About: Vici syndrome

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autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation, with material basis in mutation in the EPG5 gene on chromosome 18q12.3.

Attributes	Values
rdf:type	Item
owl:sameAs	Vici syndrome
description	Krankheit (de) Hastalık (tr) хвороба (uk) autosomal recessive disease characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation, with material basis in mutation in the EPG5 gene on chromosome 18q12.3. (en)
exact match	wds:Q7925271-1EDC711D-532F-4236-9EBB-01EB88ED25A7 wds:Q7925271-29CE7154-936F-4E53-804F-CC8FB4A3C1DD wds:Q7925271-6A7E10DB-49FC-4A73-A0D6-8D5AE16D188F
exact match	http://purl.obolibrary.org/obo/DOID_0060356 http://identifiers.org/doid/DOID:0060356 http://www.orpha.net/ORDO/Orphanet_1493
Mondo ID	wds:Q7925271-C6C0350A-C028-4A89-9D13-02FE24D4420B
Disease Ontology ID	wds:Q7925271-240054C6-7106-46C8-A319-C5759AB80169
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009452
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060356
Mondo ID	MONDO_0009452
Disease Ontology ID	DOID:0060356
rdfs:label	Vici sendromu (tr) Vici syndrome (en) sindromo de Vici (eo) syndrome de Vici (fr)
skos:prefLabel	Vici sendromu (tr) Vici syndrome (en) sindromo de Vici (eo) syndrome de Vici (fr)
name	Vici sendromu (tr) Vici syndrome (en) sindromo de Vici (eo) syndrome de Vici (fr)
instance of	wds:Q7925271-2E1D6474-2D2F-47F5-8B4F-CF3C00259A9F wds:Q7925271-45BF7647-B9CD-46E5-BC0D-DD698EBA8E6F wds:Q7925271-69106476-B5FD-4E03-B433-E25753D74011
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q7925271-2EBEAE8F-EE67-4F1A-AAF5-D90BD46DEB02 wds:Q7925271-39845FEC-14B8-4D67-84FD-59176F9D7816 wds:Q7925271-3E060D82-7EDA-40CD-A1C8-A10D2E4BC853 wds:Q7925271-67F2AE40-992F-4365-8C66-806F7E5F7BD0 wds:Q7925271-86B89774-43AE-402A-8A5E-AFA52E999E22 wds:Q7925271-C019B449-003A-492E-901E-3E340DC39F9D wds:Q7925271-C85D30FB-5034-4C3D-8B68-147CC3ECBBE1 wds:Q7925271-DD3E6F89-2E01-4CD0-AA08-2109E54D96F3
subclass of	syndrome genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature autosomal recessive disease leukoderma multiple congenital anomalies/dysmorphic syndrome without intellectual disability syndrome associated with dilated cardiomyopathy syndrome with combined immunodeficiency syndromic cataract
KEGG ID	wds:Q7925271-85105358-CD3D-4115-85CA-9A8A4C07C84F
KEGG ID	http://www.kegg.jp/entry/H02133
KEGG ID	H02133
UniProt disease ID	wds:Q7925271-43794463-45dd-7943-20a2-d67736c420ef
Orphanet ID	wds:Q7925271-D7D36A39-2A95-485A-8ACD-D208C10B7729
genetic association	wds:Q7925271-2C344B2B-7DD5-4DED-A072-B2E0A388A3AC
ICD-10-CM	wds:Q7925271-CF973B89-4138-4395-94BD-F09584E8E147
PatientsLikeMe condition ID	wds:Q7925271-19e2dea5-4880-6021-f8a1-ba3d185b04f2
GARD rare disease ID	wds:Q7925271-1838C6CF-8439-4594-AA22-97FA831FF296
OMIM ID	wds:Q7925271-86BDC163-8C7F-4CA0-8B62-357BBD8F2851
Genetics Home Reference Conditions ID	wds:Q7925271-9DBAE79A-7278-4090-82FE-98627E20772D
UniProt disease ID	DI-03646
Orphanet ID	1493
genetic association	EPG5
ICD-10-CM	Q87.8
PatientsLikeMe condition ID	vici-syndrome
GARD rare disease ID	448
OMIM ID	242840
Genetics Home Reference Conditions ID	vici-syndrome
skos:altLabel	Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (en) Absent corpus callosum-cataract-immunodeficiency syndrome (en) Corpus callosum agenesis-cataract-immunodeficiency syndrome (en) Absent corpus callosum cataract immunodeficiency (en) Dionisi Vici Sabetta Gambarara syndrome (en) Dionisi-Vici-Sabetta-Gambarara syndrome (en) VICI SYNDROME (en) VICI SYNDROME; VICIS (en) VICIS (en) immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum (en) absence de corps calleux cataracte immunodéficience (fr)
NCI Thesaurus ID	wds:Q7925271-09F69DB5-30B5-401A-AC8C-56009BCA20DD
UMLS CUI	wds:Q7925271-CA2FD6CD-362C-4CCF-9FE4-D669622F6874
MeSH descriptor ID	wds:Q7925271-78D9C400-A4EE-4802-8DE6-5F0255204056 wds:Q7925271-986C57C5-0C96-46ED-92E9-43868EF94F1D
on focus list of Wikimedia project	wds:Q7925271-7605BFEF-CC33-4C8B-B3BE-927D840B7CE0
Microsoft Academic ID	wds:Q7925271-E1D80673-669F-4285-AE36-546BDFDC7AE4
ICD-11 (foundation)	wds:Q7925271-8a2dae18-472f-2e17-ee9a-1c7f1f31480d
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535566
Microsoft Academic ID	https://makg.org/entity/2780418016
NCI Thesaurus ID	C138174
UMLS CUI	C1855772
MeSH descriptor ID	C535566
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2780418016
ICD-11 (foundation)	908973419
WikiProjectMed ID	wds:Q7925271-CE1616DD-1AF9-4D81-A0BC-46ACAD3EF7E0
WikiProjectMed ID	Vici syndrome
is about of	Vici syndrome

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