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hypophosphatemic rickets, X-linked recessive
human disease
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE
X-linked recessive hypophosphatemic rickets
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No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
X-linked recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080353
hypophosphatemic rickets
0 references
familial hypophosphatemia
0 references
rickets
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080353
genetic association
CLCN5
1 reference
stated in
A common molecular basis for three inherited kidney stone diseases
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://www.orpha.net/ORDO/Orphanet_1652
0 references
http://www.orpha.net/ORDO/Orphanet_93622
0 references
http://purl.obolibrary.org/obo/DOID_0080353
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080353
http://identifiers.org/doid/DOID:0080353
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
KEGG ID
H02142
0 references
Disease Ontology ID
DOID:0080353
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0080353
Mondo ID
MONDO_0010358
0 references
OMIM ID
300554
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010358
Orphanet ID
93622
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010358
1652
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010358
UMLS CUI
C1845168
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0010358
UniProt disease ID
DI-00574
0 references
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Wiktionary
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