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(Q6311812)
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English
junctional epidermolysis bullosa with pyloric atresia
Human disease
epidermolysis bullosa junctionalis with pyloric atresia
JEB-PA
Carmi syndrome
junctional epidermolysis bullosa-pyloric atresia syndrome
In more languages
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
junctional epidermolysis bullosa
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060733
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0060733
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060733
health specialty
medical genetics
0 references
genetic association
ITGB4
2 references
stated in
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000132470/Orphanet_79403
based on heuristic
inferred from an Open Targets association score over 0.7
ITGA6
1 reference
stated in
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
on focus list of Wikimedia project
WikiProject Medicine
0 references
NCI Thesaurus ID
C162474
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060733
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060733
http://identifiers.org/doid/DOID:0060733
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_79403
0 references
Identifiers
Disease Ontology ID
DOID:0060733
1 reference
stated in
Disease Ontology
retrieved
29 November 2020
Disease Ontology ID
DOID:0060733
ICD-10-CM
Q81.8
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060733
ICD-11 (foundation)
1877890811
0 references
OMIM ID
226730
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060733
Orphanet ID
79403
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060733
UMLS CUI
C1856934
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
Sitelinks
Wikipedia
(1 entry)
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enwiki
Junctional epidermolysis bullosa with pyloric atresia
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
(0 entries)
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