesaurus ID

C34760

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_1930

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:1930

1 reference

Identifiers.org

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

http://www.orpha.net/ORDO/Orphanet_2377

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

C10.228.140.617.500

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C16.131.077.509

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

2 references

Monarch Disease Ontology release 2018-06-29

28 July 2018

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

imported from Wikimedia project

English Wikipedia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

imported from Wikimedia project

English Wikipedia

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

UniProt disease ID

0 references

WikiProjectMed ID

Laurence–Moon syndrome

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)

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