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English
holoprosencephaly 8
holoprosencephaly that has material basis in variation in the chromosome region 14q13
HPE8
holoprosencephaly type 8
HOLOPROSENCEPHALY 8; HPE8
HOLOPROSENCEPHALY 8
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Statements
instance of
class of disease
0 references
subclass of
holoprosencephaly
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110879
genetic disease
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110879
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110879
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110879
http://identifiers.org/doid/DOID:0110879
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_2162
0 references
Identifiers
MeSH descriptor ID
C563723
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0012267
Disease Ontology ID
DOID:0110879
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0110879
Mondo ID
MONDO_0012267
0 references
OMIM ID
609408
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110879
609408
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0012267
UMLS CUI
C1836254
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0012267
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