(Q55783855)

English

juvenile cataract-microcornea-renal glucosuria syndrome

No description defined

CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA; CJMG
CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA
CJMG

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Statements

0 references

class of disease

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syndromic cataract

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

disorder of carbohydrate absorption and transport

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

nephropathy secondary to a storage or other metabolic disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

http://www.orpha.net/ORDO/Orphanet_247794

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Identifiers

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mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

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