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acroosteolysis-keloid-like lesions-premature aging syndrome
(Q55783230)
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From Wikidata
human disease
PENTT
PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT
PREMATURE AGING SYNDROME, PENTTINEN TYPE
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Language
Label
Description
Also known as
default for all languages
No label defined
–
English
acroosteolysis-keloid-like lesions-premature aging syndrome
human disease
PENTT
PREMATURE AGING SYNDROME, PENTTINEN TYPE; PENTT
PREMATURE AGING SYNDROME, PENTTINEN TYPE
Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011150
rare disease
0 references
class of disease
0 references
subclass of
progeroid syndrome
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011150
genetic association
PDGFRB
3 references
stated in
UniProt
UniProt protein ID
P09619
retrieved
13 August 2019
stated in
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000113721/MONDO_0011150
based on heuristic
inferred from an Open Targets association score over 0.7
exact match
http://www.orpha.net/ORDO/Orphanet_363665
0 references
Identifiers
MeSH descriptor ID
C536653
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011150
ICD-10-CM
E34.8
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011150
Mondo ID
MONDO_0011150
0 references
OMIM ID
601812
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011150
Orphanet ID
363665
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011150
UMLS CUI
C1866182
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0011150
UniProt disease ID
DI-04566
0 references
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(Q55783230)
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