About: brittle cornea syndrome

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Human disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) Human disease (en) malattia (it) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q3508598-8D564E83-8A43-48D5-BAF6-9DE1FA66395F wds:Q3508598-B00C4C0C-60C5-4C7E-A8A7-BB073E2E0EF8 wds:Q3508598-EC62784F-00AF-46A1-BA49-6F57E82A524B
exact match	http://purl.obolibrary.org/obo/DOID_14775 http://identifiers.org/doid/DOID:14775 http://www.orpha.net/ORDO/Orphanet_90354
Mondo ID	wds:Q3508598-FE8B6F80-67DF-42C1-BA1C-0BD994FB15F4
Disease Ontology ID	wds:Q3508598-E683F494-AA61-4C8B-8417-BCD8269DC91F
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009242
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:14775
Mondo ID	MONDO_0009242
Disease Ontology ID	DOID:14775
rdfs:label	brittle cornea syndrome (en) syndrome d'Ehlers-Danlos type cypho-scoliotique (fr)
skos:prefLabel	brittle cornea syndrome (en) syndrome d'Ehlers-Danlos type cypho-scoliotique (fr)
name	brittle cornea syndrome (en) syndrome d'Ehlers-Danlos type cypho-scoliotique (fr)
instance of	wds:Q3508598-645244A8-C6C5-4CDF-959A-FFE2BAF346A7 wds:Q3508598-E93CB55F-0E89-4CBF-A88D-5EE6EE2FE225
instance of	class of disease rare disease
subclass of	wds:Q3508598-F5925E19-571C-46B8-94BB-CA862B55C52E wds:Q3508598-F7555185-BC2B-4164-B828-3C58B570F73D wds:Q3508598-be6c7a7b-4915-f397-f488-fc95384d19a4
subclass of	Ehlers-Danlos syndrome autosomal recessive disease corneal disease
Google Knowledge Graph ID	wds:Q3508598-E1E280D7-72D6-4D18-A32F-30A0A1A67A81
KEGG ID	wds:Q3508598-9BD8FD28-722F-46F4-B681-EF4A05CDD498 wds:Q3508598-A58AD002-82E3-46F7-9EC7-BBB1A36A9658
Google Knowledge Graph ID	http://g.co/kg/g/121zvb_y
KEGG ID	http://www.kegg.jp/entry/H01902 http://www.kegg.jp/entry/H02245
Google Knowledge Graph ID	/g/121zvb_y
KEGG ID	H01902 H02245
Orphanet ID	wds:Q3508598-9AEBE7AF-9E17-4AB7-8034-06B734C86DE4
genetic association	wds:Q3508598-4FA5DADD-ED74-49CE-9E69-22D7EF684585 wds:Q3508598-B2A48C17-0B0D-45C3-89D6-3E94E14E982E
ICD-10-CM	wds:Q3508598-956C081F-98B5-4E7B-B18E-D55D06AD0B81
GARD rare disease ID	wds:Q3508598-44CE00A3-8B42-44FF-92FC-EC8DA24DB124
OMIM ID	wds:Q3508598-35D66D43-B540-4BCC-88D2-BF704C9F6385 wds:Q3508598-DBB4DFE7-5AB2-48DE-9C7F-62F837D7AF37
Orphanet ID	90354
genetic association	ZNF469 PRDM5
ICD-10-CM	Q79.6
GARD rare disease ID	1019
OMIM ID	229200 614170
anatomical location	wds:Q3508598-DEAD95F2-6D51-49FE-BCB5-C44656F81A47
anatomical location	cornea
skos:altLabel	BCS1 (en) brittle cornea syndrome 2 (en) BRITTLE CORNEA SYNDROME 1 (en) Brittle Cornea Syndrome type 1 (en) EDS VIB (formerly) (en) Ehlers-Danlos syndrome type 6B (formerly) (en) Kyphoscoliosis type (en) Syndrome d'ehlers-danlos type cypho-scoliotique (fr) type VIB Ehlers-Danlos syndrome (en)
NCI Thesaurus ID	wds:Q3508598-828C3540-054E-4560-81ED-2A79F8E7A848
UMLS CUI	wds:Q3508598-3713147E-7A37-4610-9153-7A3029E86CCF wds:Q3508598-EB9C8AFF-9077-4F1F-9BDD-4DEB849641DA
MeSH descriptor ID	wds:Q3508598-473E0E2B-E94E-4C9F-A8D9-04FC94EEFF6A wds:Q3508598-D26CF368-D96D-4767-BC57-C83F4A786D53
on focus list of Wikimedia project	wds:Q3508598-FD63D7D8-A4B4-4F20-A54E-2599B470AA98
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536198
NCI Thesaurus ID	C125700
UMLS CUI	C0268342
MeSH descriptor ID	C536198
on focus list of Wikimedia project	WikiProject Medicine
is owl:sameAs of	brittle cornea syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q3508598 https://fr.wikipedia.org/wiki/Syndrome_d%27Ehlers-Danlos_type_cypho-scoliotique
is main subject of	Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Bilateral spontaneous corneal rupture in brittle cornea syndrome: a case report Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome Brittle cornea syndrome: recognition, molecular diagnosis and management ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24. Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome). [Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene] A novel technique to treat traumatic corneal perforation in a case of presumed brittle cornea syndrome Brittle cornea syndrome: A systemic review of disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years

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