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(Q32144660)
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English
adult hypophosphatasia
A hypophosphatasia that has material basis in a heterozygous mutation of ALPL on chromosome 1p36.12.
mild hypophosphatasia
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Statements
instance of
class of disease
0 references
subclass of
hypophosphatasia
1 reference
stated in
Disease Ontology
retrieved
25 November 2020
Disease Ontology ID
DOID:0110913
genetic association
ALPL
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000162551/EFO_0021431
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_0110913
1 reference
stated in
Disease Ontology
retrieved
25 November 2020
Disease Ontology ID
DOID:0110913
http://identifiers.org/doid/DOID:0110913
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_247676
0 references
Identifiers
Disease Ontology ID
DOID:0110913
1 reference
stated in
Disease Ontology
retrieved
25 November 2020
Disease Ontology ID
DOID:0110913
Experimental Factor Ontology ID
0021431
1 reference
based on heuristic
inferred by common DOID mappings on source and on Wikidata
OMIM ID
146300
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110913
Orphanet ID
247676
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110913
UMLS CUI
C0268413
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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Wikivoyage
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Wiktionary
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Multilingual sites
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