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(Q4159544)
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English
1-alpha-hydroxylase deficiency
No description defined
Vitamin D dependent rickets type I
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Statements
instance of
class of disease
0 references
subclass of
Vitamin D-dependent ricket
0 references
hypocalcemic rickets
0 references
genetic association
CYP27B1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000111012/Orphanet_289157
based on heuristic
inferred from an Open Targets association score over 0.7
CYP2R1
1 reference
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000186104/Orphanet_289157
based on heuristic
inferred from an Open Targets association score over 0.7
Identifiers
Google Knowledge Graph ID
/g/1226sp4r
0 references
ICD-11 (foundation)
1270705227
0 references
ICD-11 ID (MMS)
5C63.20
subject named as
Hypocalcaemic vitamin D dependent rickets
0 references
Orphanet ID
289157
0 references
UMLS CUI
C0268689
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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ruwiki
Дефицит 1α-гидроксилазы
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Wikiquote
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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