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Seckel syndrome 9
Seckel syndrome that has material basis in homozygous mutation in the TRAIP gene on chromosome 3p21
SCKL9
Seckel Syndrome 9
Seckel Syndrome type 9
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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_0014767
rare disease
0 references
class of disease
0 references
subclass of
Seckel syndrome
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0070005
genetic association
TRAIP
2 references
stated in
UniProt
UniProt protein ID
Q9BWF2
retrieved
13 August 2019
stated in
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0070005
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0070005
http://identifiers.org/doid/DOID:0070005
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0070005
1 reference
stated in
Disease Ontology
retrieved
27 November 2020
Disease Ontology ID
DOID:0070005
Mondo ID
MONDO_0014767
0 references
OMIM ID
616777
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0070005
UMLS CUI
C4225212
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014767
UniProt disease ID
DI-04640
0 references
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