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(Q55785164)
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English
lissencephaly type 8
human disease
Lissencephaly 8
LIS8
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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_0014992
rare disease
0 references
disease
1 reference
stated in
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
subclass of
lissencephaly
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014992
genetic association
TMTC3
2 references
stated in
UniProt
UniProt protein ID
Q6ZXV5
retrieved
13 August 2019
stated in
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Identifiers
Mondo ID
MONDO_0014992
0 references
OMIM ID
617255
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014992
UMLS CUI
CL602176
0 references
UniProt disease ID
DI-04891
0 references
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