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congenital diarrhea 7 with exudative enteropathy
Human disease
congenital chronic diarrhea with exudative enteropathy
congenital chronic diarrhea with protein-losing enteropathy
Diarrhea type 7
DIAR7
DIARRHEA 7
DIARRHEA 7; DIAR7
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No label defined
No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
congenital diarrhea
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060778
intractable diarrhea of infancy
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014375
rare genetic intestinal disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014375
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0060778
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060778
symptoms and signs
diarrhea
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060778
genetic association
DGAT1
2 references
stated in
UniProt
UniProt protein ID
O75907
retrieved
13 August 2019
stated in
DGAT1 mutation is linked to a congenital diarrheal disorder
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060778
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060778
http://identifiers.org/doid/DOID:0060778
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0060778
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060778
ICD-10-CM
P78.3
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060778
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014375
Mondo ID
MONDO_0014375
0 references
OMIM ID
615863
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060778
Orphanet ID
329242
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060778
UMLS CUI
C4014516
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014375
UniProt disease ID
DI-04130
0 references
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(0 entries)
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Wikibooks
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Wikinews
(0 entries)
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Wikiquote
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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