About: juvenile cataract-microcornea-renal glucosuria syndrome

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About: juvenile cataract-microcornea-renal glucosuria syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Attributes	Values
rdf:type	Item
exact match	wds:Q55783855-663CF4E3-B25D-493A-8F45-525A907C277A
exact match	http://www.orpha.net/ORDO/Orphanet_247794
Mondo ID	wds:Q55783855-D52FFB1F-D966-48A6-8F0E-2ED49B4534E8
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0012786
Mondo ID	MONDO_0012786
rdfs:label	juvenile cataract-microcornea-renal glucosuria syndrome (en)
skos:prefLabel	juvenile cataract-microcornea-renal glucosuria syndrome (en)
name	juvenile cataract-microcornea-renal glucosuria syndrome (en)
instance of	wds:Q55783855-88F94812-6E5E-4C81-9C3B-DFA36262CC17 wds:Q55783855-9BE075E9-7CCD-4226-A952-20B3CC7A032F
instance of	class of disease rare disease
subclass of	wds:Q55783855-0CE06E39-B2A7-42D8-B414-F3294D5EE9CD wds:Q55783855-BBE57439-6A91-44AD-A7E3-3FC577026169 wds:Q55783855-E70422AC-EE7D-4BE4-8013-A1EF0DAF4110
subclass of	syndromic cataract nephropathy secondary to a storage or other metabolic disease disorder of carbohydrate absorption and transport
Orphanet ID	wds:Q55783855-448A6A2C-5B97-4C05-869F-465F3253E10B
genetic association	wds:Q55783855-E634665C-6DEF-4DC9-9CF1-705194209D71
OMIM ID	wds:Q55783855-9EDC0097-A152-441E-8AB8-86AD7CA9872B
Orphanet ID	247794
genetic association	SLC16A12
OMIM ID	612018
skos:altLabel	CJMG (en) CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; CJMG (en) CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA (en)
UMLS CUI	wds:Q55783855-59102DA5-1638-4395-B0C8-4319C6984445 wds:Q55783855-F0A83499-5019-4208-ABFD-C18C530BBB1F
UMLS CUI	C2677587 C4302529
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55783855

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