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English
Bardet-Biedl syndrome 17
human disease
BBS17
BARDET-BIEDL SYNDROME 17
Bardet-Biedl Syndrome type 17
BARDET-BIEDL SYNDROME 17; BBS17
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No label defined
No description defined
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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_0014445
rare disease
0 references
class of disease
0 references
subclass of
Bardet-Biedl syndrome
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0110139
health specialty
medical genetics
0 references
genetic association
LZTFL1
2 references
stated in
UniProt
UniProt protein ID
Q9NQ48
retrieved
13 August 2019
stated in
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
on focus list of Wikimedia project
WikiProject Medicine
0 references
exact match
http://purl.obolibrary.org/obo/DOID_0110139
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110139
stated in
Disease Ontology
retrieved
10 July 2020
Disease Ontology ID
DOID:0110139
http://identifiers.org/doid/DOID:0110139
2 references
stated in
Identifiers.org
reference URL
http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233
stated in
Disease Ontology
retrieved
10 July 2020
Disease Ontology ID
DOID:0110139
Identifiers
Disease Ontology ID
DOID:0110139
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110139
stated in
Disease Ontology
retrieved
10 July 2020
Disease Ontology ID
DOID:0110139
ICD-10-CM
Q87.89
2 references
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110139
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014445
Mondo ID
MONDO_0014445
0 references
OMIM ID
615994
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0110139
UMLS CUI
C3714980
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0014445
UniProt disease ID
DI-04076
0 references
Sitelinks
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Multilingual sites
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