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(Q3508598)
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English
brittle cornea syndrome
Human disease
Kyphoscoliosis type
brittle cornea syndrome 2
type VIB Ehlers-Danlos syndrome
EDS VIB (formerly)
BCS1
Brittle Cornea Syndrome type 1
BRITTLE CORNEA SYNDROME 1
Ehlers-Danlos syndrome type 6B (formerly)
In more languages
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
Ehlers-Danlos syndrome
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:14775
corneal disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:14775
autosomal recessive disease
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:14775
anatomical location
cornea
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14775
genetic association
ZNF469
2 references
stated in
Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000225614/MONDO_0009242
based on heuristic
inferred from an Open Targets association score over 0.7
PRDM5
1 reference
stated in
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance
on focus list of Wikimedia project
WikiProject Medicine
0 references
NCI Thesaurus ID
C125700
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14775
exact match
http://purl.obolibrary.org/obo/DOID_14775
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:14775
http://identifiers.org/doid/DOID:14775
1 reference
stated in
Identifiers.org
reference URL
https://registry.identifiers.org/registry/doid
http://www.orpha.net/ORDO/Orphanet_90354
0 references
Identifiers
MeSH descriptor ID
C536198
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14775
C536198
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009242
KEGG ID
H01902
0 references
H02245
0 references
Disease Ontology ID
DOID:14775
1 reference
stated in
Disease Ontology
retrieved
30 November 2020
Disease Ontology ID
DOID:14775
GARD rare disease ID
1019
2 references
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009242
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14775
Google Knowledge Graph ID
/g/121zvb_y
0 references
ICD-10-CM
Q79.6
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009242
Mondo ID
MONDO_0009242
0 references
OMIM ID
229200
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14775
614170
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14775
Orphanet ID
90354
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009242
UMLS CUI
C0268342
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:14775
C0268342
mapping relation type
close match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
6 August 2018
Mondo ID
MONDO_0009242
Sitelinks
Wikipedia
(1 entry)
edit
frwiki
Syndrome d'Ehlers-Danlos type cypho-scoliotique
Wikibooks
(0 entries)
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Wikinews
(0 entries)
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Wikiquote
(0 entries)
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Wikisource
(0 entries)
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Wikiversity
(0 entries)
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Wikivoyage
(0 entries)
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Wiktionary
(0 entries)
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Multilingual sites
(0 entries)
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