About: septo-optic dysplasia

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

medical condition

Attributes	Values
rdf:type	Item
owl:sameAs	septo-optic dysplasia
description	medical condition (en) медичний стан (uk) malattia genetica rara (it)
exact match	wds:Q2756703-21C5914C-5B1A-4A60-AA49-130E93078F7C wds:Q2756703-448130C8-E677-43EE-904D-8BC7CEBB8B17 wds:Q2756703-CD24D717-242C-4B5A-9BCA-C20A166FC908
exact match	http://purl.obolibrary.org/obo/DOID_0060857 http://purl.obolibrary.org/obo/HP_0100842 http://identifiers.org/doid/DOID:0060857
health specialty	wds:Q2756703-89778DE8-C78E-4998-A8B6-379A0FF9F138
Mondo ID	wds:Q2756703-FFF5E9ED-CF24-4EB1-8616-38A2D682EA4A
DiseasesDB	wds:q2756703-3010A2FA-2D60-468A-B40C-C1813E0F7572
Disease Ontology ID	wds:Q2756703-884C220F-0E02-4025-86AA-BF41FD736B41
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0008428
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060857
health specialty	medical genetics
Mondo ID	MONDO_0008428
DiseasesDB	32732
Disease Ontology ID	DOID:0060857
rdfs:label	Displasia septo-óptica (es) Dysplazja przegrodowo-oczna (pl) Septo-optische Dysplasie (de) Septo-očna displazija (bs) Septooptická dysplázia (sk) dysplasie septo-optique (fr) septo-optic dysplasia (en) septooptisk dysplasi (nn) sindrome di de Morsier (it) خلل تنسج الحاجز البصري (ar) 狄莫西亞氏症候群 (zh)
skos:prefLabel	Displasia septo-óptica (es) Dysplazja przegrodowo-oczna (pl) Septo-optische Dysplasie (de) Septo-očna displazija (bs) Septooptická dysplázia (sk) dysplasie septo-optique (fr) septo-optic dysplasia (en) septooptisk dysplasi (nn) sindrome di de Morsier (it) خلل تنسج الحاجز البصري (ar) 狄莫西亞氏症候群 (zh)
name	Displasia septo-óptica (es) Dysplazja przegrodowo-oczna (pl) Septo-optische Dysplasie (de) Septo-očna displazija (bs) Septooptická dysplázia (sk) dysplasie septo-optique (fr) septo-optic dysplasia (en) septooptisk dysplasi (nn) sindrome di de Morsier (it) خلل تنسج الحاجز البصري (ar) 狄莫西亞氏症候群 (zh)
Freebase ID	wds:Q2756703-C5761CC4-39FF-4E95-9B42-24F1F79A63A8
Freebase ID	/m/01n88p
instance of	wds:Q2756703-421DD1BE-641A-47A2-9451-10FA8E0AC818 wds:Q2756703-B4ACBBED-EC58-491D-819B-20791025F11D wds:Q2756703-D7AA1701-D8A5-4B43-9289-8B4236E1E9F4
instance of	class of disease rare disease designated intractable/rare disease
subclass of	wds:Q2756703-045572c8-436c-7c65-387f-33768cdc27d2 wds:Q2756703-6C192FC0-DB9D-43CD-9972-0C232258CF7F wds:Q2756703-6C27E146-D395-4575-BE2A-6ACAB91DAF2E wds:Q2756703-F89D1AD0-1C80-4AE5-8ACC-F9184FB29DAD wds:Q2756703-e99481ec-4900-45bc-9f8f-0a244ac3b12d
subclass of	syndrome nervous system malformations optic nerve hypoplasia autosomal genetic disease congenital absence of septum pellucidum
KEGG ID	wds:Q2756703-EF79C679-04DC-4BB4-9266-EBB267913098
KEGG ID	http://www.kegg.jp/entry/H00544
KEGG ID	H00544
UniProt disease ID	wds:Q2756703-63fec969-4107-3350-33b1-4bfb614c582f
Orphanet ID	wds:Q2756703-930254D8-C4D4-449A-AEBA-A5AAAC5FB559
genetic association	wds:Q2756703-6E5D120A-BC1D-4DB8-9CCB-847113C3A536
PatientsLikeMe condition ID	wds:Q2756703-ec076c94-4751-8b6c-3c63-bd7195763dba
GARD rare disease ID	wds:Q2756703-D3CD8B6B-E7D5-4C25-87F6-83C3E78C8DC4
OMIM ID	wds:q2756703-E327F97D-BCDD-4B17-99F4-C8458ACEFFCA
Genetics Home Reference Conditions ID	wds:Q2756703-D7EE6384-9332-41B8-BE39-CA588A9407D0
UniProt disease ID	DI-02296
Orphanet ID	3157
genetic association	HESX1
PatientsLikeMe condition ID	septo-optic-dysplasia
GARD rare disease ID	7627
OMIM ID	182230
Genetics Home Reference Conditions ID	septo-optic-dysplasia
named after	wds:Q2756703-97a3c993-4896-741e-9099-2e40210727f0
named after	Georges de Morsier
Human Phenotype Ontology ID	wds:Q2756703-ED21F5C5-A986-4D36-850D-0DFE13AB3C63
ICD-9 ID	wds:q2756703-3EAF4CD6-46F0-49C6-8118-6F839C70EBC8
Human Phenotype Ontology ID	HP:0100842
ICD-9 ID	742.2
skos:altLabel	SOD (en) SOD (nn) De Morsier syndrome (en) DeMorsierov syndróm (sk) Displasia setto ottica (it)

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