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(Q55781010)
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English
hyperchlorhidrosis, isolated
human disease
Isolated hyperchlorhidrosis
carbonic anhydrase XII deficiency
isolated hyperchlorhidrosis
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
genetic disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0007747
epidermal appendage disease
0 references
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111371
skin disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111371
genetic association
CA12
1 reference
stated in
Hyperchlorhidrosis caused by homozygous mutation in CA12, encoding carbonic anhydrase XII
ICD-9-CM
276.9
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0007747
exact match
http://purl.obolibrary.org/obo/DOID_0111371
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111371
http://identifiers.org/doid/DOID:0111371
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
KEGG ID
H01302
0 references
Disease Ontology ID
DOID:0111371
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0111371
Mondo ID
MONDO_0007747
0 references
OMIM ID
143860
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0007747
Orphanet ID
542657
0 references
UMLS CUI
C1840437
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0007747
UniProt disease ID
DI-03013
0 references
Sitelinks
Wikipedia
(1 entry)
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enwiki
Isolated hyperchlorhidrosis
Wikibooks
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Wikinews
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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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