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Seckel syndrome 6
Seckel syndrome that has material basis in homozygous mutation in the CEP63 gene on chromosome 3q22
SCKL6
Seckel Syndrome type 6
SECKEL SYNDROME 6
SECKEL SYNDROME 6; SCKL6
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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_0013871
rare disease
0 references
class of disease
0 references
subclass of
Seckel syndrome
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0070006
genetic association
CEP63
2 references
stated in
UniProt
UniProt protein ID
Q96MT8
retrieved
13 August 2019
stated in
A primary microcephaly protein complex forms a ring around parental centrioles.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0070006
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0070006
http://identifiers.org/doid/DOID:0070006
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
Identifiers
Disease Ontology ID
DOID:0070006
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:0070006
Mondo ID
MONDO_0013871
0 references
OMIM ID
614728
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0070006
UMLS CUI
C3553582
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013871
UniProt disease ID
DI-03484
0 references
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