(Q55783230)

English

acroosteolysis-keloid-like lesions-premature aging syndrome

human disease

PENTT
PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT
PREMATURE AGING SYNDROME, PENTTINEN TYPE

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

progeroid syndrome

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

UniProt protein ID

13 August 2019

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000113721/MONDO_0011150

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_363665

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

UniProt disease ID

0 references

Sitelinks

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Multilingual sites(0 entries)

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