About: CHIME syndrome

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CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy

Attributes	Values
rdf:type	Item
owl:sameAs	CHIME syndrome
description	glikozilfosfatidilinositol sentezi bozukluğuna bağlı kalıtsal bir sendrom (tr) CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy (en)
exact match	wds:Q8075299-1B1CC14D-8975-4C92-886F-902B997408EE wds:Q8075299-65B1397D-4A59-4570-8AF0-E169791805F7 wds:Q8075299-99B6E9D9-2C04-47B6-BC12-53E750AD6BD8
exact match	http://purl.obolibrary.org/obo/DOID_0112152 http://identifiers.org/doid/DOID:0112152 http://www.orpha.net/ORDO/Orphanet_3474
Mondo ID	wds:Q8075299-CD7FCBB0-E553-4E1B-BE95-03E951F30D22
DiseasesDB	wds:q8075299-9A5039C1-4A3B-4E72-8EED-AC5285F8B6F6
Disease Ontology ID	wds:Q8075299-24BD0817-C11E-4446-818B-D9E8B5F762B1
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010221
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0112152
Mondo ID	MONDO_0010221
DiseasesDB	32624
Disease Ontology ID	DOID:0112152
rdfs:label	CHIME syndrome (en) CHIME-Syndrom (de) Sindromul Zunich-Kaye (ro) Zunich nöroektodermal sendromu (tr) syndrome CHIME (fr) σύνδρομο Ζούνιχ-Καγιέ (el)
skos:prefLabel	CHIME syndrome (en) CHIME-Syndrom (de) Sindromul Zunich-Kaye (ro) Zunich nöroektodermal sendromu (tr) syndrome CHIME (fr) σύνδρομο Ζούνιχ-Καγιέ (el)
name	CHIME syndrome (en) CHIME-Syndrom (de) Sindromul Zunich-Kaye (ro) Zunich nöroektodermal sendromu (tr) syndrome CHIME (fr) σύνδρομο Ζούνιχ-Καγιέ (el)
instance of	wds:Q8075299-0B9694D9-F0DE-4369-BFCD-C795F1A1FF1E wds:Q8075299-3402515F-415C-4B5F-ABF3-0585135C1953 wds:Q8075299-6E30A010-6CBB-46EA-BA6B-DC4F84DFCB09 wds:Q8075299-A337275B-01DB-4623-97AA-4A3FE1906BE4
instance of	class of disease rare disease head and neck disease developmental defect during embryogenesis
subclass of	wds:Q8075299-0BD22EBE-91B7-4919-A6E4-A6E763B92CEB wds:Q8075299-1649C764-E073-4D4E-A8F0-7CA4A5A31467 wds:Q8075299-66FE4E80-1001-43B1-9047-DC08EC33B6E3 wds:Q8075299-6941F976-7C22-4F2B-B569-D3A9755CC1ED wds:Q8075299-6E9E0829-D2E4-4878-A692-33147D858439 wds:Q8075299-7FDB5628-9420-416E-B9B0-BFD56F5CA09A wds:Q8075299-8574E12C-F85C-4E4D-8C05-62F919EFA523 wds:Q8075299-A65E8962-85BB-4AD0-9DC6-6721AC9711F6 wds:Q8075299-A73E007E-01C4-4793-BA0F-2460C88DA697 wds:Q8075299-DD457E49-14C1-4FAF-BDAD-DB95F41F5570 wds:Q8075299-E8DBC1A5-5D9C-483D-8B68-E4793D92F692 wds:Q8075299-ECEB594F-C493-4BD9-B503-407A653C708B
subclass of	syndrome syndromic developmental defect of the eye autosomal recessive disease syndromic dyslipidemia multiple congenital anomalies/dysmorphic syndrome-intellectual disability rare eye disease due to a differentiation anomaly non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature congenital disorder of glycosylation with cardiac malformation as a major feature congenital disorder of glycosylation with skin involvement inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation congenital disorder of glycosylation with epilepsy as a major feature congenital disorder of glycosylation with deafness as a major feature
KEGG ID	wds:Q8075299-C2B86714-9EA1-4335-A4CF-BFB7140C0024
KEGG ID	http://www.kegg.jp/entry/H01487
KEGG ID	H01487
UniProt disease ID	wds:Q8075299-de5714ae-48f2-c51f-1a2b-c151e3734fcc
Orphanet ID	wds:Q8075299-05231eca-40ff-0369-4b9f-b746e3904250
genetic association	wds:Q8075299-483FACA7-459D-40A1-B488-1E0F2217AF90
ICD-10-CM	wds:Q8075299-84FD3479-536B-44DA-9767-D1A790CD181B
GARD rare disease ID	wds:Q8075299-513E53BF-C38D-46C2-B601-8045DA66801D
OMIM ID	wds:q8075299-F6AFFC42-E96D-4904-B832-A7E6CDE624A3
UniProt disease ID	DI-03465
Orphanet ID	3474
genetic association	PIGL
ICD-10-CM	Q87.8
GARD rare disease ID	310
OMIM ID	280000
skos:altLabel	CHIME (en) COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME (en) Congenital disorder of glycosylation due to PIGL deficiency (en) Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome (en) Chime Syndrome (en) Neuroectodermal dysplasia, CHIME type (en) Neuroectodermal syndrome, Zunich type (en) PIGL-CDG (en) Zunich Neuroectodermal Syndrome (en) Zunich-Kaye syndrome (en) COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (en)
Amazon.com browse node	wds:Q8075299-1596CA75-B0CC-4EC4-A557-2BE720B9E1C8
UMLS CUI	wds:Q8075299-8686B303-64DA-4222-BEC8-8C8CC5784958
MeSH descriptor ID	wds:Q8075299-77FD4294-80A0-4A29-B524-4A4A7334CC36
ICD-11 (foundation)	wds:Q8075299-F50E3F1E-4FF4-4064-8F49-FB1E8F9183F4
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C536729
Amazon.com browse node	13663501

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