About: SHORT syndrome

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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
description	medical condition (en) медичний стан (uk) seltene angeborene Erkrankung (de)
exact match	wds:Q7390227-29218A3F-5100-4A23-BE12-8D2E18308F31 wds:Q7390227-4E7A2040-2C0A-43B5-8E68-3A08355B4228 wds:Q7390227-80C60D46-62C2-41B3-8FC1-71F8B3BCDB26
exact match	http://purl.obolibrary.org/obo/DOID_0111454 http://identifiers.org/doid/DOID:0111454 http://www.orpha.net/ORDO/Orphanet_3163
Mondo ID	wds:Q7390227-AD09F121-C3C8-4905-9A8A-0E7A5B18920C
DiseasesDB	wds:q7390227-F9128FAB-6B19-4397-B39D-974E578810E1
Disease Ontology ID	wds:Q7390227-C6D2430D-2A3A-4CA9-8E49-886D32C1F617
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0010026
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0111454
Mondo ID	MONDO_0010026
DiseasesDB	30068
Disease Ontology ID	DOID:0111454
rdfs:label	Hội chứng SHORT (vi) SHORT syndrome (en) SHORT-Syndrom (de) syndrome SHORT (fr)
skos:prefLabel	Hội chứng SHORT (vi) SHORT syndrome (en) SHORT-Syndrom (de) syndrome SHORT (fr)
name	Hội chứng SHORT (vi) SHORT syndrome (en) SHORT-Syndrom (de) syndrome SHORT (fr)
instance of	wds:Q7390227-5D3D85B8-3369-4F74-A656-5EA682B9CBAE wds:Q7390227-6FBEBDE6-C31B-478D-B4A3-163EE0C156BA wds:Q7390227-A5EBA6BC-82AB-4132-BDE4-8C73C35EE4BA
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q7390227-06CFDF86-4BC9-40EB-A6FE-828916D54052 wds:Q7390227-0F1D1F27-9852-4081-B40C-6592F9ECD2F6 wds:Q7390227-13EBE8EB-E332-43D5-9C50-B778F7CCC88E wds:Q7390227-39A464A0-E5D8-49FA-84E1-3BDBF4923847 wds:Q7390227-3C939B9A-F001-4233-AE0D-DA8DCF13D1F3 wds:Q7390227-46A88882-D988-40FC-A0A4-E6CF44752C7E wds:Q7390227-6C9B7DA5-DEFA-4245-A6C2-2114F348C15E wds:Q7390227-8E5AAE34-9761-4D41-8170-683167CB6F26 wds:Q7390227-A175BF48-AC53-42F8-84A6-92680D03A9FB wds:Q7390227-CA78A717-EBCD-4763-801A-4A889565C213 wds:Q7390227-D9A1F7B8-969A-402E-97AF-E742936437B7 wds:Q7390227-DD38ED77-2E44-45CE-BF5F-E43B20B018E8 wds:Q7390227-FFC3A302-A430-4F8B-BAC0-19F5429F7503 wds:Q7390227-a9374c1a-4b85-dd9a-3e5c-f723e665ffb4
subclass of	progeroid syndrome insulin resistance syndrome short stature syndromic developmental defect of the eye autosomal dominant disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability syndromic glaucoma multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome developmental anomaly of metabolic origin rare genetic diabetes mellitus genetic lipodystrophy malformation syndrome with short stature syndromic hyperopia
KEGG ID	wds:Q7390227-C8618ED1-982F-4B96-B795-A9F5AF5C3DF1
KEGG ID	http://www.kegg.jp/entry/H01370
KEGG ID	H01370
UniProt disease ID	wds:Q7390227-dc43706f-4e26-3863-ee21-de78cbc1f01a
Orphanet ID	wds:Q7390227-4dc5df31-45c2-8a43-06b8-8c4025bcd2f9
genetic association	wds:Q7390227-E7961EA9-06F1-4520-997A-C55D45148AAC
ICD-10-CM	wds:Q7390227-E5261D78-9422-4A96-9C0B-C3F843D648DE
GARD rare disease ID	wds:Q7390227-B4CD4489-33E0-4FA1-BBB8-6E506CDBA102
OMIM ID	wds:q7390227-7BF31AD9-9DF9-4AFC-8C5C-1593D7AB5C50
UniProt disease ID	DI-03868
Orphanet ID	3163
genetic association	PIK3R1
ICD-10-CM	Q87.1
GARD rare disease ID	7633
OMIM ID	269880
skos:altLabel	Lipodystrophy, Partial, With Rieger Anomaly and Short Stature (en) Aarskog-Ose-Pande syndrome (en) Lipodystrophy-Rieger anomaly-diabetes syndrome (en) Rieger anomaly-partial lipodystrophy syndrome (en) SHORT SYNDROME (en) Syndrome d'Aarskog-Ose-Pande (fr) Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay (en)
UMLS CUI	wds:Q7390227-98FAD0B3-0B49-4CFE-B9F7-2E05DDE51C30
MeSH descriptor ID	wds:Q7390227-01f0c597-4b7b-4f67-a7ea-111e37e574d2
Microsoft Academic ID	wds:Q7390227-FD2C882B-C985-4E06-B001-F1F87A420655
ICD-11 (foundation)	wds:Q7390227-f1110240-41cc-60e2-cce7-bdf92ff32eef
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C537327
Microsoft Academic ID	https://makg.org/entity/2775887007
UMLS CUI	C0878684
MeSH descriptor ID	C537327
Microsoft Academic ID	2775887007
ICD-11 (foundation)	1264512044
WikiProjectMed ID	wds:Q7390227-053C4491-8ACF-41E2-A0D6-1D2DD8293D40
WikiProjectMed ID	SHORT syndrome
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q7390227 SHORT syndrome

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