(Q30315066)

English

marfanoid–progeroid–lipodystrophy syndrome

human disease

progeroid and marfanoid aspect-lipodystrophy syndrome
MFLS
Marfan Lipodystrophy Syndrome
progeroid fibrillinopathy

In more languages

Statements

0 references

class of disease

0 references

rare genetic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

systemic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic systemic or rheumatologic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000166147/MONDO_0014831

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_300382

0 references

Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

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

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

UniProt disease ID

0 references

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)

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