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(Q55783974)
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English
polymicrogyria with optic nerve hypoplasia
human disease
POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA
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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_0013172
rare disease
0 references
class of disease
0 references
subclass of
genetic syndromic intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
syndromic hereditary optic neuropathy
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
rare genetic developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
other syndrome with a central nervous system malformation as major feature
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
syndromic optic nerve hypoplasia
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
cerebral malformation with epilepsy
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
genetic association
TUBA8
2 references
stated in
UniProt
UniProt protein ID
Q9NY65
retrieved
13 August 2019
stated in
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
exact match
http://www.orpha.net/ORDO/Orphanet_250972
0 references
Identifiers
MeSH descriptor ID
C567715
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
Google Knowledge Graph ID
/g/11g_zyxq_g
0 references
Mondo ID
MONDO_0013172
0 references
OMIM ID
613180
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
Orphanet ID
250972
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
UMLS CUI
C2750798
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013172
Sitelinks
Wikipedia
(1 entry)
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dewiki
Polymikrogyrie mit Sehnerv-Hypoplasie
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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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