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(Q12770465)
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English
lobar holoprosencephaly
No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
holoprosencephaly
0 references
genetic association
GLI2
1 reference
stated in
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
SIX3
1 reference
stated in
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
ZIC2
1 reference
stated in
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
exact match
http://www.orpha.net/ORDO/Orphanet_93924
0 references
Identifiers
ICD-10-CM
Q04.2
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019756
Mondo ID
MONDO_0019756
0 references
Orphanet ID
93924
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019756
UMLS CUI
C0431362
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
7 August 2018
Mondo ID
MONDO_0019756
Sitelinks
Wikipedia
(1 entry)
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skwiki
Lobárna holoprozencefália
Wikibooks
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Wikinews
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Wikiquote
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
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Multilingual sites
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