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(Q55785126)
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English
aniridia type 3
human disease
AN3
Aniridia 3
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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_0014938
rare disease
0 references
disease
1 reference
stated in
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression
subclass of
aniridia
0 references
genetic association
TRIM44
2 references
stated in
UniProt
UniProt protein ID
Q96DX7
retrieved
13 August 2019
stated in
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression
Identifiers
Mondo ID
MONDO_0014938
0 references
OMIM ID
617142
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014938
UMLS CUI
C4310695
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014938
UniProt disease ID
DI-04859
0 references
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