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(Q4817548)
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English
atrichia with papular lesions
Human disease
papular atrichia
ATRICHIA WITH PAPULAR LESIONS; APL
APL
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
alopecia
0 references
baldness
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008847
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060689
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060689
health specialty
dermatology
0 references
genetic association
HR
3 references
stated in
UniProt
UniProt protein ID
O43593
retrieved
13 August 2019
stated in
A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000168453/MONDO_0008847
based on heuristic
inferred from an Open Targets association score over 0.7
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060689
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060689
http://identifiers.org/doid/DOID:0060689
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_86819
0 references
Identifiers
MeSH descriptor ID
C565924
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008847
KEGG ID
H00780
0 references
Disease Ontology ID
DOID:0060689
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060689
ICD-10-CM
L65.8
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060689
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008847
Microsoft Academic ID
2779798597
0 references
Mondo ID
MONDO_0008847
0 references
OMIM ID
209500
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060689
Orphanet ID
86819
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060689
UMLS CUI
C1859592
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008847
UniProt disease ID
DI-00154
0 references
WikiProjectMed ID
Atrichia with papular lesions
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
Atrichia with papular lesions
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
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