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(Q55785673)
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English
trisomy 12p
No description defined
Duplication 12p
Trisomy type 12p
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No label defined
No description defined
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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_0015723
class of disease
0 references
subclass of
partial trisomy/tetrasomy of the short arm of chromosome 12
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015723
chromosomal anomaly with epilepsy as a major feature
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015723
exact match
http://www.orpha.net/ORDO/Orphanet_1699
0 references
Identifiers
MeSH descriptor ID
C538299
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015723
ICD-10-CM
Q92.3
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015723
Mondo ID
MONDO_0015723
0 references
Orphanet ID
1699
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015723
UMLS CUI
C0795845
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0015723
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