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(Q55789153)
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English
syndromic aniridia
aniridia that is part of a larger syndrome
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0020148
class of disease
0 references
subclass of
aniridia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0020148
syndromic cataract
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0020148
syndromic developmental defect of the eye
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0020148
exact match
http://www.orpha.net/ORDO/Orphanet_98557
0 references
Identifiers
Mondo ID
MONDO_0020148
0 references
Orphanet ID
98557
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0020148
UMLS CUI
C5681658
1 reference
based on heuristic
inferred by common Orphanet mappings on source and on Wikidata
stated in
UMLS 2023
retrieved
16 June 2023
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