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chromosome 17p13.1 deletion syndrome
Human disease
CHROMOSOME 17p13.1 DELETION SYNDROME
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No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
chromosomal deletion syndrome
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060402
classical lissencephalies and subcortical band heterotopias
0 references
autosomal dominant disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060402
partial monosomy of the short arm of chromosome 17
0 references
health specialty
neurology
0 references
medical genetics
0 references
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0060402
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060402
http://identifiers.org/doid/DOID:0060402
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0060402
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0060402
GARD rare disease ID
10996
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060402
Mondo ID
MONDO_0013415
0 references
OMIM ID
613776
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0060402
613776
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013415
UMLS CUI
C3151069
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0013415
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