About: celiac disease-epilepsy-cerebral calcification syndrome

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About: celiac disease-epilepsy-cerebral calcification syndrome Goto Sponge NotDistinct Permalink

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Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications

Attributes	Values
rdf:type	Item
description	Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications (en)
exact match	wds:Q6137184-1D8CAB7A-EFD9-4B12-8C0A-EAB85642EC89
exact match	http://www.orpha.net/ORDO/Orphanet_1459
Mondo ID	wds:Q6137184-CD46862C-7A38-41F8-B457-FEF4C4786185
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009187
Mondo ID	MONDO_0009187
rdfs:label	Síndrome de Gobbi (es) celiac disease-epilepsy-cerebral calcification syndrome (en) syndrome de maladie coeliaque-calcifications cérébrales-épilepsie (fr)
skos:prefLabel	Síndrome de Gobbi (es) celiac disease-epilepsy-cerebral calcification syndrome (en) syndrome de maladie coeliaque-calcifications cérébrales-épilepsie (fr)
name	Síndrome de Gobbi (es) celiac disease-epilepsy-cerebral calcification syndrome (en) syndrome de maladie coeliaque-calcifications cérébrales-épilepsie (fr)
instance of	wds:Q6137184-066E1E7D-46F9-4B9E-AA09-89925E1E689B
instance of	class of disease
subclass of	wds:Q6137184-BDE30EAE-85E6-46DE-8693-6BBFBB452D28 wds:Q6137184-D9CE69E6-59E6-4393-A7A2-54D941DA73AB
subclass of	rare genetic epilepsy inflammatory and autoimmune disease with epilepsy
Google Knowledge Graph ID	wds:Q6137184-DE826006-A64F-4A1B-8204-2244083740C2
Google Knowledge Graph ID	http://g.co/kg/g/122rvt33
Google Knowledge Graph ID	/g/122rvt33
Orphanet ID	wds:Q6137184-4AC45415-D42F-46F5-ACDE-AB22389B753B
OMIM ID	wds:Q6137184-D2ACB672-BFEE-415E-BC42-72CA71954085
Orphanet ID	1459
OMIM ID	226810
skos:altLabel	CEC (en) celiac disease, epilepsy, and cerebral calcification syndrome (en) EPILEPSY WITH BILATERAL OCCIPITAL CALCIFICATIONS (en) Gobbi syndrome (en) Sindrome de Gobbi (es)
UMLS CUI	wds:Q6137184-8BF72676-5344-46A8-9DEA-92F245FE7390 wds:Q6137184-EB1E8D6A-852C-43F4-8F22-F21AF0F597C1
MeSH descriptor ID	wds:Q6137184-1A602E96-5468-4892-B8C8-320809606A43
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535496
UMLS CUI	C1856930 C4302597
MeSH descriptor ID	C535496
is owl:sameAs of	celiac disease-epilepsy-cerebral calcification syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q6137184 https://es.wikipedia.org/wiki/S%C3%ADndrome_de_Gobbi

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